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Article

TRPML1 activation ameliorates lysosomal phenotypes in CLN3 deficient retinal pigment epithelial cells.

Scientific reports - 29 Jul 2024

Wünkhaus D, Tang R, Nyame K, Laqtom N N, Schweizer M, Scotto Rosato A, Krogsæter E K, Wollnik C, Abu-Remaileh M, Grimm C, Hermey G, Kuhn R, Gruber-Schoffnegger D, Markmann S

Abstract excerpt

Mutations in the lysosomal membrane protein CLN3 cause Juvenile Neuronal Ceroid Lipofuscinosis (JNCL). Activation of the lysosomal ion channel TRPML1 has previously been shown to be beneficial in several neurodegenerative disease models. Here, we tested whether TRPML1 activation rescues disease-associated phenotypes in CLN3-deficient retinal pigment epithelial (ARPE-19 CLN3-KO) cells. ARPE-19 CLN3-KO cells...

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Identifiers

PMID: 39080379
DOI: 10.1038/s41598-024-67479-8
PMCID: PMC11289453

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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