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Niemann Pick Type C disease (NPC) is a fatal, autosomal recessive neurodegenerative disease due to mutations in the NPC1 or NPC2 genes [1], [2].
Genetic studies have implicated the NPC1 gene (Niemann Pick type C1) in susceptibility to obesity.
Spinal muscular atrophy (SMA) and Niemann Pick type C (NPC) are two such examples.
Studies of these stem cells and their relationship to Niemann pick type C disease will provide new biomarkers for early diagnosis as well as a potential cure by use of targeted therapeutics for Niemann pick type C disease.
One study with a Niemann Pick type C mouse model showed that collagen deposition was consistent with the observed elevation in MT ratio.
We reported that NPC 1 gene deficiency could lead to lack of the self renewal ability of neural stem cells in Niemann pick type C disease.
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These changes are likely contributors to the pathophysiology of Niemann-Pick Type C disease.
Jonas O. Ceroid storage in a child with a Niemann-Pick type syndrome.
Defective mitophagy in human Niemann-Pick type C1 neurons is due to abnormal autophagy activation.
Impaired proteolysis underlies autophagic dysfunction in Niemann-Pick type C disease.
This extension in turn provides solutions to Nevanlinna-Pick type interpolation problems in the polydisk, with control of the BMOr norm.
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