Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1) – distinct characteristics in neurons

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are collectively the most common type of recessively inherited childhood encephalopathies. The most severe form of NCL, infantile neuronal ceroid lipofuscinosis (INCL), is caused by mutations in the CLN1 gene, resulting in a deficiency of the lysosom...

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Hlavní autoři: Lyly, Annina, von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, Kyttälä, Aija, Jalanko, Anu
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2007
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1906764/
https://ncbi.nlm.nih.gov/pubmed/17565660
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2121-8-22
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