Article
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
Biochimica et biophysica acta - 1 Oct 2006
Kyttälä Aija, Lahtinen Ulla, Braulke Thomas, Hofmann Sandra L
Abstract excerpt
Neuronal ceroid lipofucinoses (NCLs) are a group of severe neurodegenerative disorders characterized by accumulation of autofluorescent ceroid lipopigment in patients' cells. The different forms of NCL share many similar pathological features but result from mutations in different genes. The genes affected in NCLs encode both soluble and transmembrane proteins and are localized to ER or to the...
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