Article

Deficiency of the lysosomal protein CLN5 alters lysosomal function and movement

2021-08-26

Abstract excerpt

Batten disease is a devastating childhood rare neurodegenerative disease characterized by rapid deterioration of cognition and movement, leading to death within ten to thirty years of age. One of the thirteen Batten disease forms, CLN5 Batten disease, is caused by mutations in the CLN5 gene leading to motor deficits, mental deterioration, cognitive impairment, visual impairment, and epileptic seizures in childre...

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Literature Corpus work: 85e43fac-d652-519c-877a-bc594fc592f5
DOI: 10.1101/2021.08.24.457390

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