Results 1 to 10 of about 12,204 (152)

Defective platelet function in Niemann‐Pick disease type C1 [PDF]

JIMD Reports, 2020
Niemann‐Pick disease type C (NPC) is a neurodegenerative lysosomal storage disorder caused by mutations in either NPC1 (95% of cases) or NPC2. Reduced late endosome/lysosome calcium (Ca2+) levels and the accumulation of unesterified cholesterol and ...
Oscar C. W. Chen, Alexandria Colaco, Lianne C. Davis, Fedir N. Kiskin, Nicole Y. Farhat, Anneliese O. Speak, David A. Smith, Lauren Morris, Emily Eden, Patricia Tynan, Grant C. Churchill, Antony Galione, Forbes D. Porter, Frances M. Platt   +13 more
doaj   +4 more sources

Phenotypic expression of swallowing function in Niemann–Pick disease type C1 [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Niemann–Pick disease type C1 (NPC1) is a rare autosomal recessive disease characterized by endolysosomal accumulation of unesterified cholesterol with progressive deterioration in swallowing, often leading to premature death.
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Nicole M. Farhat, Andrew C. Smith, Simona Bianconi, An Dang Do, Michael C. Backman, Leonza Machielse, Forbes D. Porter   +9 more
doaj   +2 more sources

Peripheral immune system modulates Purkinje cell degeneration in Niemann–Pick disease type C1 [PDF]

Life Science Alliance, 2023
We demonstrate that peripheral immune cells are involved in the cerebral neuronal degeneration in Niemann–Pick disease type C1. Our work can contribute to a novel therapeutic strategy that can potentially be combined with the ongoing lipid reduction ...
Toru Yasuda, Toru Uchiyama, Nobuyuki Watanabe, Noriko Ito, Kazuhiko Nakabayashi, Hideki Mochizuki, Masafumi Onodera   +6 more
doaj   +2 more sources

Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1 [PDF]

Biomarker Research, 2023
Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment.
Kiersten Campbell, Niamh X. Cawley, Rachel Luke, Katelin E. J. Scott, Nicholas Johnson, Nicole Y. Farhat, Derek Alexander, Christopher A. Wassif, Wenping Li, Stephanie M. Cologna, Elizabeth Berry-Kravis, An Dang Do, Ryan K. Dale, Forbes D. Porter   +13 more
doaj   +2 more sources

Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1 [PDF]

Frontiers in Pharmacology, 2021
Background: Niemann-Pick disease type C1 (NP-C1) is a rare, autosomal-recessive neurodegenerative disorder with no United States Food and Drug Administration (FDA)-approved drug.
Shiqian Han, Huiwen Zhang, Mengni Yi, Xiaoqing Liu, Gustavo H. B. Maegawa, Yunding Zou, Qijun Wang, Qijun Wang, Qijun Wang, Dianqing Wu, Dianqing Wu, Zhijia Ye, Zhijia Ye   +12 more
doaj   +2 more sources

Modulation of glutamate metabolism in Niemann-pick disease type C1 mice [PDF]

Molecular Genetics and Metabolism Reports
Niemann-Pick disease, type C1 (NPC1) is a lysosomal disease that results in progressive loss of Purkinje neurons. Previous work has implicated dysregulation of glutamate signaling as a potential pathogenic mechanism.
Antony Cougnoux, Carolina S. Alvarez, Andrea Gutierrez Maria, Emelin Hernandez, Niamh X. Cawley, Cristin D. Davidson, Forbes D. Porter   +6 more
doaj   +2 more sources

Optimization of systemic AAV9 gene therapy in Niemann–Pick disease, type C1 mice [PDF]

Life Science Alliance
Systemic AAV9-h NPC1 gene therapy in null Npc1 m1N mice at higher doses or with earlier administration and treatment of hypomorphic Npc1 I1061T mice delays disease progression and increases lifespan. Niemann–Pick disease, type C1 (NPC1), is a rare, fatal
Avani V Mylvara, Alana L Gibson, Tansy Gu, Cristin D Davidson, Arturo A Incao, Katerina Melnyk, Susan R Gembic, Dominick Pierre-Jacques, Stephanie M Cologna, Charles P Venditti, Forbes D Porter, William J Pavan   +11 more
doaj   +2 more sources

CffDNA screening for Niemann–pick disease, type C1: a case series [PDF]

Frontiers in Medicine
Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions.
Sydney A. Lau, Romy I. Fawaz, Robert Rigobello, Shahad Bawazeer, Nouf M. Alajaji, Eissa Faqeih, Yanchun Li, Yanming Feng, Fan Xia, Fan Xia, Christine M. Eng, Christine M. Eng, Malak Abedalthagafi, Malak Abedalthagafi   +13 more
doaj   +2 more sources

Phenotype assessment for neurodegenerative murine models with ataxia and application to Niemann–Pick disease, type C1 [PDF]

Biology Open, 2022
Identifying meaningful predictors of therapeutic efficacy from preclinical studies is challenging. However, clinical manifestations occurring in both patients and mammalian models offer significant translational value.
Julia Yerger, Antony C. Cougnoux, Craig B. Abbott, Rachel Luke, Tannia S. Clark, Niamh X. Cawley, Forbes D. Porter, Cristin D. Davidson   +7 more
doaj   +2 more sources

Accumulation of alkyl-lysophosphatidylcholines in Niemann-Pick disease type C1 [PDF]

Journal of Lipid Research
Lysosomal function is impaired in Niemann-Pick disease type C1 (NPC1), a rare and inherited neurodegenerative disorder, resulting in late endosomal/lysosomal accumulation of unesterified cholesterol.
Sonali Mishra, Pamela Kell, David Scherrer, Dennis J. Dietzen, Charles H. Vite, Elizabeth Berry-Kravis, Cristin Davidson, Stephanie M. Cologna, Forbes D. Porter, Daniel S. Ory, Xuntian Jiang   +10 more
doaj   +2 more sources