scholarly journals Role of ACAT1-positive late endosomes in macrophages: Cholesterol metabolism and therapeutic applications for Niemann-Pick disease type C

2014 ◽  
Vol 61 (3.4) ◽  
pp. 270-277 ◽  
Author(s):  
Naomi Sakashita ◽  
XiaoFeng Lei ◽  
Masashi Kamikawa ◽  
Kazuchika Nishitsuji
Keyword(s):  
Cholesterol Metabolism ◽  
Disease Type ◽  
Therapeutic Applications ◽  
Niemann Pick Disease ◽  
Late Endosomes ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

A rare cause of fatal pulmonary alveolar proteinosis: Niemann-Pick disease type C2 and a novel mutation

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Ayhan Yaman ◽  
Fatma T. Eminoğlu ◽  
Tanıl Kendirli ◽  
Çağlar Ödek ◽  
Serdar Ceylaner ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disease Type ◽  
Neurological Dysfunction ◽  
Lipid Storage Disease ◽  
Niemann Pick Disease ◽  
Late Endosomes ◽  
Type C ◽  
Alveolar Proteinosis ◽  
Niemann Pick ◽  
Pick Disease

AbstractNiemann-Pick disease type C (NPC) is a fatal autosomal recessive lipid storage disease associated with impaired trafficking of unesterified cholesterol and glycolipids in lysosomes and late endosomes. This disease is commonly characterized by hepatosplenomegaly and severe progressive neurological dysfunction. There are two defective genes that cause this illness. One of these genes is

Niemann-Pick Disease Type C in Adulthood - A Psychiatric and Neurological Disorder

2010 ◽  
Vol 5 (1) ◽  
pp. 83
Author(s):  
Mark Walterfang ◽  
Dennis Velakoulis ◽  
◽  
Keyword(s):  
Human Subjects ◽  
Disease Type ◽  
Loss Of Function ◽  
Niemann Pick Disease ◽  
Late Endosomes ◽  
Type C ◽  
Niemann Pick ◽  
Lipid Storage Disorder ◽  
Progressive Disorder ◽  
Pick Disease

Niemann-Pick disease type C (NPC) is a rare neurovisceral lipid storage disorder resulting from autosomal recessively inherited loss-of-function mutations in eitherNpc1orNpc2. This disrupts intracellular lipid transport, leading to the accumulation of lipid products in the late endosomes and lysosomes. Affecting both children and adults, it exhibits a less rapid disease course in older patients, where it is characterised by slow cognitive decline, neuropsychiatric illness, ataxia and dystonia. As NPC is heterogeneous in presentation, it is often misdiagnosed as other movement or psychiatric disorders, highlighting the need for better awareness of this disease among clinicians. NPC is a progressive disorder and the only currently available disease-specific drug for its treatment is miglustat, which has shown positive outcomes in clinical studies. While other medications have been tested in animal models with encouraging results, they have yet to be trialled in human subjects.

Alterations in cholesterol metabolism in cultured fibroblasts from patients with Niemann-Pick disease type C

1987 ◽  
Vol 10 (4) ◽  
pp. 339-346 ◽  
Author(s):  
C. Mazière ◽  
J. C. Mazière ◽  
L. Mora ◽  
A. Lageron ◽  
C. Polonovski ◽  
...  
Keyword(s):  
Cholesterol Metabolism ◽  
Disease Type ◽  
Cultured Fibroblasts ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease

ANALYSIS OF CHOLESTEROL AND OXYSTEROL LEVELS IN NIEMANN PICK DISEASE TYPE C MICE AND PATIENTS

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
S Tay ◽  
X He ◽  
AM Jenner ◽  
BS Wong ◽  
WY Ong
Keyword(s):  
Disease Type ◽  
Niemann Pick Disease ◽  
Type C ◽  
Niemann Pick ◽  
Pick Disease
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