John F. Staropoli, Ph.D.
Affiliations: | 2005 | Columbia University, New York, NY |
Area:
Molecular Mechanisms of Neurodegeneration and the Life Cycle of Dopamine Neurons, Neurobiology of Disease, Stem Cell BiologyGoogle:
"John Staropoli"Mean distance: 35622
Parents
Sign in to add mentor| Asa Abeliovich | grad student | 2005 | Columbia | |
| (The ubiquitin ligase Parkin and its regulation of neuronal apoptosis.) | ||||
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Publications
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| Ward ME, Chen R, Huang HY, et al. (2017) Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis. Science Translational Medicine. 9 |
| Jangi M, Fleet C, Cullen P, et al. (2017) SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage. Proceedings of the National Academy of Sciences of the United States of America |
| Berkovic SF, Staropoli JF, Carpenter S, et al. (2016) Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). Neurology |
| Henderson MX, Wirak GS, Zhang YQ, et al. (2015) Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation. Acta Neuropathologica |
| Lojewski X, Staropoli JF, Biswas-Legrand S, et al. (2014) Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Human Molecular Genetics. 23: 2005-22 |
| Cotman SL, Karaa A, Staropoli JF, et al. (2013) Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Current Neurology and Neuroscience Reports. 13: 366 |
| Smith KR, Dahl HH, Canafoglia L, et al. (2013) Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis. Human Molecular Genetics. 22: 1417-23 |
| Staropoli JF, Karaa A, Lim ET, et al. (2012) A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. American Journal of Human Genetics. 91: 202-8 |
| Staropoli JF, Xin W, Barone R, et al. (2012) An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. Bmc Medical Genetics. 13: 50 |
| Cotman SL, Staropoli JF. (2012) The juvenile Batten disease protein, CLN3, and its role in regulating anterograde and retrograde post-Golgi trafficking. Clinical Lipidology. 7: 79-91 |