Article
NCL disease mechanisms.
Biochimica et biophysica acta - 1 Nov 2013
Palmer David N, Barry Lucy A, Tyynelä Jaana, Cooper Jonathan D
Abstract excerpt
Despite the identification of a large number of disease-causing genes in recent years, it is still unclear what disease mechanisms operate in the neuronal ceroid lipofuscinoses (NCLs, Batten disease). As a group they are defined by the specific accumulation of protein, either subunit c of mitochondrial ATP synthase or SAPs A and D in lysosome-derived organelles, and regionally specific neurodegeneration. Evidence...
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