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Hadassah Medical Center: Saada Reisch Ann

Last updated June 2021 - Hadassah Medical Center

List of Publications

(1) Staretz-Chacham O, Daas S, Ulanovsky I, Blau A, Rostami N, Saraf-Levy T, 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.

(2) Zehavi Y, Saada A, Jabaly-Habib H, Dessau M, Shaag A, Elpeleg O, 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.

(3) Hershkovitz T, Kurolap A, Tal G, Paperna T, Mory A, Staples J, et al. A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes. Mol Genet Metab Rep 2021;26.

(4) 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).

(5) Nasca A, Di Meo I, Fellig Y, Saada A, Elpeleg O, Ghezzi D, et al. A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy. J Hum Genet 2021.

(6) 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).

(7) 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.

(8) Douiev L, Sheffer R, Horvath G, Saada A. Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. Cells 2020;9(2).

(9) Bennett MJ, Sheng F, Saada A. Biochemical assays of TCA cycle and β-oxidation metabolites. Methods Cell Biol 2020;155:83-120.

(10) Tarailo-Graovac M, Zahir FR, Zivkovic I, Moksa M, Selby K, Sinha S, et al. De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Mol Genetics Genom Med 2019;7(10).

(11) Shalata A, Edery M, Habib C, Genizi J, Mahroum M, Khalaily L, 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.

(12) Saada A. Insights into deoxyribonucleoside therapy for mitochondrial TK2 deficient mtDNA depletion. EBioMedicine 2019;47:14-15.

(13) Hershkovitz T, Kurolap A, Gonzaga-Jauregui C, Paperna T, Mory A, Wolf SE, 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.

(14) Zehavi Y, Mandel H, Eran A, Ravid S, Abu Rashid M, Jansen EEW, 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.

(15) 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.

(16) Saada A. Sea squirt alternative oxidase bypasses fatal mitochondrial heart disease. EMBO Mol Med 2019;11(1).

(17) Nitzan K, Benhamron S, Valitsky M, Kesner EE, Lichtenstein M, Ben-Zvi A, et al. Mitochondrial Transfer Ameliorates Cognitive Deficits, Neuronal Loss, and Gliosis in Alzheimer's Disease Mice. J Alzheimers Dis 2019;72(2):587-604.

(18) Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, et al. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun 2018;9(1).

(19) 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).

(20) Shufaro Y, Saada A, Simeonov M, Tsuberi B-, Alban C, Kogot-Levin A, 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.

(21) Douiev L, Saada A. The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage. Biochim Biophys Acta Bioenerg 2018;1859(9):893-900.

(22) Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, et al. A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans. Gen Med 2018;20(9):1004-1012.

(23) Israeli T, Riahi Y, Saada A, Yefet D, Cerasi E, Tirosh B, et al. Opposing effects of intracellular versus extracellular adenine nucleotides on autophagy: Implications for β-cell function. J Cell Sci 2018;131(15).

(24) Bigelman E, Cohen L, Aharon-Hananel G, Levy R, Rozenbaum Z, Saada A, et al. Pathological presentation of cardiac mitochondria in a rat model for chronic kidney disease. PLoS ONE 2018;13(6).

(25) 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.

(26) Witters P, Saada A, Honzik T, Tesarova M, Kleinle S, Horvath R, et al. Revisiting mitochondrial diagnostic criteria in the new era of genomics. Gen Med 2018;20(4):444-451.

(27) Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, 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.

(28) Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, 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.

(29) 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.

(30) Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, et al. Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations. Clin Genet 2017;91(5):690-696.

(31) Volpert G, Ben-Dor S, Tarcic O, Duan J, Saada A, Merrill AH, 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.

(32) 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. JIMD Reports 2017;33:55-60.

(33) Zeharia A, Friedman JR, Tobar A, Saada A, Konen O, Fellig Y, 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.

(34) Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, 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.

(35) Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, 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.

(36) Kogot-Levin A, Saada A, Leibowitz G, Soiferman D, Douiev L, Raz I, et al. Upregulation of mitochondrial content in cytochrome c oxidase deficient fibroblasts. PLoS ONE 2016;11(10).

(37) Kacso G, Ravasz D, Doczi J, Németh B, Madgar O, Saada A, et al. Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations. Biochem J 2016;473(20).

(38) Yoffe Y, David M, Kalaora R, Povodovski L, Friedlander G, Feldmesser E, et al. Cap-independent translation by DAP5 controls cell fate decisions in human embryonic stem cells. Genes Dev 2016;30(17):1991-2004.

(39) Sheffer R, Douiev L, Edvardson S, Shaag A, Tamimi K, Soiferman D, 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.

(40) Kesner EE, Saada-Reich A, Lorberboum-Galski H. Characteristics of Mitochondrial Transformation into Human Cells. Sci Rep 2016;6.

(41) Imagawa E, Fattal-Valevski A, Eyal O, Miyatake S, Saada A, Nakashima M, et al. Homozygous p.V116∗ mutation in C12orf65 results in Leigh syndrome. J Neurol Neurosurg Psychiatry 2016;87(2):212-216.

(42) Edvardson S, Reisch AS. Complex II Deficiency: Leukoencephalopathy Due to Mutated SDHAF1. Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis; 2016. p. 265-272.

(43) Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, 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.

(44) Soiferman D, Saada A. The Use of Fibroblasts from Patients with Inherited Mitochondrial Disorders for Pathomechanistic Studies and Evaluation of Therapies. The Functions, Disease-Related Dysfunctions, and Therapeutic Targeting of Neuronal Mitochondria; 2015. p. 378-398.

(45) 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.

(46) Edvardson S, Gerhard F, Jalas C, Lachmann J, Golan D, Saada A, et al. Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients. J Med Genet 2015;52(11):749-753.

(47) Park W-, Brenner O, Kogot-Levin A, Saada A, Merrill AH, Pewzner-Jung Y, et al. Development of pheochromocytoma in ceramide synthase 2 null mice. Endocr -Relat Cancer 2015;22(4):623-632.

(48) Stolovich-Rain M, Enk J, Vikesa J, Nielsen FC, Saada A, Glaser B, 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.

(49) Stolovich-Rain M, Enk J, Vikesa J, Nielsen F, Saada A, Glaser B, et al. Weaning Triggers a Maturation Step of Pancreatic β Cells. Dev Cell 2015;32(5):535-545.

(50) Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg 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.

(51) Haziza S, Magnani R, Lan D, Keinan O, Saada A, Hershkovitz E, et al. Calmodulin Methyltransferase Is Required for Growth, Muscle Strength, Somatosensory Development and Brain Function. PLoS Genet 2015;11(8).

(52) 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).

(53) 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).

(54) Weksler-Zangen S, Aharon-Hananel G, Mantzur C, Aouizerat T, Gurgul-Convey E, Raz I, 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.

(55) 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.

(56) Tornovsky-Babeay S, Dadon D, Ziv O, Tzipilevich E, Kadosh T, Schyr-Ben Haroush R, 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.

(57) Saada A. Mitochondria: Mitochondrial OXPHOS (dys) function ex vivo - The use of primary fibroblasts. Int J Biochem Cell Biol 2014;48(1):60-65.

(58) Kogot-Levin A, Saada A. Ceramide and the mitochondrial respiratory chain. Biochimie 2014;100(1):88-94.

(59) Soiferman D, Ayalon O, Weissman S, Saada A. The effect of small molecules on nuclear-encoded translation diseases. Biochimie 2014;100(1):184-191.

(60) 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.

(61) Erlich TH, Yagil Z, Kay G, Peretz A, Migalovich-Sheikhet H, Tshori S, 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.

(62) Spiegel R, Saada A, Halvardson J, Soiferman D, Shaag A, Edvardson S, et al. Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy. Eur J Hum Genet 2014;22(7):902-906.

(63) Spiegel R, Mandel H, Saada A, Lerer I, Burger A, Shaag A, et al. Delineation of C12orf65-related phenotypes: A genotype-phenotype relationship. Eur J Hum Genet 2014;22(8):1019-1025.

(64) Van Scherpenzeel M, Timal S, Rymen D, Hoischen A, Wuhrer M, Hipgrave-Ederveen A, et al. Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiency. Brain 2014;137(4):1030-1038.

(65) Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, 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.

(66) Negari SBH, Aouizerat T, Tenenbaum A, Cohen-Cymberknoh M, Shoseyov D, Kerem E, et al. Mitochondrial OXPHOS function is unaffected by chronic azithromycin treatment. J Cyst Fibrosis 2013;12(6):682-687.

(67) Park W-, Park J-, Erez-Roman R, Kogot-Levin A, Bame JR, Tirosh B, 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.

(68) Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, 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.

(69) Chowers I, Kerrison JB, Reisch AS. Mitochondrial and peroxisomal disorders. Pediatric Retina: Second Edition; 2013.

(70) Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, 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.

(71) 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.

(72) Weksler-Zangen S, Jörns A, Tarsi-Chen L, Vernea F, Aharon-Hananel G, Saada A, 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.

(73) Saada A. Complex subunits and assembly genes: Complex i. Mitochondrial Disorders Caused by Nuclear Genes; 2013. p. 185-202.

(74) Zigdon H, Kogot-Levin A, Park J-, Goldschmidt R, Kelly S, Merrill Jr. AH, 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.

(75) Edvardson S, Porcelli V, Jalas C, Soiferman D, Kellner Y, Shaag A, 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.

(76) 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.

(77) 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.

(78) Ohlenbusch A, Edvardson S, Skorpen J, Bjornstad A, Saada A, Elpeleg O, et al. Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency. Orphanet J Rare Dis 2012;7(1).

(79) Spiegel R, Pines O, Ta-Shma A, Burak E, Shaag A, Halvardson J, et al. Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. Am J Hum Genet 2012;90(3):518-523.

(80) Galmiche L, Serre V, Beinat M, Zossou R, Assouline Z, Lebre A-, et al. Toward genotype phenotype correlations in GFM1 mutations. Mitochondrion 2012;12(2):242-247.

(81) 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.

(82) 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.

(83) Shufaro Y, Lebovich M, Aizenman E, Miller C, Simon A, Laufer N, 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.

(84) Saada A, Edvardson S, Shaag A, Chung WK, Segel R, Miller C, 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.

(85) Berger I, Ben-Neriah Z, Dor-Wolman T, Shaag A, Saada A, Zenvirt S, 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.

(86) 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).

(87) 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.

(88) 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.

(89) 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.

(90) Porat S, Weinberg-Corem N, Tornovsky-Babaey S, Schyr-Ben-Haroush R, Hija A, Stolovich-Rain M, et al. Control of pancreatic β cell regeneration by glucose metabolism. Cell Metab 2011;13(4):440-449.

(91) Smits P, Saada A, Wortmann SB, Heister AJ, Brink M, Pfundt R, 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.

(92) Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, 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.

(93) Edvardson S, Korman SH, Livne A, Shaag A, Saada A, Nalbandian R, 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.

(94) Levitas A, Muhammad E, Harel G, Saada A, Caspi VC, Manor E, 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.

(95) Lakhal B, Braham R, Berguigua R, Bouali N, Zaouali M, Chaieb M, 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.

(96) 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.

(97) Leshinsky-Silver E, Lev D, Malinger G, Shapira D, Cohen S, Lerman-Sagie T, 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.

(98) 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.

(99) Yakunin E, Moser A, Loeb V, Saada A, Faust P, Crane DI, et al. α-synuclein abnormalities in mouse models of peroxisome biogenesis disorders. J Neurosci Res 2010;88(4):866-876.

(100) Zeharia A, Shaag A, Pappo O, Mager-Heckel A-, Saada A, Beinat M, 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.

(101) 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.

(102) Belaiche C, Holt A, Saada A. Nonylphenol ethoxylate plastic additives inhibit mitochondrial respiratory chain complex I. Clin Chem 2009;55(10):1883-1884.

(103) Saada A. Fishing in the (deoxyribonucleotide) pool. Biochem J 2009;422(3):e3-e6.

(104) Zeharia A, Shaag A, Pappo O, Mager-Heckel A-, Saada A, Beinat M, et al. Acute Infantile Liver Failure Due to Mutations in the TRMU Gene. Am J Hum Genet 2009;85(3):401-407.

(105) Leshinsky-Silver E, Lebre A-, Minai L, Saada A, Steffann J, Cohen S, et al. NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. Mol Genet Metab 2009;97(3):185-189.

(106) Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, 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.

(107) Ruvinsky I, Katz M, Dreazen A, Gielchinsky Y, Saada A, Freedman N, 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).

(108) Shteyer E, Saada A, Shaag A, Al-Hijawi FA, Kidess R, Revel-Vilk S, 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.

(109) Spiegel R, Shaag A, Mandel H, Reich D, Penyakov M, Hujeirat Y, et al. Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews. Eur J Hum Genet 2009;17(9):1200-1203.

(110) Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, 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.

(111) Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, 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.

(112) Saada A. Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency. Mol Genet Metab 2008;95(3):169-173.

(113) Zeharia A, Shaag A, Houtkooper RH, Hindi T, de Lonlay P, Erez G, et al. Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood. Am J Hum Genet 2008;83(4):489-494.

(114) Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, 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.

(115) 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.

(116) Kohler JJ, Hosseini SH, Green E, Hoying-Brandt A, Cucoranu I, Haase CP, et al. Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy. Cardiovasc Toxicol 2008;8(2):57-69.

(117) Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, et al. Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ. Am J Hum Genet 2008;82(5):1211-1216.

(118) Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, et al. The unique neuroradiology of complex I deficiency due to NDUFA12L defect. Mol Genet Metab 2008;94(1):78-82.

(119) 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.

(120) Saada A, Edvardson S, Rapoport M, Shaag A, Amry K, Miller C, et al. C6ORF66 Is an Assembly Factor of Mitochondrial Complex I. Am J Hum Genet 2008;82(1):32-38.

(121) 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.

(122) Saada A, Shaag A, Arnon S, Dolfin T, Miller C, Fuchs-Telem D, et al. Antenatal mitochondrial disease caused by mitochondrial ribosomal protein (MRPS22) mutation. J Med Genet 2007;44(12):784-786.

(123) Reisch AS, Elpeleg O. Biochemical Assays for Mitochondrial Activity: Assays of TCA Cycle Enzymes and PDHc. Methods Cell Biol 2007;80:199-222.

(124) Ciliberti N, Manfredini S, Angusti A, Durini E, Solaroli N, Vertuani S, et al. Novel selective human mitochondrial kinase inhibitors: Design, synthesis and enzymatic activity. Bioorg Med Chem 2007;15(8):3065-3081.

(125) Spiegel R, Shaag A, Gutman A, Korman SH, Saada A, Elpeleg O, 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.

(126) Edvardson S, Shaag A, Kolesnikova O, Gomori JM, Tarassov I, Einbinder T, 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.

(127) Smeitink JAM, Elpeleg O, Antonicka H, Diepstra H, Saada A, Smits P, 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.

(128) Leshinsky-Silver E, Lev D, Tzofi-Berman Z, Cohen S, Saada A, Yanoov-Sharav M, 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.

(129) Bahat-Stroomza M, Gilgun-Sherki Y, Offen D, Panet H, Saada A, Krool-Galron N, 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.

(130) Elpeleg O, Miller C, Hershkovitz E, Bitner-Glindzicz M, Bondi-Rubinstein G, Rahman S, 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.

(131) Saada-Reisch A. Deoxyribonucleoside kinases in mitochondrial DNA depletion. Nucleosides Nucleotides Nucleic Acids 2004;23(8-9):1205-1215.

(132) Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol 2004;23(12):797-806.

(133) 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.

(134) Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 2004;56(5):734-738.

(135) Lamont PJ, Thorburn DR, Fabian V, Vajsar J, Hawkins C, Saada A, 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.

(136) 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.

(137) 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.

(138) 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.

(139) Lev D, Gilad E, Leshinsky-Silver E, Houri S, Levine A, Saada A, 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.

(140) 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.

(141) Nevo Y, Soffer D, Kutai M, Zelnik N, Saada A, Jossiphov J, et al. Clinical characteristics and muscle pathology in myopathic mitochondrial DNA depletion. J Child Neurol 2002;17(7):499-504.

(142) 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.

(143) Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet 2001;29(3):337-341.

(144) 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.

(145) 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.

(146) Mandel H, Szargel R, Labay V, Elpeleg O, Saada A, Shalata A, 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.

(147) Saada A, Aptowitzer I, Link G, Elpeleg ON. ATP synthesis in lipoamide dehydrogenase deficiency. Biochem Biophys Res Commun 2000;269(2):382-386.

(148) 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.

(149) Shaag A, Saada A, Berger I, Mandel H, Joseph A, Feigenbaum A, et al. Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews. Am J Med Genet 1999;82(2):177-182.

(150) 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.

(151) 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.

(152) Cohen O, Steiner I, Argov Z, Ashkenazi A, Diment J, Saada A, et al. Mitochondrial myopathy with atypical subacute presentation [6]. J Neurol Neurosurg Psychiatry 1998;64(3):410-411.

(153) 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.

(154) 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.

(155) 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.

(156) Elpeleg ON, Saada AB, Shaag A, Glustein JZ, Ruitenbeek W, Tein I, et al. Lipoamide dehydrogenase deficiency: A new cause for recurrent myoglobinuria. Muscle Nerve 1997;20(2):238-240.

(157) Berger I, Elpeleg ON, Saada A. Lipoamide dehydrogenase activity in lymphocytes. Clin Chim Acta 1996;256(2):197-201.

(158) 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.

(159) 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.

(160) 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.

(161) 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.

(162) Saada A-, Terespolski Y, Adoni A, Kahane I. Adherence of Ureaplasma urealyticum to human erythrocytes. Infect Immun 1991;59(1):467-469.

(163) Kahane I, Reisch-Saada A, Almagor M, Abeliuck P, Yatziv S. Glycosidase Activities of Mycoplasmas. Zentralbl Bakteriol 1990;273(3):300-305.

(164) Saada A-, Deutsch V, Kahane I. Interaction of a monoclonal antibody with the urease of Ureaplasma urealyticum. FEMS Microbiol Lett 1988;55(2):187-190.

(165) Saada A-, Kahane I. Purification and characterization of urease from Ureaplasma urealyticum. Zentralbl Bakteriol Mikrobiol Hyg Abt 1 Orig A 1988;269(2):160-167.

(166) Kahane I, Granek J, Reisch-Saada A. The adhesins of Mycoplasma gallisepticum and M. Pneumoniae. Ann Inst Pasteur Microbiol 1984;135(1):25-32.