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Hadassah Medical Center - Gene Therapy: Mitrani-Rosenbaum Stella


Last updated February 2023 - Gene Therapy

List of Publications

(1) Livne H, Avital T, Ruppo S, Harazi A, Mitrani-Rosenbaum S, Daya A. Generation and characterization of a novel gne Knockout Model in Zebrafish. Front Cell Dev Biol 2022;10.

(2) Grinbaum R, Beglaibter N, Mitrani-Rosenbaum S, Kaplan LM, Ben-Zvi D. The Obesogenic and Glycemic Effect of Bariatric Surgery in a Family with a Melanocortin 4 Receptor Loss-of-Function Mutation. Metabolites 2022;12(5).

(3) Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, Argov Z, Fellig Y, Harazi A. Pre Clinical Assessment of AAVrh74.MCK.GNE Viral Vector Therapeutic Potential: Robust Activity Despite Lack of Consistent Animal Model for GNE Myopathy. J Neuromusc Dis 2022;9(1):179-192.

(4) Sela I, Goss V, Becker-Cohen M, Dell A, Haslam SM, Mitrani-Rosenbaum S. The glycomic sialylation profile of GNE Myopathy muscle cells does not point to consistent hyposialylation of individual glycoconjugates. Neuromuscular Disord 2020;30(8):621-630.

(5) Benyamini H, Kling Y, Yakovlev L, Becker Cohen M, Nevo Y, Elgavish S, et al. Upregulation of Hallmark Muscle Genes Protects GneM743T/M743T Mutated Knock-In Mice from Kidney and Muscle Phenotype. J Neuromusc Dis 2020;7(2):119-136.

(6) Yanay N, Elbaz M, Konikov-Rozenman J, Elgavish S, Nevo Y, Fellig Y, et al. Pax7, Pax3 and Mamstr genes are involved in skeletal muscle impaired regeneration of dy2J/dy2J mouse model of Lama2-CMD. Hum Mol Genet 2019;28(20):3369-3390.

(7) Pogoryelova O, Urtizberea JA, Argov Z, Nishino I, Lochmüller H, Roos A, et al. 237th ENMC International Workshop: GNE myopathy – current and future research Hoofddorp, The Netherlands, 14–16 September 2018. Neuromuscular Disord 2019;29(5):401-410.

(8) Harazi A, Becker-Cohen M, Zer H, Moshel O, Hinderlich S, Mitrani-Rosenbaum S. The Interaction of UDP-N-Acetylglucosamine 2-Epimerase/N-Acetylmannosamine Kinase (GNE) and Alpha-Actinin 2 Is Altered in GNE Myopathy M743T Mutant. Mol Neurobiol 2017;54(4):2928-2938.

(9) Harazi A, Chaouat M, Shlomai Z, Levitzki R, Becker-Cohen M, Sadeh M, et al. Survival-apoptosis associated signaling in GNE myopathy-cultured myoblasts. J Recept Signal Transduction 2015;35(4):249-257.

(10) Rokach O, Sekulic-Jablanovic M, Voermans N, Wilmshurst J, Pillay K, Heytens L, et al. Epigenetic changes as a common trigger of muscle weakness in congenital myopathies. Hum Mol Genet 2015;24(16):4636-4647.

(11) Argov Z, Mitrani Rosenbaum S. GNE Myopathy: Two Clusters with History and Several Founder Mutations. J Neuromusc Dis 2015;2:S73-S76.

(12) Elbaz M, Yanay N, Laban S, Rabie M, Mitrani-Rosenbaum S, Nevo Y. Life or death by NFκB, Losartan promotes survival in dy2J /dy2J mouse of MDC1A. Cell Death Dis 2015;6(3).

(13) Yanovsky-Dagan S, Avitzour M, Altarescu G, Renbaum P, Eldar-Geva T, Schonberger O, et al. Uncovering the Role of Hypermethylation by CTG Expansion in Myotonic Dystrophy Type 1 Using Mutant Human Embryonic Stem Cells. Stem Cell Rep 2015;5(2):221-231.

(14) Daya A, Vatine GD, Becker-Cohen M, Tal-Goldberg T, Friedmann A, Gothilf Y, et al. Gne depletion during zebrafish development impairs skeletal muscle structure and function. Hum Mol Genet 2014;23(13):3350-3361.

(15) Tal-Goldberg T, Lorain S, Mitrani-Rosenbaum S. Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing. NeuroMol Med 2014;16(2):322-331.

(16) Huizing M, Carrillo-Carrasco N, Malicdan MCV, Noguchi S, Gahl WA, Mitrani-Rosenbaum S, et al. GNE myopathy: New name and new mutation nomenclature. Neuromuscular Disord 2014;24(5):387-389.

(17) Attali R, Aharoni S, Treves S, Rokach O, Becker Cohen M, Fellig Y, et al. Variable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation. PLoS ONE 2013;8(7).

(18) Sela I, Yakovlev L, Becker Cohen M, Elbaz M, Yanay N, Ben Shlomo U, et al. Variable phenotypes of knockin mice carrying the M712T Gne mutation. NeuroMol Med 2013;15(1):180-191.

(19) Mitrani-Rosenbaum S, Yakovlev L, Becker Cohen M, Telem M, Elbaz M, Yanay N, et al. Sustained expression and safety of human GNE in normal mice after gene transfer based on AAV8 systemic delivery. Neuromuscular Disord 2012;22(11):1015-1024.

(20) Yoshimura T, Yamada G, Narumi M, Koike T, Ishii A, Sela I, et al. Detection of N-glycans on small amounts of glycoproteins in tissue samples and sodium dodecyl sulfate-polyacrylamide gels. Anal Biochem 2012;423(2):253-260.

(21) Nissan A, Stojadinovic A, Mitrani-Rosenbaum S, Halle D, Grinbaum R, Roistacher M, et al. Colon cancer associated transcript-1: A novel RNA expressed in malignant and pre-malignant human tissues. Int J Cancer 2012;130(7):1598-1606.

(22) Milman Krentsis I, Sela I, Eiges R, Blanchard V, Berger M, Becker Cohen M, et al. GNE is involved in the early development of skeletal and cardiac muscle. PLoS ONE 2011;6(6).

(23) Sela I, Krentsis IM, Shlomai Z, Sadeh M, Dabby R, Argov Z, et al. The proteomic profile of hereditary inclusion body myopathy. PLoS ONE 2011;6(1).

(24) Mazeh H, Mizrahi I, Halle D, Ilyayev N, Stojadinovic A, Trink B, et al. Development of a microRNA-based molecular assay for the detection of papillary thyroid carcinoma in aspiration biopsy samples. Thyroid 2011;21(2):111-118.

(25) Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, et al. Mutations and polymorphisms of the skeletal muscle α-actin gene (ACTA1). Hum Mutat 2009;30(9):1267-1277.

(26) Agranat-Meged A, Ghanadri Y, Eisenberg I, Ben Neriah Z, Kieselstein-Gross E, Mitrani-Rosenbaum S. Attention deficit hyperactivity disorder in obese melanocortin-4-receptor (MC4R) deficient subjects: A newly described expression of MC4R deficiency. Am J Med Genet Part B Neuropsychiatr Genet 2008;147(8):1547-1553.

(27) Eisenberg I, Novershtern N, Itzhaki Z, Becker-Cohen M, Sadeh M, Willems PHGM, et al. Mitochondrial processes are impaired in hereditary inclusion body myopathy. Hum Mol Genet 2008;17(23):3663-3674.

(28) Argov Z, Mitrani-Rosenbaum S. The Hereditary Inclusion Body Myopathy Enigma and its Future Therapy. Neurotherapeutics 2008;5(4):633-637.

(29) Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, et al. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: Novel pathways in skeletal muscle? PLoS ONE 2008;3(6).

(30) Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, et al. Distinctive patterns of microRNA expression in primary muscular disorders (Proceedings of the National Academy of Sciences of the United States of America (2007) 104, 43, (17016-17021) DOI: 10.1073/pnas.0708115104). Proc Natl Acad Sci U S A 2008;105(1):399.

(31) Argov Z, Mitrani-Rosenbaum S. Hereditary inclusion body myopathy and other rimmed vacuolar myopathies. Handb Clin Neurol 2007;86:243-253.

(32) Amsili S, Shlomai Z, Levitzki R, Krause S, Lochmuller H, Ben-Bassat H, et al. Characterization of hereditary inclusion body myopathy myoblasts: Possible primary impairment of apoptotic events. Cell Death Differ 2007;14(11):1916-1924.

(33) Eisenberg I, Eran A, Nishino I, Moggio M, Lamperti C, Amato AA, et al. Distinctive patterns of microRNA expression in primary muscular disorders. Proc Natl Acad Sci U S A 2007;104(43):17016-17021.

(34) Krause S, Aleo A, Hinderlich S, Merlini L, Tournev I, Walter MC, et al. GNE protein expression and subcellular distribution are unaltered in HIBM. Neurology 2007;69(7):655-659.

(35) Nissan A, Mitrani-Rosenbaum S. Reply: Specificity of RT-PCR for the detection of minimal residual disease in breast cancer patients [3]. Br J Cancer 2006;94(11):1762.

(36) Nissan A, Jager D, Roystacher M, Prus D, Peretz T, Eisenberg I, et al. Multimarker RT-PCR assay for the detection of minimal residual disease in sentinel lymph nodes of breast cancer patients. Br J Cancer 2006;94(5):681-685.

(37) Penner J, Mantey LR, Elgavish S, Ghaderi D, Cirak S, Berger M, et al. Influence of UDP-GlcNAc 2-epimerase/ManNAc kinase mutant proteins on hereditary inclusion body myopathy. Biochemistry 2006;45(9):2968-2977.

(38) Krause S, Hinderlich S, Amsili S, Horstkorte R, Wiendl H, Argov Z, et al. Localization of UDP-GlcNAc 2-epimerase/ManAc kinase (GNE) in the Golgi complex and the nucleus of mammalian cells. Exp Cell Res 2005;304(2):365-379.

(39) Salama I, Hinderlich S, Shlomai Z, Eisenberg I, Krause S, Yarema K, et al. No overall hyposialylation in hereditary inclusion body myopathy myoblasts carrying the homozygous M712T GNE mutation. Biochem Biophys Res Commun 2005;328(1):221-226.

(40) Hinderlich S, Salama I, Eisenberg I, Potikha T, Mantey LR, Yarema KJ, et al. The homozygous M712T mutation of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase results in reduced enzyme activities but not in altered overall cellular sialylation in hereditary inclusion body myopathy. FEBS Lett 2004;566(1-3):105-109.

(41) Avidor B, Efrat G, Weinberg M, Kra-Oz Z, Satinger J, Mitrani-Rosenbaum S, et al. Insight into the intrinsic sensitivity of the PCR assay used to detect CMV infection in amniotic fluid specimens. J Clin Virol 2004;29(4):260-270.

(42) Hinderlich S, Salama I, Eisenberg I, Mitrani-Rosenbaum S, Nishino I, Noguchi S. Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy [3] (multiple letters). Neurology 2003;61(1):145.

(43) Argov Z, Eisenberg I, Grabov-Nardini G, Sadeh M, Wirguin I, Soffer D, et al. Hereditary inclusion body myopathy: The Middle Eastern genetic cluster. Neurology 2003;60(9):1519-1523.

(44) Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, et al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 2003;21(1):99.

(45) Eisenberg I, Hochner H, Sadeh M, Argov Z, Mitrani-Rosenbaum S. Establishment of the genomic structure and identification of thirteen single-nucleotide polymorphisms in the human RECK gene. Cytogenet Genome Res 2002;97(1-2):58-61.

(46) Eisenberg I, Barash M, Kahan T, Mitrani-Rosenbaum S. Cloning and characterization of a human novel gene C9orf19 encoding a conserved putative protein with an SCP-like extracellular protein domain. Gene 2002;293(1-2):141-148.

(47) Eisenberg I, Hochner H, Levi T, Yelin R, Kahan T, Mitrani-Rosenbaum S. Cloning and characterization of a novel human gene RNF38 encoding a conserved putative protein with a RING finger domain. Biochem Biophys Res Commun 2002;294(5):1169-1176.

(48) Eisenberg I, Avidan N, Potikha T, Hochner H, Chen M, Olender T, et al. The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy. Nat Genet 2001;29(1):83-87.

(49) Amsalem H, Tsvieli R, Zentner BS, Yagel S, Mitrani-Rosenbaum S, Hurwitz A. Monopaternal superfecundation of quintuplets after transfer of two embryos in an in vitro fertilization cycle. Fertil Steril 2001;76(3):621-623.

(50) Eisenberg I, Hochner H, Shemesh M, Levi T, Potikha T, Sadeh M, et al. Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13. Eur J Hum Genet 2001;9(7):501-509.

(51) Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, et al. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 2000;123(6):1229-1237.

(52) Avner R, Wahrman J, Richler C, Ayoub N, Friedmann A, Laufer N, et al. X inactivation-specific transcript expression in mouse oocytes and zygotes. Mol Hum Reprod 2000;6(7):591-594.

(53) Ben-Bassat H, Rosenbaum-Mitrani S, Hartzstark Z, Levitzki R, Chaouat M, Shlomai Z, et al. Tyrphostins that suppress the growth of human papilloma virus 16- immortalized human keratinocytes. J Pharmacol Exp Ther 1999;290(3):1442-1457.

(54) Eisenberg I, Thiel C, Levi T, Tiram E, Argov Z, Sadeh M, et al. Fine-structure mapping of the hereditary inclusion body myopathy locus. Genomics 1999;55(1):43-48.

(55) Argov Z, Eisenberg I, Mitrani-Rosenbaum S. Genetics of inclusion body myopathies. Curr Opin Rheumatol 1998;10(6):543-547.

(56) Lipitz S, Many A, Mitrani-Rosenbaum S, Carp H, Frenkel Y, Achiron R. Obstetric outcome after RhD and Kell testing. Hum Reprod 1998;13(6):1472-1475.

(57) Argov Z, Sadeh M, Eisenberg I, Karpati G, Mitrani-Rosenbaum S. Facial weakness in hereditary inclusion body myopathies. Neurology 1998;50(6):1925-1926.

(58) Mitrani-Rosenbaum S, Tiram E, Eisenberg I, Argov Z, Sadeh M, Karpati G. Recessively-inherited inclusion body myopathies: Genetic studies. Acta Myologica 1997;1:27-30.

(59) Hodak E, Trattner A, Feuerman H, Feinmesser M, Tsvieli R, Mitrani-Rosenbaum S, et al. Lupus miliaris disseminatus faciei - The DNA of Mycobacterium tuberculosis is not detectable in active lesions by polymerase chain reaction. Br J Dermatol 1997;137(4):614-619.

(60) Ben-Bassat H, Rosenbaum-Mitrani S, Hartzstark Z, Shlomai Z, Kleinberger-Doron N, Gazit A, et al. Inhibitors of epidermal growth factor receptor kinase and of cyclin- dependent kinase 2 activation induce growth arrest, differentiation, and apoptosis of human papilloma virus 16-immortalized human keratinocytes. Cancer Res 1997;57(17):3741-3750.

(61) Argov Z, Tiram E, Eisenberg I, Sadeh M, Seidman CE, Seidman JG, et al. Various types of hereditary inclusion body myopathies map to chromosome 9p1-q1. Ann Neurol 1997;41(4):548-551.

(62) Mitrani-Rosenbaum S, Argov Z, Blumenfeld A, Seidman CE, Seidman JG. Hereditary inclusion body myopathy maps to chromosome 9p1-q1. Hum Mol Genet 1996;5(1):159-163.

(63) Reubinoff BE, Avner R, Rojansky N, Manny N, Friedmann A, Laufer N, et al. RhD genotype determination by single sperm cell analysis. AM J OBSTET GYNECOL 1996;174(4):1300-1305.

(64) Avner R, Reubinoff BE, Simon A, Zentner B-, Friedmann A, Mitrani-Rosenbaum S, et al. Management of rhesus isoimmunization by preimplantation genetic diagnosis. Mol Hum Reprod 1996;2(1):60-62.

(65) Smetana Z, Keller T, Leventon-Kriss S, Huszar M, Lindner A, Mitrani-Rosenbaum S, et al. Presence of human papilloma virus in transitional cell carcinoma in Jewish population in Israel. Cell Mol Biol (Noisy-le-grand) 1995;41(8):1017-1023.

(66) Isacsohn M, Dolberg L, Gottschalk Sabag S, Mitrani-Rosenbaum S, Nubani N, Diamant YZ, et al. The inter-relationship of herpes virus, papilloma 16/18 virus infection and PAP smear pathology in Israeli women. Isr J Med Sci 1994;30(5-6):383-387.

(67) Mitrani-Rosenbaum S. Human papillomaviruses and the diagnosis of genital microorganisms. Isr J Med Sci 1994;30(5-6):443-447.

(68) Landau Z, Gross R, Sanilevich A, Friedmann A, Mitrani‐Rosenbaum S. Presence of infective Epstein‐Barr virus in the urine of patients with infectious mononucleosis. J Med Virol 1994;44(3):229-233.

(69) Avner R, Laufer N, Safran A, Kerem B-, Friedmann A, Mitrani-rosenbaum S. Genetics: Preimplantation diagnosis of cystic fibrosis by simultaneous detection of the W1282X and δf508 mutations. Hum Reprod 1994;9(9):1676-1680.

(70) Mitrani-Rosenbaum S, Tsvieli R, Lavie O, Boldes R, Anteby E, Shimonovitch S, et al. Simultaneous detection of three common sexually transmitted agents by polymerase chain reaction. Am J Obstet Gynecol 1994;171(3):784-790.

(71) Ho L, Chan S-, Burk RD, Das BC, Fujinaga K, Icenogle JP, et al. The genetic drift of human papillomavirus type 16 is a means of reconstructing prehistoric viral spread and the movement of ancient human populations. J Virol 1993;67(11):6413-6423.

(72) Sherman L, Golan Y, Mitrani-Rosenbaum S, Baram A. Differential expression of HPV types 6 and 11 in condylomas and cervical preneoplastic lesions. Virus Res 1992;25(1-2):23-36.

(73) Wolf R, Tamir A, Weinberg M, Mitrani‐Rosenbaum S, Brenner S. Eczema Herpeticum Induced by Sun Exposure. Int J Dermatol 1992;31(4):298-299.

(74) Mitrani-Rosenbaum S, Tsvieli R. Differential cooperation of a carcinogen with human papillomavirus type 6 and 16 DNAs in vitro oncogenic transformation. Intervirology 1992;33(2):76-85.

(75) Ezra Y, Mitrani-Rosenbaum S, Everhadani P, Tsvieli R, Anteby SO. The incidence of human papillomavirus infection in student's population. CERVIX LOWER FEMALE GENITAL TRACT 1991;9(3):131-133.

(76) Garlick JA, Calderon S, Mitrani-Rosenbaum S. Focal epithelial hyperplasia. J Am Acad Dermatol 1989;21(5):1036-1037.

(77) Gal D, Friedman M, Mitrani-Rosenbaum S. Transmissibility and treatment failures of different types of human papillomavirus. Obstet Gynecol 1989;73(3):308-311.

(78) Mitrani-Rosenbaum S, Tsvieli R, Tur-Kaspa R. Oestrogen stimulates differential transcription of human papillomavirus type 16 in SiHa cervical carcinoma cells. J Gen Virol 1989;70(8):2227-2232.

(79) Garlick JA, Calderon S, Buchner A, Mitrani‐Rosenbaum S. Detection of human papillomavirus (HPV) DNA in focal epithelial hyperplasia. J Oral Pathol Med 1989;18(3):172-177.

(80) Mitrani-Rosenbaum S, Gal D, Friedman M, Kitron N, Tsvieli R, Mordel N, et al. Papillomaviruses in lesions of the lower genital tract in Israeli patients. Eur J Cancer Clin Oncol 1988;24(4):725-731.

(81) Mitrani-Rosenbaum S. Use of a stable bovine papillomavirus vector to study inducible genes. Intervirology 1988;29(2):108-114.

(82) Garlick JA, Calderon S, Mitrani-Rosenbaum S. Human papillomavirus (HPV) and its role in oral disease--an overview. Refuat Hashinayim 1987;5(4):25-30.

(83) Mitrani-Rosenbaum S, Kitron N. Integration and transcription of human papillomavirus type 6 recombinant DNA in mouse cells. Virus Res 1987;8(4):335-347.

(84) Maroteaux L, Chen L, Mitrani-Rosenbaum S, Howley PM, Revel M. Cycloheximide induces expression of the human interferon β1 gene in mouse cells transformed by bovine papillomavirus-interferon β1 recombinants. J Virol 1983;47(1):89-95.

(85) Mitrani-Rosenbaum S, Maroteaux L, Mory Y, Revel M, Howley PM. Inducible expression of the human interferon β1 gene linked to a bovine papilloma virus DNA vector and maintained extrachromosomally in mouse cells. Mol Cell Biol 1983;3(2):233-240.

(86) Mitrani‐Rosenbaum S, Ber R, Goldblum N, Povey S, Gamliel H, Ben‐Bassat H. Hybridization between a human epithelial line, infectable by Epstein‐Barr virus, and burkitt lymphoma lines: Membrane properties, superinfectability, inducibility and tumorigenicity. Int J Cancer 1982;30(5):593-600.

(87) Ben-Bassat H, Mitrani-Rosenbaum S, Goldblum N. Induction of Epstein-Barr virus nuclear antigen and DNA synthesis in a human epithelial cell line after Epstein-Barr virus infection. J Virol 1982;41(2):703-708.

(88) Katz E, Mitrani-Rosenbaum S, Margalith E, Ben-Bassat H. Interaction of herpes simplex virus with human cell lines at various stages of lymphoid differentiation. Intervirology 1981;16(1):33-42.

(89) Ben-Bassat H, Penchas S, Polliack A, Mitrani-Rosenbaum S, Naparstek E, Matzner Y, et al. Changes in the Con-A-induced redistribution pattern of lymphocytes: A possible aid in the differential diagnosis between malignant lymphoma and other diseases. Blood 1980;55(2):205-210.

(90) Ben‐Bassat H, Mitrani‐Rosenbaum S, Gamliel H, Naparstek E, Leizerowitz R, Korkesh A, et al. Establishment in continuous culture of a T‐lymphoid cell line (HD‐Mar) from a patient with Hodgkin's lymphoma. Int J Cancer 1980;25(5):583-590.

(91) Ben‐Bassat H, Polliack A, Mitrani‐Rosenbaum S, Reichert F, Froimovici M, Goldblum N. A comparative study of human cell lines derived from patients with lymphoma, leukemia and infectious mononucleosis. Membrane properties, ultrastructure, and surface morphology. Cancer 1977;40(4):1481-1491.