Article
Decreased sensitivity of palmitoyl protein thioesterase 1-deficient neurons to chemical anoxia.
Metabolic brain disease - 1 Feb 2017
Meyer Meredith, Kovács Attila D, Pearce David A
Abstract excerpt
Infantile CLN1 disease, also known as infantile neuronal ceroid lipofuscinosis, is a fatal childhood neurodegenerative disorder caused by mutations in the CLN1 gene. CLN1 encodes a soluble lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1), and it is still unclear why neurons are selectively vulnerable to the loss of PPT1 enzyme activity in infantile CLN1 disease. To examine the effects of PPT1 deficiency...
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