Results 151 to 160 of about 14,662 (177)

Structural Insight into Eukaryotic Sterol Transport through Niemann-Pick Type C Proteins

Cell, 2019
Stephen Muench, Bjørn Panyella Pedersen, Shaun Rawson   +2 more
exaly  

Clinical and Molecular Features of Early Infantile Niemann Pick Type C Disease

International Journal of Molecular Sciences, 2020
Paul Gissén, Ahad Rahim, Berna Şeker Yilmaz   +2 more
exaly  

Niemann–Pick C disease in Spain: Clinical spectrum and development of a disability scale

Journal of the Neurological Sciences, 2006
Mercedes Pineda, Marie T Vanier, M T Vanier   +2 more
exaly  

Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease

Journal of Pediatrics, 2006
Robert Desnick, Scott Brodie, Melissa Wasserstein   +2 more
exaly  

Characterization of the Niemann-Pick C pathway in alveolar type II cells and lamellar bodies of the lung

American Journal of Physiology - Lung Cellular and Molecular Physiology, 2012
Jian-Qin Tao, Sandra R Bates
exaly  

Niemann–Pick type C 1 function requires lumenal domain residues that mediate cholesterol-dependent NPC2 binding

Proceedings of the National Academy of Sciences of the United States of America, 2011
Suzanne R Pfeffer
exaly  

[Niemann-Pick disease types A and B].

Nihon rinsho. Japanese journal of clinical medicine, 1996
The molecular basis of Niemann-Pick disease, type A and B, has been confirmed by detection of mutations causing deficiency of the acid sphingomyelinase activity in the patients. It has been shown that mutations, which cause no activity of acid sphingomyelinase, are responsible for the type A and mutations which cause residual activities of the enzyme ...
openaire   +1 more source

Biochemical studies in niemann-pick disease I. Major sphingolipids of liver and spleen

Lipids and Lipid Metabolism, 1983
Marie T Vanier
exaly  

The Effect of Polyphenols on Hypercholesterolemia through Inhibiting the Transport and Expression of Niemann–Pick C1-Like 1

International Journal of Molecular Sciences, 2019
Shoko Kobayashi
exaly  

Systematic review of psychiatric signs in Niemann-Pick disease type C

World Journal of Biological Psychiatry, 2019
Mark Walterfang, Olivier Bonnot
exaly