Article
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
Human molecular genetics - 15 Jan 2008
Kitzmüller Claudia, Haines Rebecca L, Codlin Sandra, Cutler Daniel F, Mole Sara E
Abstract excerpt
The neuronal ceroid lipofuscinoses (NCLs) are common neurodegenerative disorders of childhood and are classified as lysosomal storage diseases since affected cells exhibit lysosomes containing ceroid and lipofuscin-like material. CLN3 is the most widely conserved NCL gene, suggesting that it has a basic eukaryotic cell function; its loss might be expected to cause the earliest onset and/or most severe disease....
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