Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches
نویسندگان
چکیده
منابع مشابه
Niemann-Pick type C disease.
A 4-year-old Afghan girl born to consanguineous parents presented with progressive neurological regression and hepatomegaly noticed after one year of age. The child had hypotonia, repeated unexplained falls and facial dyskinesia. Bone marrow examination revealed presence of storage cells suggestive of Gauchers or Niemann Pick. Confirmatory study by lysosomal enzyme from leucocytes was normal fo...
متن کامل[Niemann-Pick disease (type C)].
A 15-year old girl with slowly progressive gait and speech disorders, and with impairment of mental ability, is decsribed. The disease appeared 18 months before the first hospitalization at the Department of Neurology and Physchiatry for Children and Young People. Neurological and other examinations confirmed extrapyramidal and cerebellar signs, conspisuous knee and ankle reflexes, marked splen...
متن کاملNiemann-Pick disease type C
Niemann-Pick disease type C (NPC) is an autosomal recessive neurovisceral lipid storage with a wide spectrum of clinical phenotypes. At the cellular level, the disorder is characterized by accumulation of unesterified cholesterol and glycolipids in the lysosomal/late endosomal system. Approximatively 95% of patients have mutations in the NPC1 gene (mapped at 18q11) which encodes a large membran...
متن کاملTherapeutic potential of cyclodextrins in the treatment of Niemann-Pick type C disease.
Niemann-Pick type C (NPC) disease is an autosomal recessive neurovisceral lipid and storage disorder characterized by abnormal sequestration of unesterified cholesterol within the late endosomal/lysosomal compartment of all cells in the body. This disease primarily affects children and is characterized by hepatic and pulmonary dysfunction, neurodegeneration and death at an early age. Currently,...
متن کاملMitochondrial GSH replenishment as a potential therapeutic approach for Niemann Pick type C disease
Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While the primary biochemical feature of NPC disease is the intracellular accumulation of cholesterol and gangliosides, predominantly in endolysosomes, mitochondrial cholesterol accu...
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ژورنال
عنوان ژورنال: Journal of Neurochemistry
سال: 2011
ISSN: 0022-3042
DOI: 10.1111/j.1471-4159.2010.06976.x