Last updated May 2025- Hadassah Medical Center
1. Shalata A, Saada A, Mahroum M, et al. Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype. Hum Genomics. 2025;19(1). doi:10.1186/s40246-025-00723-y
2. Morelli AM, Saada A, Scholkmann F. Myelin: A possible proton capacitor for energy storage during sleep and energy supply during wakefulness. Prog Biophys Mol Biol. 2025;196:91-101. doi:10.1016/j.pbiomolbio.2025.03.001
3. Simchoni M, Wagnert-Avraham L, Derazne E, et al. Protein kinase C epsilon activation improves early survival in an acute porcine model of controlled hemorrhage. Sci Rep. 2025;15(1). doi:10.1038/s41598-025-92310-3
4. Ezer S, Ronin N, Yanovsky-Dagan S, et al. Transcriptome analysis of atad3-null zebrafish embryos elucidates possible disease mechanisms. Orphanet J Rare Dis . 2025;20(1). doi:10.1186/s13023-025-03709-0
5. Angel M, Kleinberg Y, Newaz T, et al. Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues. Orphanet J Rare Dis . 2025;20(1). doi:10.1186/s13023-025-03711-6
6. Hilander T, Awadhpersad R, Monteuuis G, et al. Supernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation. iScience. 2024;27(7). doi:10.1016/j.isci.2024.110185
7. Kakhlon O, Saada A, Escriba P V. Corrigendum: Editorial: Metabolic modulation of cellular function (Front. Cell Dev. Biol., (2024), 12, 1395922, 10.3389/fcell.2024.1395922). Front Cell Dev Biol. 2024;12. doi:10.3389/fcell.2024.1403128
8. Higazi AA-R, Maraga E, Baraghithy S, et al. Characterization of metabolic alterations in the lean metabolically unhealthy alpha defensin transgenic mice. iScience. 2024;27(2). doi:10.1016/j.isci.2024.108802
9. Arroum T, Pham L, Raisanen TE, et al. High Sucrose Diet-Induced Subunit I Tyrosine 304 Phosphorylation of Cytochrome c Oxidase Leads to Liver Mitochondrial Respiratory Dysfunction in the Cohen Diabetic Rat Model. Antioxidants. 2024;13(1). doi:10.3390/antiox13010019
10. Sweetat S, Shabat MB, Theotokis P, et al. Ovariectomy and High Fat-Sugar-Salt Diet Induced Alzheimer’s Disease/Vascular Dementia Features in Mice. Aging Dis. 2024;15(5):2284-2300. doi:10.14336/AD.2024.03110
11. Kakhlon O, Saada A, Escriba P V. Editorial: Metabolic modulation of cellular function. Front Cell Dev Biol. 2024;12. doi:10.3389/fcell.2024.1395922
12. Hazan R, Pines O, Saada A. Mitochondrial derived vesicles- Quo Vadis? FEBS J. 2024;291(21):4660-4669. doi:10.1111/febs.17103
13. Halstuk O, Dayan R, Silverstein S, et al. Low prevalence of SCA27B in adult-onset cerebellar ataxia cohort of Jewish ancestry. Park Relat Disord. 2024;126. doi:10.1016/j.parkreldis.2024.107067
14. McCormick EM, Keller K, Taylor JP, et al. Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum. Ann Neurol. 2023;94(4):696-712. doi:10.1002/ana.26716
15. Sweetat S, Nitzan K, Suissa N, et al. The Beneficial Effect of Mitochondrial Transfer Therapy in 5XFAD Mice via Liver–Serum–Brain Response. Cells. 2023;12(7). doi:10.3390/cells12071006
16. Goldman O, Adler LN, Hajaj E, et al. Early Infiltration of Innate Immune Cells to the Liver Depletes HNF4α and Promotes Extrahepatic Carcinogenesis. Cancer Discov. 2023;13(7):1616-1635. doi:10.1158/2159-8290.CD-22-1062
17. Hazan R, Lintzer D, Ziv T, et al. Mitochondrial-derived vesicles retain membrane potential and contain a functional ATP synthase. EMBO Rep. 2023;24(5). doi:10.15252/embr.202256114
18. Daas S, Abu Salah N, Anikster Y, et al. Addition of galactose-1-phosphate measurement enhances newborn screening for classical galactosemia. J Inherit Metab Dis. 2023;46(2):232-242. doi:10.1002/jimd.12580
19. Liber S, Staretz-Chacham O, Kishon M, et al. What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel? Mol Syndromol. 2022;13(1):45-49. doi:10.1159/000519099
20. Aharon-Hananel G, Romero-Afrima L, Saada A, Mantzur C, Raz I, Weksler-Zangen S. Cytochrome c Oxidase Activity as a Metabolic Regulator in Pancreatic Beta-Cells. Cells. 2022;11(6). doi:10.3390/cells11060929
21. Ezer S, Daana M, Park JH, et al. Infantile SOD1 deficiency syndrome caused by a homozygous SOD1 variant with absence of enzyme activity. Brain. 2022;145(3):872-878. doi:10.1093/brain/awab416
22. Mishra K, Péter M, Nardiello AM, et al. Multifaceted Analyses of Isolated Mitochondria Establish the Anticancer Drug 2-Hydroxyoleic Acid as an Inhibitor of Substrate Oxidation and an Activator of Complex IV-Dependent State 3 Respiration. Cells. 2022;11(3). doi:10.3390/cells11030578
23. Douiev L, Miller C, Keller G, Benyamini H, Abu‐libdeh B, Saada A. Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4‐1 Deficiency. Int J Mol Sci. 2022;23(8). doi:10.3390/ijms23084149
24. Zighan M, Arkadir D, Douiev L, Keller G, Miller C, Saada A. Variable effects of omaveloxolone (RTA408) on primary fibroblasts with mitochondrial defects. Front Mol Biosci. 2022;9. doi:10.3389/fmolb.2022.890653
25. Binyamin O, Frid K, Keller G, Saada A, Gabizon R. Comparing anti–aging hallmark activities of Metformin and Nano-PSO in a mouse model of genetic Creutzfeldt-Jakob Disease. Neurobiol Aging. 2022;110:77-87. doi:10.1016/j.neurobiolaging.2021.11.001
26. Douiev L, Miller C, Ruppo S, Benyamini H, Abu-Libdeh B, Saada A. Upregulation of cox4-2 via hif-1α in mitochondrial cox4-1 deficiency. Cells. 2021;10(2):1-16. doi:10.3390/cells10020452
27. Zehavi Y, Saada A, Jabaly-Habib H, et al. A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment. Metab Brain Dis. 2021;36(4):581-588. doi:10.1007/s11011-021-00671-1
28. Mor-Shaked H, Paz-Ebstein E, Basal A, et al. Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing. Brain Commun. 2021;3(3). doi:10.1093/braincomms/fcab197
29. Hershkovitz T, Kurolap A, Tal G, et al. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Mol Genet Metab Reports. 2021;26. doi:10.1016/j.ymgmr.2020.100699
30. Staretz-Chacham O, Amar S, Almashanu S, et al. Multiple acyl-coa dehydrogenase deficiency with variable presentation due to a homozygous mutation in a bedouin tribe. Genes (Basel). 2021;12(8). doi:10.3390/genes12081140
31. Nasca A, Di Meo I, Fellig Y, et al. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy. J Hum Genet. 2021;66(8):835-840. doi:10.1038/s10038-020-00897-4
32. Staretz-Chacham O, Daas S, Ulanovsky I, et al. The role of orotic acid measurement in routine newborn screening for urea cycle disorders. J Inherit Metab Dis. 2021;44(3):606-617. doi:10.1002/jimd.12331
33. Ferreira CR, Rahman S, Keller M, et al. An international classification of inherited metabolic disorders (ICIMD). J Inherit Metab Dis. 2021;44(1):164-177. doi:10.1002/jimd.12348
34. Erental A, Kalderon Z, Saada A, Smith Y, Engelberg-Kulka H. Erratum: Correction for Erental et al., “Apoptosis-Like Death, an Extreme SOS Response in Escherichia coli” (mBio (2014) 5 4 (e01426-e01414) PII: e03040-20). MBio. 2020;11(6). doi:10.1128/mBio.03040-20
35. Bennett MJ, Sheng F, Saada A. Biochemical assays of TCA cycle and β-oxidation metabolites. In: L.A. P, E.A. S, eds. Methods in Cell Biology. Vol 155. Academic Press Inc.; 2020:83-120. doi:10.1016/bs.mcb.2019.11.021
36. Mreisat A, Kanaani H, Saada A, Horowitz M. Heat acclimation mediated cardioprotection is controlled by mitochondrial metabolic remodeling involving HIF-1α. J Therm Biol. 2020;93. doi:10.1016/j.jtherbio.2020.102691
37. Douiev L, Sheffer R, Horvath G, Saada A. Bezafibrate improves mitochondrial fission and function in DNM1L-deficient patient cells. Cells. 2020;9(2). doi:10.3390/cells9020301
38. Tarailo-Graovac M, Zahir FR, Zivkovic I, et al. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Mol Genet Genomic Med. 2019;7(10). doi:10.1002/mgg3.961
39. Keller G, Binyamin O, Frid K, Saada A, Gabizon R. Mitochondrial dysfunction in preclinical genetic prion disease: A target for preventive treatment? Neurobiol Dis. 2019;124:57-66. doi:10.1016/j.nbd.2018.11.003
40. Zehavi Y, Mandel H, Eran A, et al. Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review. Metab Brain Dis. 2019;34(2):557-563. doi:10.1007/s11011-019-0384-x
41. Saada A. Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease. EMBO Mol Med. 2019;11(1). doi:10.15252/emmm.201809962
42. Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, et al. A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4. J Hum Genet. 2019;64(6):589-595. doi:10.1038/s10038-019-0592-6
43. Shalata A, Edery M, Habib C, et al. Primary Coenzyme Q deficiency Due to Novel ADCK3 Variants, Studies in Fibroblasts and Review of Literature. Neurochem Res. 2019;44(10):2372-2384. doi:10.1007/s11064-019-02786-5
44. Saada A. Insights into deoxyribonucleoside therapy for mitochondrial TK2 deficient mtDNA depletion. EBioMedicine. 2019;47:14-15. doi:10.1016/j.ebiom.2019.08.005
45. Nitzan K, Benhamron S, Valitsky M, et al. Mitochondrial Transfer Ameliorates Cognitive Deficits, Neuronal Loss, and Gliosis in Alzheimer’s Disease Mice. J Alzheimers Dis. 2019;72(2):587-604. doi:10.3233/JAD-190853
46. Douiev L, Saada A. The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage. Biochim Biophys Acta - Bioenerg. 2018;1859(9):893-900. doi:10.1016/j.bbabio.2018.06.004
47. Khateb S, Kowalewski B, Bedoni N, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Genet Med. 2018;20(9):1004-1012. doi:10.1038/gim.2017.227
48. Friederich MW, Timal S, Powell CA, et al. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018;9(1). doi:10.1038/s41467-018-06250-w
49. Shufaro Y, Saada A, Simeonov M, et al. The influence of in vivo exposure to nonylphenol ethoxylate 10 (NP-10) on the ovarian reserve in a mouse model. Reprod Toxicol. 2018;81:246-252. doi:10.1016/j.reprotox.2018.08.020
50. Bigelman E, Cohen L, Aharon-Hananel G, et al. Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease. PLoS One. 2018;13(6). doi:10.1371/journal.pone.0198196
51. Brzezinski A, Saada A, Miller H, Brzezinski-Sinai N, Ben-Meir A. Is the aging human ovary still ticking?: Expression of clock-genes in luteinized granulosa cells of young and older women. J Ovarian Res. 2018;11(1). doi:10.1186/s13048-018-0471-3
52. Israeli T, Riahi Y, Saada A, et al. Opposing effects of intracellular versus extracellular adenine nucleotides on autophagy: Implications for β-cell function. J Cell Sci. 2018;131(15). doi:10.1242/jcs.212969
53. Douiev L, Abu-Libdeh B, Saada A. Cytochrome c oxidase deficiency, oxidative stress, possible antioxidant therapy and link to nuclear DNA damage. Eur J Hum Genet. 2018;26(4):579-581. doi:10.1038/s41431-017-0047-5
54. Witters P, Saada A, Honzik T, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Genet Med. 2018;20(4):444-451. doi:10.1038/gim.2017.125
55. Cohen I, Staretz-Chacham O, Wormser O, et al. A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion. Am J Med Genet Part A. 2018;176(2):330-336. doi:10.1002/ajmg.a.38574
56. Shahrour MA, Staretz-Chacham O, Dayan D, et al. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet. 2017;91(5):690-696. doi:10.1111/cge.12855
57. Volpert G, Ben-Dor S, Tarcic O, et al. Oxidative stress elicited by modifying the ceramide acyl chain length reduces the rate of clathrin-mediated endocytosis. J Cell Sci. 2017;130(8):1486-1493. doi:10.1242/jcs.199968
58. Spiegel R, Soiferman D, Shaag A, Shalev S, Elpeleg O, Saada A. Novel homozygous missense mutation in spg20 gene results in troyer syndrome associated with mitochondrial cytochrome c oxidase deficiency. In: JIMD Reports. Vol 33. Springer; 2017:55-60. doi:10.1007/8904_2016_580
59. Douiev L, Soiferman D, Alban C, Saada A. The effects of ascorbate, N-acetylcysteine, and resveratrol on fibroblasts from patients with mitochondrial disorders. J Clin Med. 2017;6(1). doi:10.3390/jcm6010001
60. Yu-Wai-Man P, Soiferman D, Moore DG, Burté F, Saada A. Evaluating the therapeutic potential of idebenone and related quinone analogues in Leber hereditary optic neuropathy. Mitochondrion. 2017;36:36-42. doi:10.1016/j.mito.2017.01.004
61. Alban C, Fatale E, Joulani A, Ilin P, Saada A. The relationship between mitochondrial respiratory chain activities in muscle and metabolites in plasma and urine: A retrospective study. J Clin Med. 2017;6(3). doi:10.3390/jcm6030031
62. Abu-Libdeh B, Douiev L, Amro S, et al. Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. Eur J Hum Genet. 2017;25(10):1142-11146. doi:10.1038/ejhg.2017.112
63. Zeharia A, Friedman JR, Tobar A, et al. Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunit. Eur J Hum Genet. 2016;24(12):1778-1782. doi:10.1038/ejhg.2016.83
64. Thompson K, Majd H, Dallabona C, et al. Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. Am J Hum Genet. 2016;99(4):860-876. doi:10.1016/j.ajhg.2016.08.014
65. Kogot-Levin A, Saada A, Leibowitz G, et al. Upregulation of mitochondrial content in cytochrome c oxidase deficient fibroblasts. PLoS One. 2016;11(10). doi:10.1371/journal.pone.0165417
66. Kacso G, Ravasz D, Doczi J, et al. Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations. Biochem J. 2016;473(20):3463-3485. doi:10.1042/BCJ20160594
67. Imagawa E, Fattal-Valevski A, Eyal O, et al. Homozygous p.V116∗ mutation in C12orf65 results in Leigh syndrome. J Neurol Neurosurg Psychiatry. 2016;87(2):212-216. doi:10.1136/jnnp-2014-310084
68. Sheffer R, Douiev L, Edvardson S, et al. Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. Am J Med Genet Part A. 2016;170(6):1603-1607. doi:10.1002/ajmg.a.37624
69. Spiegel R, Saada A, Flannery PJ, et al. Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. J Med Genet. 2016;53(2):127-131. doi:10.1136/jmedgenet-2015-103361
70. Yoffe Y, David M, Kalaora R, et al. Cap-independent translation by DAP5 controls cell fate decisions in human embryonic stem cells. Genes Dev. 2016;30(17):1991-2004. doi:10.1101/gad.285239.116
71. Thompson K, Majd H, Dallabona C, et al. Erratum: Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (American Journal of Human Genetics (2016) 99(4) (860–876) (S0002929716303391) (10.1016/j.ajhg.2016.08.014)). Am J Hum Genet. 2016;99(6):1405. doi:10.1016/j.ajhg.2016.11.001
72. Edvardson S, Reisch AS. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1. In: Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis. Elsevier Inc.; 2016:265-272. doi:10.1016/B978-0-12-800877-5.00030-9
73. Kesner EE, Saada-Reich A, Lorberboum-Galski H. Characteristics of Mitochondrial Transformation into Human Cells. Sci Rep. 2016;6. doi:10.1038/srep26057
74. Stolovich-Rain M, Enk J, Vikesa J, et al. Weaning Triggers a Maturation Step of Pancreatic β Cells. Dev Cell. 2015;32(5):535-545. doi:10.1016/j.devcel.2015.01.002
75. Abdulhag UN, Soiferman D, Schueler-Furman O, et al. Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. Eur J Hum Genet. 2015;23(2):159-164. doi:10.1038/ejhg.2014.85
76. Haziza S, Magnani R, Lan D, et al. Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. PLoS Genet. 2015;11(8). doi:10.1371/journal.pgen.1005388
77. Stolovich-Rain M, Enk J, Vikesa J, et al. Erratum to Weaning Triggers a Maturation Step of Pancreatic β Cells [Developmental Cell 32 (2015) 535-545] DOI: 10.1016/j.devcel.2015.04.003. Dev Cell. 2015;33(2):238-239. doi:10.1016/j.devcel.2015.04.003
78. Soiferman D, Saada A. The Use of Fibroblasts from Patients with Inherited Mitochondrial Disorders for Pathomechanistic Studies and Evaluation of Therapies. In: The Functions, Disease-Related Dysfunctions, and Therapeutic Targeting of Neuronal Mitochondria. wiley; 2015:378-398. doi:10.1002/9781119017127.ch18
79. Edvardson S, Gerhard F, Jalas C, et al. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. J Med Genet. 2015;52(11):749-753. doi:10.1136/jmedgenet-2015-103239
80. Park W-J, Brenner O, Kogot-Levin A, et al. Development of pheochromocytoma in ceramide synthase 2 null mice. Endocr Relat Cancer. 2015;22(4):623-632. doi:10.1530/ERC-15-0058
81. Ben-Meir A, Yahalomi S, Moshe B, Shufaro Y, Reubinoff B, Saada A. Coenzyme Q-dependent mitochondrial respiratory chain activity in granulosa cells is reduced with aging. Fertil Steril. 2015;104(3):724-727. doi:10.1016/j.fertnstert.2015.05.023
82. Saada A. Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo - The use of primary fibroblasts. Int J Biochem Cell Biol. 2014;48(1):60-65. doi:10.1016/j.biocel.2013.12.010
83. Spiegel R, Saada A, Halvardson J, et al. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet. 2014;22(7):902-906. doi:10.1038/ejhg.2013.269
84. Soiferman D, Ayalon O, Weissman S, Saada A. The effect of small molecules on nuclear-encoded translation diseases. Biochimie. 2014;100(1):184-191. doi:10.1016/j.biochi.2013.08.024
85. Weksler-Zangen S, Aharon-Hananel G, Mantzur C, et al. IL-1β hampers glucose-stimulated insulin secretion in Cohen diabetic rat islets through mitochondrial cytochrome c oxidase inhibition by nitric oxide. Am J Physiol - Endocrinol Metab. 2014;306(6):E648-E657. doi:10.1152/ajpendo.00451.2013
86. Almagor Y, Eventov-Friedman S, Nir A, Sror A, Saada A. Measurement of troponin-T in dried blood spots and dried plasma spots: A pilot study. J Pediatr Biochem. 2014;4(3):153-157. doi:10.3233/JPB-140120
87. Kogot-Levin A, Saada A. Ceramide and the mitochondrial respiratory chain. Biochimie. 2014;100(1):88-94. doi:10.1016/j.biochi.2013.07.027
88. Erlich TH, Yagil Z, Kay G, et al. Mitochondrial STAT3 plays a major role in IgE-antigen-mediated mast cell exocytosis. J Allergy Clin Immunol. 2014;134(2):460-469.e10. doi:10.1016/j.jaci.2013.12.1075
89. Tornovsky-Babeay S, Dadon D, Ziv O, et al. Type 2 diabetes and congenital hyperinsulinism cause DNA double-strand breaks and p53 activity in β cells. Cell Metab. 2014;19(1):109-121. doi:10.1016/j.cmet.2013.11.007
90. Kopajtich R, Nicholls TJ, Rorbach J, et al. Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am J Hum Genet. 2014;95(6):708-720. doi:10.1016/j.ajhg.2014.10.017
91. Vainer GW, Saada A, Kania-Almog J, Amartely A, Bar-Tana J, Hertz R. PF-4708671 activates AMPK independently of p70S6K1 inhibition. PLoS One. 2014;9(9). doi:10.1371/journal.pone.0107364
92. Spiegel R, Mandel H, Saada A, et al. Delineation of C12orf65-related phenotypes: A genotype-phenotype relationship. Eur J Hum Genet. 2014;22(8):1019-1025. doi:10.1038/ejhg.2013.284
93. Haviv R, Zeharia A, Belaiche C, Haimi Cohen Y, Saada A. Elevated plasma citrulline: Look for dihydrolipoamide dehydrogenase deficiency. Eur J Pediatr. 2014;173(2):243-245. doi:10.1007/s00431-013-2153-x
94. Van Scherpenzeel M, Timal S, Rymen D, et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain. 2014;137(4):1030-1038. doi:10.1093/brain/awu019
95. Erental A, Kalderon Z, Saada A, Smith Y, Engelberg-Kulka H. Apoptosis-Like Death, An extreme SOS response in Escherichia Coli. MBio. 2014;5(4). doi:10.1128/mBio.01426-14
96. Stepensky P, Saada A, Cowan M, et al. The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy. Blood. 2013;121(25):5078-5087. doi:10.1182/blood-2012-12-475566
97. Chowers I, Kerrison JB, Reisch AS. Mitochondrial and peroxisomal disorders. In: Pediatric Retina: Second Edition. Wolters Kluwer Health; 2013. https://www.scopus.com/inward/record.uri?eid=2-s2.0-84973863169&partnerID=40&md5=e2791c38dd38e52fdd43606ff7bdb97c
98. Sarig O, Goldsher D, Nousbeck J, et al. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1. Am J Med Genet Part A. 2013;161(9):2204-2215. doi:10.1002/ajmg.a.36059
99. Negari SBH, Aouizerat T, Tenenbaum A, et al. Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatment. J Cyst Fibros. 2013;12(6):682-687. doi:10.1016/j.jcf.2013.04.006
100. Park W-J, Park J-W, Erez-Roman R, et al. Protection of a ceramide synthase 2 null mouse from drug-induced liver injury role of gap junction dysfunction and connexin 32 mislocalization. J Biol Chem. 2013;288(43):30904-30916. doi:10.1074/jbc.M112.448852
101. Saada A. Complex subunits and assembly genes: Complex i. In: Mitochondrial Disorders Caused by Nuclear Genes. Vol 9781461437222. Springer New York; 2013:185-202. doi:10.1007/978-1-4614-3722-2_12
102. Weksler-Zangen S, Jörns A, Tarsi-Chen L, et al. Dietary copper supplementation restores β-cell function of Cohen diabetic rats: A link between mitochondrial function and glucose-stimulated insulin secretion. Am J Physiol - Endocrinol Metab. 2013;304(10):E1023-E1034. doi:10.1152/ajpendo.00036.2013
103. Edvardson S, Porcelli V, Jalas C, et al. Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporter. J Med Genet. 2013;50(4):240-245. doi:10.1136/jmedgenet-2012-101485
104. Zigdon H, Kogot-Levin A, Park J-W, et al. Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain. J Biol Chem. 2013;288(7):4947-4956. doi:10.1074/jbc.M112.402719
105. Marcus D, Lichtenstein M, Saada A, Lorberboum-Galski H. Replacement of the C6oRF66 assembly factor (NDUFAF4) restores complex I activity in patient cells. Mol Med. 2013;19(1):124-134. doi:10.2119/molmed.2012.00343
106. Shwartz R, Sheffer RN, Mangisto G, Saada A. Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses. J Pediatr Biochem. 2012;2(3):163-167. doi:10.3233/JPB-2012-00054
107. Shufaro Y, Lebovich M, Aizenman E, et al. Human granulosa luteal cell oxidative phosphorylation function is not affected by age or ovarian response. Fertil Steril. 2012;98(1):166-172.e2. doi:10.1016/j.fertnstert.2012.03.051
108. Ohlenbusch A, Edvardson S, Skorpen J, et al. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet J Rare Dis. 2012;7(1). doi:10.1186/1750-1172-7-69
109. Kurian GA, Berenshtein E, Saada A, Chevion M. Rat cardiac mitochondrial sub-populations show distinct features of oxidative phosphorylation during ischemia, reperfusion and ischemic preconditioning. Cell Physiol Biochem. 2012;30(1):83-94. doi:10.1159/000339043
110. Assayag M, Saada A, Gerstenblith G, Canaana H, Shlomai R, Horowitz M. Mitochondrial performance in heat acclimation-A lesson from ischemia/reperfusion and calcium overload insults in the heart. Am J Physiol - Regul Integr Comp Physiol. 2012;303(8):R870-R881. doi:10.1152/ajpregu.00155.2012
111. Galmiche L, Serre V, Beinat M, et al. Toward genotype phenotype correlations in GFM1 mutations. Mitochondrion. 2012;12(2):242-247. doi:10.1016/j.mito.2011.09.007
112. Saada A, Edvardson S, Shaag A, et al. Combined OXPHOS complex i and IV defect, due to mutated complex i assembly factor C20ORF7. J Inherit Metab Dis. 2012;35(1):125-131. doi:10.1007/s10545-011-9348-y
113. Shwartz R, Sheffer RN, Mangisto G, Saada A. Quantitative measurement of urinary glycosaminoglycans using a modified DMB method facilitates the diagnosis and monitoring of mucopolysaccharidoses. J Pediatr Biochem. 2012;2(3):163-167. doi:10.1055/s-0036-1586409
114. Spiegel R, Pines O, Ta-Shma A, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet. 2012;90(3):518-523. doi:10.1016/j.ajhg.2012.01.009
115. Porat S, Weinberg-Corem N, Tornovsky-Babaey S, et al. Control of pancreatic β cell regeneration by glucose metabolism. Cell Metab. 2011;13(4):440-449. doi:10.1016/j.cmet.2011.02.012
116. Golubitzky A, Dan P, Weissman S, Link G, Wikstrom JD, Saada A. Screening for active small molecules in mitochondrial complex I deficient patient’s fibroblasts, reveals AICAR as the most beneficial compound. PLoS One. 2011;6(10). doi:10.1371/journal.pone.0026883
117. Spiegel R, Khayat M, Shalev SA, et al. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: Further delineation of a new syndrome. J Med Genet. 2011;48(3):177-182. doi:10.1136/jmg.2010.084608
118. Saada A. The use of individual patient’s fibroblasts in the search for personalized treatment of nuclear encoded OXPHOS diseases. Mol Genet Metab. 2011;104(1-2):39-47. doi:10.1016/j.ymgme.2011.07.016
119. Dan P, Edvardson S, Bielawski J, Hama H, Saada A. 2-hydroxylated sphingomyelin profiles in cells from patients with mutated fatty acid 2-hydroxylase. Lipids Health Dis. 2011;10. doi:10.1186/1476-511X-10-84
120. Smits P, Saada A, Wortmann SB, et al. Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. Eur J Hum Genet. 2011;19(4):394-399. doi:10.1038/ejhg.2010.214
121. Miller C, Wang L, Ostergaard E, Dan P, Saada A. The interplay between SUCLA2, SUCLG2, and mitochondrial DNA depletion. Biochim Biophys Acta - Mol Basis Dis. 2011;1812(5):625-629. doi:10.1016/j.bbadis.2011.01.013
122. Berger I, Ben-Neriah Z, Dor-Wolman T, et al. Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing. Mol Genet Metab. 2011;104(4):517-520. doi:10.1016/j.ymgme.2011.09.020
123. Leshinsky-Silver E, Lev D, Malinger G, et al. Leigh disease presenting in utero due to a novel missense mutation in the mitochondrial DNA-ND3. Mol Genet Metab. 2010;100(1):65-70. doi:10.1016/j.ymgme.2010.02.002
124. Edvardson S, Korman SH, Livne A, et al. L-arginine:glycine amidinotransferase (AGAT) deficiency: Clinical presentation and response to treatment in two patients with a novel mutation. Mol Genet Metab. 2010;101(2-3):228-232. doi:10.1016/j.ymgme.2010.06.021
125. Lakhal B, Braham R, Berguigua R, et al. Cytogenetic analyses of premature ovarian failure using karyotyping and interphase fluorescence in situ hybridization (FISH) in a group of 1000 patients. Clin Genet. 2010;78(2):181-185. doi:10.1111/j.1399-0004.2009.01359.x
126. Zeharia A, Shaag A, Pappo O, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene (DOI:10.1016/j.ajhg.2009.08.004). Am J Hum Genet. 2010;86(2):295. doi:10.1016/j.ajhg.2010.01.020
127. Loeb V, Yakunin E, Saada A, Sharon R. The transgenic overexpression of α-synuclein and not its related pathology associates with complex I inhibition. J Biol Chem. 2010;285(10):7334-7343. doi:10.1074/jbc.M109.061051
128. Berger I, Segal I, Shmueli D, Saada A. The effect of antiepileptic drugs on mitochondrial activity: A pilot study. J Child Neurol. 2010;25(5):541-545. doi:10.1177/0883073809352888
129. Yakunin E, Moser A, Loeb V, et al. α-synuclein abnormalities in mouse models of peroxisome biogenesis disorders. J Neurosci Res. 2010;88(4):866-876. doi:10.1002/jnr.22246
130. Levitas A, Muhammad E, Harel G, et al. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. Eur J Hum Genet. 2010;18(10):1160-1165. doi:10.1038/ejhg.2010.83
131. Spiegel R, Shaag A, Mandel H, et al. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet. 2009;17(9):1200-1203. doi:10.1038/ejhg.2009.24
132. Zeharia A, Shaag A, Pappo O, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene. Am J Hum Genet. 2009;85(3):401-407. doi:10.1016/j.ajhg.2009.08.004
133. Shteyer E, Saada A, Shaag A, et al. Exocrine Pancreatic Insufficiency, Dyserythropoeitic Anemia, and Calvarial Hyperostosis Are Caused by a Mutation in the COX4I2 Gene. Am J Hum Genet. 2009;84(3):412-417. doi:10.1016/j.ajhg.2009.02.006
134. Ruvinsky I, Katz M, Dreazen A, et al. Mice deficient in ribosomal protein S6 phosphorylation suffer from muscle weakness that reflects a growth defect and energy deficit. PLoS One. 2009;4(5). doi:10.1371/journal.pone.0005618
135. Saada A. Fishing in the (deoxyribonucleotide) pool. Biochem J. 2009;422(3):e3-e6. doi:10.1042/BJ20091194
136. Leshinsky-Silver E, Lebre A-S, Minai L, et al. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab. 2009;97(3):185-189. doi:10.1016/j.ymgme.2009.03.002
137. Jones CN, Miller C, Tenenbaum A, Spremulli LL, Saada A. Antibiotic effects on mitochondrial translation and in patients with mitochondrial translational defects. Mitochondrion. 2009;9(6):429-437. doi:10.1016/j.mito.2009.08.001
138. Saada A, Vogel RO, Hoefs SJ, et al. Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease. Am J Hum Genet. 2009;84(6):718-727. doi:10.1016/j.ajhg.2009.04.020
139. Belaiche C, Holt A, Saada A. Nonylphenol ethoxylate plastic additives inhibit mitochondrial respiratory chain complex I. Clin Chem. 2009;55(10):1883-1884. doi:10.1373/clinchem.2009.130054
140. Zeharia A, Shaag A, Houtkooper RH, et al. Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood (DOI:10.1016/j.ajhg.2008.09.002). Am J Hum Genet. 2009;84(1):95. doi:10.1016/j.ajhg.2008.12.003
141. Saada A, Edvardson S, Rapoport M, et al. C6ORF66 Is an Assembly Factor of Mitochondrial Complex I. Am J Hum Genet. 2008;82(1):32-38. doi:10.1016/j.ajhg.2007.08.003
142. Barel O, Shorer Z, Flusser H, et al. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ. Am J Hum Genet. 2008;82(5):1211-1216. doi:10.1016/j.ajhg.2008.03.020
143. Ghezzi D, Saada A, D’Adamo P, et al. FASTKD2 Nonsense Mutation in an Infantile Mitochondrial Encephalomyopathy Associated with Cytochrome C Oxidase Deficiency. Am J Hum Genet. 2008;83(3):415-423. doi:10.1016/j.ajhg.2008.08.009
144. Emdadul Haque M, Grasso D, Miller C, Spremulli LL, Saada A. The effect of mutated mitochondrial ribosomal proteins S16 and S22 on the assembly of the small and large ribosomal subunits in human mitochondria. Mitochondrion. 2008;8(3):254-261. doi:10.1016/j.mito.2008.04.004
145. Rapoport M, Saada A, Elpeleg O, Lorberboum-Galski H. TAT-mediated delivery of LAD restores pyruvate dehydrogenase complex activity in the mitochondria of patients with LAD deficiency. Mol Ther. 2008;16(4):691-697. doi:10.1038/mt.2008.4
146. Zeharia A, Shaag A, Houtkooper RH, et al. Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood. Am J Hum Genet. 2008;83(4):489-494. doi:10.1016/j.ajhg.2008.09.002
147. Saada A. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. Mol Genet Metab. 2008;95(3):169-173. doi:10.1016/j.ymgme.2008.07.007
148. Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol. 2008;63(3):405-408. doi:10.1002/ana.21332
149. Kohler JJ, Hosseini SH, Green E, et al. Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy. Cardiovasc Toxicol. 2008;8(2):57-69. doi:10.1007/s12012-008-9015-1
150. Barghuti F, Elian K, Gomori JM, et al. The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol Genet Metab. 2008;94(1):78-82. doi:10.1016/j.ymgme.2007.11.013
151. Edvardson S, Hama H, Shaag A, et al. Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia. Am J Hum Genet. 2008;83(5):643-648. doi:10.1016/j.ajhg.2008.10.010
152. Reisch AS, Elpeleg O. Biochemical Assays for Mitochondrial Activity: Assays of TCA Cycle Enzymes and PDHc. L.A. P, E.A. S, eds. Methods Cell Biol. 2007;80:199-222. doi:10.1016/S0091-679X(06)80010-5
153. Ciliberti N, Manfredini S, Angusti A, et al. Novel selective human mitochondrial kinase inhibitors: Design, synthesis and enzymatic activity. Bioorganic Med Chem. 2007;15(8):3065-3081. doi:10.1016/j.bmc.2007.01.049
154. Saada A, Shaag A, Arnon S, et al. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet. 2007;44(12):784-786. doi:10.1136/jmg.2007.053116
155. Spiegel R, Shaag A, Gutman A, et al. Severe infantile type of carnitine palmitoyltransferase II (CPT II) deficiency due to homozygous R503C mutation. J Inherit Metab Dis. 2007;30(2):266. doi:10.1007/s10545-007-0536-8
156. Edvardson S, Shaag A, Kolesnikova O, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am J Hum Genet. 2007;81(4):857-862. doi:10.1086/521227
157. Smeitink JAM, Elpeleg O, Antonicka H, et al. Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet. 2006;79(5):869-877. doi:10.1086/508434
158. Leshinsky-Silver E, Lev D, Tzofi-Berman Z, et al. Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. Biochem Biophys Res Commun. 2005;334(2):582-587. doi:10.1016/j.bbrc.2005.06.134
159. Bahat-Stroomza M, Gilgun-Sherki Y, Offen D, et al. A novel thiol antioxidant that crosses the blood brain barrier protects dopaminergic neurons in experimental models of Parkinson’s disease. Eur J Neurosci. 2005;21(3):637-646. doi:10.1111/j.1460-9568.2005.03889.x
160. Elpeleg O, Miller C, Hershkovitz E, et al. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet. 2005;76(6):1081-1086. doi:10.1086/430843
161. Lamont PJ, Thorburn DR, Fabian V, et al. Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive. Neuropediatrics. 2004;35(5):302-306. doi:10.1055/s-2004-821243
162. Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. In: Nucleosides, Nucleotides and Nucleic Acids. Vol 23. ; 2004:1205-1215. doi:10.1081/NCN-200027480
163. Miller C, Saada A, Shaul N, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol. 2004;56(5):734-738. doi:10.1002/ana.20282
164. Saada A, Bar-Meir M, Belaiche C, Miller C, Elpeleg O. Evaluation of enzymatic assays and compounds affecting ATP production in mitochondrial respiratory chain complex I deficiency. Anal Biochem. 2004;335(1):66-72. doi:10.1016/j.ab.2004.08.015
165. Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol. 2004;23(12):797-806. doi:10.1089/dna.2004.23.797
166. Saada A, Ben-Shalom E, Zyslin R, Miller C, Mandel H, Elpeleg O. Mitochondrial deoxyribonucleoside triphosphate pools in thymidine kinase 2 deficiency. Biochem Biophys Res Commun. 2003;310(3):963-966. doi:10.1016/j.bbrc.2003.09.104
167. Wang L, Saada A, Eriksson S. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy. J Biol Chem. 2003;278(9):6963-6968. doi:10.1074/jbc.M206143200
168. Saada A, Shaag A, Elpeleg O. mtDNA depletion myopathy: Elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol Genet Metab. 2003;79(1):1-5. doi:10.1016/S1096-7192(03)00063-5
169. Nevo Y, Soffer D, Kutai M, et al. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion. J Child Neurol. 2002;17(7):499-504. doi:10.1177/088307380201700705
170. Elpeleg O, Mandel H, Saada A. Depletion of the other genome-mitochondrial DNA depletion syndromes in humans. J Mol Med. 2002;80(7):389-396. doi:10.1007/s00109-002-0343-5
171. Lev D, Gilad E, Leshinsky-Silver E, et al. Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. J Inherit Metab Dis. 2002;25(5):371-377. doi:10.1023/A:1020195616081
172. Bar-Meir M, Elpeleg ON, Saada A. Effect of various agents on adenosine triphosphate synthesis in mitochondrial complex I deficiency. J Pediatr. 2001;139(6):868-870. doi:10.1067/mpd.2001.118885
173. Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001;29(3):342-344. doi:10.1038/ng751
174. Elpeleg ON, Hammerman C, Saada A, Shaag A, Golzand E. Antenatal presentation of carnitine palmitoyltransferase II deficiency. Am J Med Genet. 2001;102(2):183-187. doi:10.1002/ajmg.1457
175. Mandel H, Szargel R, Labay V, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001;29(3):337-341. doi:10.1038/ng746
176. Mandel H, Szargel R, Labay V, et al. Erratum: The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA (Journal of Vascular Technology (2001) 29 (337-341)). Nat Genet. 2001;29(4):491. doi:10.1038/ng1201-491a
177. Saada A, Aptowitzer I, Link G, Elpeleg ON. ATP synthesis in lipoamide dehydrogenase deficiency. Biochem Biophys Res Commun. 2000;269(2):382-386. doi:10.1006/bbrc.2000.2310
178. Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg ON. Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain. Biochem Biophys Res Commun. 1999;262(1):163-166. doi:10.1006/bbrc.1999.1133
179. Shaag A, Saada A, Berger I, et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet. 1999;82(2):177-182. doi:10.1002/(SICI)1096-8628(19990115)82:2<177::AID-AJMG15>3.0.CO;2-9
180. Be’eri H, Reichert F, Saada A, Rotshenker S. The cytokine network of Wallerian degeneration: IL-10 and GM-CSF. Eur J Neurosci. 1998;10(8):2707-2713. doi:10.1046/j.1460-9568.1998.00277.x
181. Link G, Saada A, Pinson A, Konijn AM, Hershko C. Mitochondrial respiratory enzymes are a major target of iron toxicity in rat heart cells. J Lab Clin Med. 1998;131(5):466-474. doi:10.1016/S0022-2143(98)90148-2
182. Cohen O, Steiner I, Argov Z, et al. Mitochondrial myopathy with atypical subacute presentation [6]. J Neurol Neurosurg Psychiatry. 1998;64(3):410-411. doi:10.1136/jnnp.64.3.410
183. Shaag A, Saada A, Steinberg A, Navon P, Elpeleg ON. Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu(UUR)) gene (A3243T). Biochem Biophys Res Commun. 1997;233(3):637-639. doi:10.1006/bbrc.1997.6496
184. Elpeleg ON, Shaag A, Glustein JZ, Anikster Y, Joseph A, Saada A. Lipoamide dehydrogenase deficiency in ashkenazi jews: An insertion mutation in the mitochondrial leader sequence. Hum Mutat. 1997;10(3):256-257. doi:10.1002/(SICI)1098-1004(1997)10:3<256::AID-HUMU16>3.0.CO;2-Z
185. Elpeleg ON, Saada AB, Shaag A, et al. Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria. Muscle and Nerve. 1997;20(2):238-240. doi:10.1002/(SICI)1097-4598(199702)20:2<238::AID-MUS18>3.0.CO;2-Z
186. Aptowitzer I, Saada A, Faber J, Kleid D, Elpeleg ON. Liver disease in the Ashkenazi-Jewish lipoamide dehydrogenase deficiency. J Pediatr Gastroenterol Nutr. 1997;24(5):599-601. doi:10.1097/00005176-199705000-00019
187. Saada A, Reichert F, Rotshenker S. Granulocyte macrophage colony stimulating factor produced in lesioned peripheral nerves induces the up-regulation of cell surface expression of MAC-2 by macrophages and Schwann cells. J Cell Biol. 1996;133(1):159-167. doi:10.1083/jcb.133.1.159
188. Berger I, Elpeleg ON, Saada A. Lipoamide dehydrogenase activity in lymphocytes. Clin Chim Acta. 1996;256(2):197-201. doi:10.1016/S0009-8981(96)06420-0
189. Saada A, Dunaevsky-Hutt A, Aamar A, Reichert F, Rotshenker S. Fibroblasts that reside in mouse and frog injured peripheral nerves produce apolipoproteins. J Neurochem. 1995;64(5):1996-2003. https://www.scopus.com/inward/record.uri?eid=2-s2.0-0028930810&partnerID=40&md5=a74da5c92d85d47f060d2558a1748572
190. Reichert F, Saada A, Rotshenker S. Peripheral nerve injury induces Schwann cells to express two macrophage phenotypes: Phagocytosis and the galactose-specific lectin MAC-2. J Neurosci. 1994;14(5 II):3231-3245. doi:10.1523/jneurosci.14-05-03231.1994
191. Aamar S, Saada A, Rotshenker S. Lesion‐Induced Changes in the Production of Newly Synthesized and Secreted Apo‐E and Other Molecules Are Independent of the Concomitant Recruitment of Blood‐Borne Macrophages into Injured Peripheral Nerves. J Neurochem. 1992;59(4):1287-1292. doi:10.1111/j.1471-4159.1992.tb08439.x
192. Saada A-B, Terespolski Y, Adoni A, Kahane I. Adherence of Ureaplasma urealyticum to human erythrocytes. Infect Immun. 1991;59(1):467-469. https://www.scopus.com/inward/record.uri?eid=2-s2.0-0026011202&partnerID=40&md5=9a285a2d04e563fed5df8aaad3393122
193. Kahane I, Reisch-Saada A, Almagor M, Abeliuck P, Yatziv S. Glycosidase Activities of Mycoplasmas. Zentralblatt fur Bakteriol. 1990;273(3):300-305. doi:10.1016/S0934-8840(11)80432-9
194. Saada A-B, Kahane I. Purification and characterization of urease from Ureaplasma urealyticum. Zentralblatt fur Bakteriol Mikrobiol und Hyg - Abt 1 Orig A. 1988;269(2):160-167. doi:10.1016/S0176-6724(88)80092-0
195. Saada A-B, Deutsch V, Kahane I. Interaction of a monoclonal antibody with the urease of Ureaplasma urealyticum. FEMS Microbiol Lett. 1988;55(2):187-190. doi:10.1111/j.1574-6968.1988.tb13931.x
196. Kahane I, Granek J, Reisch-Saada A. The adhesins of Mycoplasma gallisepticum and M. Pneumoniae. Ann l’Institut Pasteur Microbiol. 1984;135(1):25-32. doi:10.1016/S0769-2609(84)80055-1