Palmitoyl protein thioesterase-1 deficiency impairs synaptic vesicle recycling at nerve terminals, contributing to neuropathology in humans and mice

Neuronal ceroid lipofuscinoses represent the most common childhood neurodegenerative storage disorders. Infantile neuronal ceroid lipofuscinosis (INCL) is caused by palmitoyl protein thioesterase-1 (PPT1) deficiency. Although INCL patients show signs of abnormal neurotransmission, manifested by myoc...

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Bibliografiska uppgifter
Huvudupphovsmän: Kim, Sung-Jo, Zhang, Zhongjian, Sarkar, Chinmoy, Tsai, Pei-Chih, Lee, Yi-Ching, Dye, Louis, Mukherjee, Anil B.
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2008
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC2515381/
https://ncbi.nlm.nih.gov/pubmed/18704195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI33482
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