Sidransky Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Ellen Sidransky, M.D.

Senior Investigator, Medical Genetics Branch
Head, Molecular Neurogenetics Section

Selected Publications

Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D. Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell, 146: 37-52, 2011. [PubMed]

Yap TL, Gruschus JM, Velayati A, Westbroek W, Goldin E, Moaven N, Sidransky E, Lee JC. Alpha-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases. J Biol Chem, 286:28080-8, 2011. [PubMed]

Velayati A, Depaolo J, Gupta N, Choi JH, Moaven N, Westbroek W, Goker-Alpan O, Goldin E, Stubblefield BK, Kolodny E, Tayebi N, Sidransky E. A Mutation in SCARB2 is a Modifier in Gaucher Disease. Hum Mutat, 32:1232-8. 2011. [PubMed]

Choi JH, Stubblefield B, Cookson MR, Goldin E, Velayati A, Tayebi N, Sidransky E. Aggregation of ?-synuclein in brain samples from subjects with glucocerebrosidase mutations. Mol Genet Metab, 104:185. 2011. [PubMed]

Westbroek W, Gustafson AM, Sidransky E. Exploring the link between glucocerebrosidase mutations and parkinsonism. Trends Mol Med, 17(9):485-93. 2011. [PubMed]

Blech-Hermoni YN, Ziegler SG, Hruska KS, Stubblefield BK, LaMarca ME, Portnoy ME; NISC Comparative Sequencing Program, Green ED, Sidransky E. In silico and functional studies of the regulation of the glucocerebrosidase gene. Mol Genet Metab, 99:275-82. 2010. [PubMed]

DePaolo J, Goker-Alpan O, Samaddar T, Sidransky E. The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism. Mov Disord, 24;1574-8. 2009. [PubMed]

Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz G, Annesi ER and et. al. Multi-center analysis of glucocerebrosidase mutations in Parkinson disease. N Engl J Med, 361:1651-1661. 2009. [PubMed]

Goker-Alpan O, Lopez G, Davis J, Hallett M, Sidransky E. The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. Arch Neurol, 65:1353-7. 2009. [PubMed]

Staretz-Chachem O, Lang TC, LaMarca ME, Krasnewich D, Sidransky E. Lysosomal storage disorders in newborns. Pediatr, 123:1191-1207. 2009. [PubMed]

Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutations and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutation, 29:567-83. 2008. [PubMed]

Zheng W, Padia J, Urban DJ, Jadhav A, Goker-Alpan O, Simenov A, Goldin E, Auid D, LaMarca ME, Ingles J, Austin CP, Sidransky E. Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease. PNAS, 104: 13192-13197. 2007. [PubMed]

Goker-Alpan O, Giasson BI, Eblan MJ, Nguyen J, Hurtig HI, Lee VM, Trojanowski JQ, Sidransky E. Glucocerebrosidase mutations are an important risk factor for Lewy body disorders. Neurology, (6)21. 2006. [PubMed]

Goker-Alpan O, Hruska KS, Orvisky E, et al. Divergent phenotypes in Gaucher disease implicate the role of modifiers. J Med Genet, 42(6):e37. 2005. [PubMed]

Sidransky E. Gaucher disease: complexity in a "simple" disorder. Mol Genet Metab, 83:6-15. 2004. [PubMed]

Goker-Alpan O, Schiffmann R, LaMarca ME, Nussbaum RL, McInerny-Leo A, Sidransky E. Parkinsonism among Gaucher disease carriers. J Med Genet, 41:937-940. 2004. [PubMed]

Lwin A, Orvisky E, Goker-Alpan O, LaMarca ME, Sidransky E. Glucocerebrosidase mutations in subjects with parkinsonism. Mol Genet Metab, 81:70-3. 2004. [PubMed]

Tayebi N, Walker JM, Stubblefield BK, Orvisky E, LaMarca ME, Wong K, Rosenbaum H, Schiffmann R, Bembi B, Sidranksy E. Gaucher disease with Parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol Genet Metab, 79:104-9. 2003. [PubMed]

Tayebi N, Stubblefield BK, Park JK, Orvisky E, Walker JM, LaMarca ME, Sidransky E. Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. Am J Hum Genet, 72:519-34. 2003. [PubMed]

Park JK, Orvisky E, Tayebi N, Kaneski C, LaMarca ME, Stubblefield BK, Martin BM, Schiffmann R, Sidransky E. Myoclonic epilepsy in Gaucher disease: Genotype-phenotype insights from a rare patient subgroup. Pediatr Res, 53:387-395. 2003. [PubMed]

Orvisky E, Park JK, LaMarca ME, Ginns EI, Krasnewich D, Martin BM, Tayebi N, Sidransky E. Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Mol Genet Metab, 76:262-70. 2002. [PubMed]

Koprivica V, Stone DL, Park JK, Frish A, Cohen I, Tayebi N, Sidransky E. An analysis and classification of 304 mutant alleles in patients with Type 1 and Type 3 Gaucher disease. Am J Hum Genet, 66:1777-1786. 2000. [PubMed]

Orvisky E, Sidransky E, McKinney CE, LaMarca ME, Samimi R, Krasnewich D, Martin BM, Ginns EI. Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res, 48:1-5. 2000. [PubMed]

Stone DL, Tayebi N, Orvisky E, Stubblefield BK, Madike V, Sidransky E. Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. Hum Mutat, 15:181-188. 2000. [PubMed]

Stone DL, Sidransky E. Hydrops fetalis: Lysosomal storage disorders in extremis. Adv Pediatr, Vol. 46, pp 409-440. 1999. [PubMed]

Winfield SL, Tayebi N, Martin BM, Ginns EI, Sidransky E. Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: Implications for Gaucher disease. Genome Res, 7:1020-1026. 1997. [PubMed]

Holleran WM, Ginns EI, Menon GK, Grundmann JU, Fartasch M, McKinney C, Elias PM, Sidransky E. Consequences of beta-glucocerebrosidase deficiency in epidermis: ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest, 93:1756-1764. 1994. [PubMed]

Sidransky E, Sherer DM, Ginns EI. Gaucher disease in the neonate: A distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res, 32:494-498. 1992. [PubMed]

Book Chapters

Krasnewich D and Sidransky E. Chapter 215: The lysosomal storage disorders in Cecil Textbook of Medicine. 24rd edition. 2011.

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Last Reviewed: August 19, 2013