Article
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
BMC cell biology - 12 Jun 2007
Lyly Annina, von Schantz Carina, Salonen Tarja, Kopra Outi, Saarela Jani, Jauhiainen Matti, Kyttälä Aija, Jalanko Anu
Abstract excerpt
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 lysosomal enzyme, palmitoyl protein thioesterase 1 (PPT1). The deficiency of PPT1 causes a specific death of neocortical...
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