Results 1 to 10 of about 7,107 (122)

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

Life Sci 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 ...
Yasuda T, Uchiyama T, Watanabe N, Ito N, Nakabayashi K, Mochizuki H, Onodera M.   +6 more
europepmc   +2 more sources

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

Orphanet J Rare Dis, 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.
Solomon BI, Muñoz AM, Sinaii N, Farhat NM, Smith AC, Bianconi S, Dang Do A, Backman MC, Machielse L, Porter FD.   +9 more
europepmc   +2 more sources

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

Mol Genet Metab Rep
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.
Cougnoux A, Alvarez CS, Maria AG, Hernandez E, Cawley NX, Davidson CD, Porter FD.   +6 more
europepmc   +2 more sources

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

Front Pharmacol, 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.
Han S, Zhang H, Yi M, Liu X, Maegawa GHB, Zou Y, Wang Q, Wu D, Ye Z.   +8 more
europepmc   +2 more sources

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

Life Sci 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
Mylvara AV, Gibson AL, Gu T, Davidson CD, Incao AA, Melnyk K, Gembic SR, Pierre-Jacques D, Cologna SM, Venditti CP, Porter FD, Pavan WJ.   +11 more
europepmc   +2 more sources

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

Front Med (Lausanne)
Cell-free fetal DNA (cffDNA) screening is a valuable tool in clinical practice for detecting chromosomal abnormalities and autosomal dominant (AD) conditions.
Lau SA, Fawaz RI, Rigobello R, Bawazeer S, Alajaji NM, Faqeih E, Li Y, Feng Y, Xia F, Eng CM, Abedalthagafi M.   +10 more
europepmc   +2 more sources

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

JIMD Rep, 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 ...
Chen OCW, Colaco A, Davis LC, Kiskin FN, Farhat NY, Speak AO, Smith DA, Morris L, Eden E, Tynan P, Churchill GC, Galione A, Porter FD, Platt FM.   +13 more
europepmc   +2 more sources

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

Biomark Res, 2023
Background Niemann-Pick disease, type C1 (NPC1) is an ultrarare, recessive, lethal, lysosomal disease characterized by progressive cerebellar ataxia and cognitive impairment.
Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD.   +13 more
europepmc   +2 more sources

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

Biol 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.
Yerger J, Cougnoux AC, Abbott CB, Luke R, Clark TS, Cawley NX, Porter FD, Davidson CD.   +7 more
europepmc   +2 more sources

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

J Lipid Res
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.
Mishra S, Kell P, Scherrer D, Dietzen DJ, Vite CH, Berry-Kravis E, Davidson C, Cologna SM, Porter FD, Ory DS, Jiang X.   +10 more
europepmc   +2 more sources