Results 21 to 30 of about 15,838 (212)

Swallowing characterization of adult-onset Niemann-Pick, type C1 patients

Orphanet Journal of Rare Diseases
Background Niemann-Pick disease, type C1 (NPC1) is a rare lysosomal disorder with progressive neurological manifestations, historically recognized as a pediatric disease.
Beth I. Solomon, Andrea M. Muñoz, Ninet Sinaii, Hibaaq Mohamed, Nicole M. Farhat, Derek Alexander, An Dang Do, Forbes D. Porter   +7 more
doaj   +3 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

Niemann-Pick C1 [PDF]

Current Biology, 2002
What is it? Niemann-Pick C1 (NPC1) is a 1278 amino acid membrane protein residing in the endosomal–lysosomal system. Studies in humans and animal models substantiate NPC1 as a crucial player in intracellular cholesterol trafficking.Can we live without it?
Liscum, Laura, Wojtanik, Kari
openaire   +2 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

A progressive neurological condition with acquired sea-blue histiocytosis further the diagnosis of Niemann-Pick type C1 in a 10-year-old boy

Indian Journal of Pathology and Microbiology, 2020
Sea-blue histiocytes in bone marrow can be associated with a number of conditions and have indeed often been reported in Niemann-Pick diseases, mostly in Niemann-Pick type B, but also Niemann-Pick type C.
Li Wang, Jingmin Sun, Xiaoyan Xu, Longxiang Tao, De Wu, Ying Zhang   +5 more
doaj   +1 more source

PKC activation in Niemann pick C1 cells restores subcellular cholesterol transport. [PDF]

PLoS ONE, 2013
Activation of protein kinase C (PKC) has previously been shown to ameliorate the cholesterol transport defect in Niemann Pick Type C1 (NPC1) cells, presumably by increasing the soluble levels of one of its substrates, vimentin.
Farshad Tamari, Fannie W Chen, Chunlei Li, Jagrutiben Chaudhari, Yiannis A Ioannou   +4 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

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

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   +1 more source

Parkinsonism syndrome in heterozygotes for Niemann–Pick C1 [PDF]

Journal of the Neurological Sciences, 2013
Niemann-Pick C (NPC) disease is a rare autosomal recessive lipid storage disorder. We report here the unique occurrence of three adult heterozygous carriers of mutations in the NPC1 gene who also have a parkinsonism syndrome. This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon ...
Hans H, Kluenemann, John G, Nutt, Marie Y, Davis, Thomas D, Bird   +3 more
openaire   +2 more sources

Ezetimibe interferes with cholesterol trafficking from the plasma membrane to the endoplasmic reticulum in CaCo-2 cells

Journal of Lipid Research, 2007
Niemann-Pick C1-like 1 protein (NPC1L1) is the putative intestinal sterol transporter and the molecular target of ezetimibe, a potent inhibitor of cholesterol absorption.
F. Jeffrey Field, Kim Watt, Satya N. Mathur   +2 more
doaj   +1 more source