Article

Synapse specific alterations of autophagy are a hallmark of Danon disease

2026-04-15

Abstract excerpt

<h4>ABSTRACT</h4> Danon disease is a rare disorder caused by mutations in the LAMP2 gene, which encodes a lysosomal membrane protein key to the endolysosomal pathway and autophagy. Affected individuals show multisystemic alterations that include cardiomyopathy, skeletal muscle weakness, visual deficits and cognitive impairment. Here we establish a knockout LAMP2 line in Xenopus tropicalis that reproduces the c...

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Literature Corpus work: 1ee23686-fc19-5c6b-be68-d20945eb5867
DOI: 10.64898/2026.04.14.718098

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