Results 191 to 200 of about 25,991 (220)

Cellular pathology of Niemann–Pick type C disease

Seminars in Cell & Developmental Biology, 2004
Niemann-Pick type C (NPC) is a lysosomal storage disorder that results in the accumulation of cholesterol and sphingolipids. Mutations in the NPC1 or NPC2 gene are responsible for the disease but the precise functions of the encoded proteins remain unresolved.
Elina, Ikonen, Maarit, Hölttä-Vuori
openaire   +2 more sources

Neurodegeneration in Niemann-Pick type C disease mice

Experimental Brain Research, 2001
Niemann-Pick disease type C (NP-C) is an inherited neurodegenerative disorder associated with intracellular cholesterol and glycolipid trafficking defects. Two separate genes, NPC1 and NPC2, have been linked to NP-C. NPC1 encodes a polytopic membrane-bound protein with a putative sterol-sensing domain.
Ong, W.-Y., Kumar, U., Switzer, R.C., Sidhu, A., Suresh, G., Hu, C.-Y., Patel, S.C.   +6 more
openaire   +2 more sources

Niemann-Pick Disease—Type C

Archives of Ophthalmology, 1985
The presence of lipid storage was demonstrated in type C Niemann-Pick disease by histopathologic and ultrastructural studies. Pleomorphic membranous inclusions, with variable proportions of light and dark granular material, were observed within the conjunctival fibrocytes, endothelial cells and pericytes, keratocytes, lens epithelium, retinal ganglion ...
M, Palmer, W R, Green, I H, Maumenee, D L, Valle, H S, Singer, S J, Morton, H W, Moser   +6 more
openaire   +2 more sources

Niemann—Pick type C disease in a child

Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova, 2017
The authors consider a clinical case of Niemann-Pick disease type C, an orphan hereditary autosomal recessive neurodegenerative disease belonging to the group of lysosomal storage disease, in an 11-year female patient with the late infantile form of the disease.
E S, Novikova, A S, Kotov, Yu Yu, Kotalevskaya, L Yu, Glukhova, M S, Bunak, N A, Semenova   +5 more
openaire   +2 more sources

Feline sphingolipidosis resembling Niemann-Pick disease type C

Acta Neuropathologica, 1990
A 9-week old domestic short-hair kitten with progressive neurological dysfunction had histopathological lesions consistent with a lysosomal storage disease. Light microscopy of the brain, spinal cord, and ganglia revealed distention and vacuolation of many neuronal populations, and extensive neuroaxonal dystrophy.
A C, Lowenthal, J F, Cummings, D A, Wenger, M A, Thrall, P A, Wood, A, de Lahunta   +5 more
openaire   +2 more sources

Type C Niemann-Pick disease

Brain and Development, 1993
Jun Tohyama, Mitsuhiro Kato, Tatsuya Koeda, Kousaku Ohno   +3 more
openaire   +1 more source

Niemann-Pick disease type C

2022
openaire   +1 more source

Niemann-Pick Disease Type C

2018
Yann Nadjar, Marie T. Vanier
openaire   +1 more source

Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C

Developmental Cell, 2021
Yu-Xiang Xie, Sunan Li, Ning Huang
exaly  

Niemann-Pick Disease (Type C)

American Journal of Ophthalmology, 1972
Jared M. Emery, William R. Green, Dale S. Huff, Howard R. Sloan   +3 more
openaire   +1 more source