NIH

Ellen Sidransky, M.D.

Senior Investigator, Medical Genetics Branch
Head, Molecular Neurogenetics Section

Selected Publications

Aflaki E, Moaven N, Borger DK, Lopez G, Westbroek W, Chae JJ, Marugan J, Patnaik S, Maniwang E, Gonzalez AN, Sidransky E. Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages. Aging Cell, Oct 21, 2015 Oct 21. [PubMed]

Siebert M, Westbroek W, Chen Y-C, Moaven N, Li Y, Velayati A, Saraiva-Pereira ML, Martin SE, Sidransky E. Identification of miRNAs that modulate glucocerebrosidase activity in Gaucher disease cells. RNA Biology, 11:12901-13000. 2014. [PubMed]

Aflaki E, Lopez G, Stubblefield B. K,  Goldin E , Maniwang E, Marugan J, Tayebi N, Sidransky E: Macrophage models of Gaucher disease for evaluating candidate drugs and disease pathogenesis. Science Translational Medicine, 6, 240ra73. 2014. [PubMed]

Siebert M, Sidransky E, Westbroek W. Glucocerebrosidase is shaking up the synucleinopathies. Brain, 137:1304-22 2014. [PubMed]

Nalls MA, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith IG, et. al. A multicenter study of glucocerebrosidase mutations in Dementia with Lewy Bodies. JAMA Neurology, 70:727-35, 2013. [PubMed]

Sidransky E and Lopez G. The enigmatic link between GBA and parkinsonism. Lancet Neuro, 11:986-98, 2012. [PubMed]

Goldin E, Zheng W, Motabar O, Southall N, Choi JH, Marugan J, Austin CP, Sidransky E. High throughput screening for small molecule therapy for Gaucher disease using patient tissue as the source of mutant glucocerebrosidase. PLoS One, 7:e29861. 2012. [PubMed]

Goker-Alpan O, Masdue JC, Kohn PD, Inanni A, Lopez G, Groden C, et. al. The neurobiology of glucocerebrosidase-associated parkinsonism: A PET study of dopamine synthesis and rCBF. Brain, 135:2440-8. 2012. [PubMed]

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]

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]

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]

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]

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]

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 Updated: December 7, 2015