Article
Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
Human molecular genetics - 1 Jun 1999
Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A
Abstract excerpt
Batten disease [juvenile-onset neuronal ceroid lipofuscinosis (JNCL)], the most common progressive encephalopathy of childhood, is caused by mutations in a novel lysosomal membrane protein (CLN3) with unknown function. In this study, we have confirmed the lysosomal localization of the CLN3 protein by immunoelectron microscopy by co-localizing it with soluble and membrane-associated lysosomal proteins. We have...
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