Results 21 to 30 of about 12,273 (193)

INNOVATIVE SPLICE SWITCHING OLIGONUCLEOTIDE THERAPY FOR NIEMANN-PICK TYPE C1 DISEASE

IBRO Neuroscience Reports, 2023
Maria Martinez De Lagran, Yu-Han Huang, Ondrej Kostov, Haiyan Zhou, Paul Gissen, Marvin Caruthers, Timothy Yu, Daniel Ginberg, Mara Dierssen   +8 more
doaj   +2 more sources

Methyl-β-cyclodextrin restores impaired autophagy flux in Niemann-Pick C1-deficient cells through activation of AMPK [PDF]

Autophagy, 2017
Austin, Christopher P., Dai, Sheng, Dulcey, Andres E., Hu, Xin, Marugan, Juan, Ory, Daniel S., Porter, Forbes D., Wassif, Christopher A., Zheng, Wei   +8 more
core   +4 more sources

Gene Therapy in a Mouse Model of Niemann-Pick Disease Type C1. [PDF]

Hum Gene Ther, 2021
Niemann-Pick disease type C1 (NPC1) is a fatal congenital neurodegenerative disorder caused by mutations in the NPC1 gene, which is involved in cholesterol transport in lysosomes. Broad clinical manifestations of NPC1 include liver failure, pulmonary disorder, neurological deficits, and psychiatric symptoms.
Kurokawa Y, Osaka H, Kouga T, Jimbo E, Muramatsu K, Nakamura S, Takayanagi Y, Onaka T, Muramatsu SI, Yamagata T.   +9 more
europepmc   +3 more sources

Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1. [PDF]

Am J Med Genet A, 2021
ABSTRACTNiemann‐Pick disease type C (NPC) is a rare and fatal lysosomal storage disorder characterized by neurodegeneration and hepatic involvement. Mutations in either NPC1 or NPC2, two genes encoding lysosomal proteins, lead to an intracellular accumulation of unesterified cholesterol and sphingolipids in late endosomes/lysosomes.
Rodriguez-Gil JL, Bianconi SE, Farhat N, Kleiner DE, Nelson M, Porter FD.   +5 more
europepmc   +3 more sources

Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella. [PDF]

Int J Mol Sci, 2020
Niemann–Pick disease, type C1 (NPC1) is a lysosomal disease characterized by endolysosomal storage of unesterified cholesterol and decreased cellular cholesterol bioavailability. A cardinal symptom of NPC1 is cerebellar ataxia due to Purkinje neuron loss.
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Martin K, Navid F, Iben J, Wassif CA, Cawley NX, Porter FD.   +9 more
europepmc   +4 more sources

mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts [PDF]

Molecular Pharmaceutics, 2022
AbstractMessenger RNA (mRNA) holds great potential as a disease-modifying treatment for a wide array of monogenic disorders. Niemann-Pick disease type C1 (NP-C1) is an ultra-rare monogenic disease that arises due to loss-of-function mutations in theNPC1gene, resulting in the entrapment of unesterified cholesterol in the lysosomes of affected cells and ...
Denzil Furtado, Christina Cortez-Jugo, Ya Hui Hung, Ashley I. Bush, Frank Caruso   +4 more
openaire   +3 more sources

Anti-TNF therapy for inflammatory bowel disease in patients with neurodegenerative Niemann-Pick disease Type C [version 1; peer review: 2 approved]

Wellcome Open Research, 2022
Background:  Blockade of tumour necrosis factor (anti-TNF) is effective in patients with Crohn’s Disease but has been associated with infection risk and neurological complications such as demyelination.
David Smith, Nada Al Eisa, Isabelle Williams, Wolfram Haller, Sumeet Pandey, Alicia Chan, Hien Quoc Huynh, Holm H. Uhlig, Ruth Bettels, Gesche Düeker, Chinenye R. Dike, Laurent Peyrin-Biroulet, Thorsten Marquardt, Catherine DeGeeter, Frances M. Platt, Nick Platt, Tobias Schwerd   +16 more
doaj   +1 more source

Auditory Phenotype of Niemann-Pick Disease, Type C1 [PDF]

Ear & Hearing, 2014
The aim of this study was to comprehensively evaluate the auditory phenotype in Niemann-Pick disease, type C1 (NPC1), to understand better the natural history of this complex, heterogeneous disorder, and to define further the baseline auditory deficits associated with NPC1 so that use of potentially ototoxic interventions (e.g., 2-hydroxypropyl-ß ...
Kelly A, King, Sandra, Gordon-Salant, Nicole, Yanjanin, Christopher, Zalewski, Ari, Houser, Forbes D, Porter, Carmen C, Brewer   +6 more
openaire   +2 more sources

Toll-like receptor mediated lysozyme expression in Niemann-pick disease, type C1. [PDF]

Mol Genet Metab, 2020
Niemann-Pick type C1 (NPC1) is a rare neurodegenerative disease. In NPC1 mouse cerebella, the antibacterial enzyme, lysozyme (Lyz2), is significantly increased in multiple cell types. Due to its possible role in toxic fibril deposition, we confirmed Lyz2 overexpression in culture in different control and NPC1 cell types including human NPC1 fibroblasts.
Cougnoux A, Yerger JC, Fellmeth M, Serra-Vinardell J, Wassif CA, Cawley NX, Porter FD.   +6 more
europepmc   +4 more sources

Altered transition metal homeostasis in Niemann–Pick disease, type C1 [PDF]

Metallomics, 2014
The Niemann–Pick type C1 disease protein, NPC1 may have a critical role in transition metal homeostasis.
Hung, YH, Faux, NG, Killilea, DW, Yanjanin, N, Firnkes, S, Volitakis, I, Ganio, G, Walterfang, M, Hastings, C, Porter, FD, Ory, DS, Bush, AI   +11 more
openaire   +3 more sources