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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Lyly, Annina, von Schantz, Carina, Salonen, Tarja, Kopra, Outi, Saarela, Jani, Jauhiainen, Matti, Kyttälä, Aija, Jalanko, Anu
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2007
Schlagworte:
Online Zugang: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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