Article
Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3.
Molecular biology of the cell - 1 Jul 2002
Vesa Jouni, Chin Mark H, Oelgeschläger Kathrin, Isosomppi Juha, DellAngelica Esteban C, Jalanko Anu, Peltonen Leena
Abstract excerpt
Neuronal ceroid lipofuscinoses (NCLs) are neurodegenerative storage diseases characterized by mental retardation, visual failure, and brain atrophy as well as accumulation of storage material in multiple cell types. The diseases are caused by mutations in the ubiquitously expressed genes, of which six are known. Herein, we report that three NCL disease forms with similar tissue pathology are connected at the...
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