Article
Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.
Human molecular genetics - 1 Mar 2010
Vitiello Seasson Phillips, Benedict Jared W, Padilla-Lopez Sergio, Pearce David A
Abstract excerpt
Juvenile Batten disease is an autosomal recessive pediatric neurodegenerative disorder caused by mutations in the CLN3 gene. The CLN3 protein primarily resides in the lysosomal membrane, but its function is unknown. We demonstrate that CLN3 interacts with SBDS, the protein mutated in Shwachman-Bodian-Diamond syndrome patients. We demonstrate that this protein-protein interaction is conserved between Btn1p and...
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