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Article

An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.

Cellular and molecular life sciences : CMLS - 24 Aug 2023

Batool Lilas, Hariharan Krithika, Xu Yao, Kaßmann Mario, Tsvetkov Dmitry, Gohlke Björn-Oliver, Kaden Sylvia, Gossen Manfred, Nürnberg Bernd, Kurtz Andreas, Gollasch Maik

Abstract excerpt

Transient receptor potential cation channel-6 (TRPC6) gene mutations cause familial focal segmental glomerulosclerosis (FSGS), which is inherited as an autosomal dominant disease. In patients with TRPC6-related FSGS, all mutations map to the N- or C-terminal TRPC6 protein domains. Thus far, the majority of TRPC6 mutations are missense resulting in increased or decreased calcium influx; however, the fundamental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37615749
DOI: 10.1007/s00018-023-04901-w
PMCID: PMC10449997

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