TRPC6 G757D loss-of-function mutation associates with FSGS

M Riehle, AK Büscher, BO Gohlke… - Journal of the …, 2016 - journals.lww.com
FSGS is a CKD with heavy proteinuria that eventually progresses to ESRD. Hereditary forms
of FSGS have been linked to mutations in the transient receptor potential cation channel,
subfamily C, member 6 (TRPC6) gene encoding a nonselective cation channel. Most of
these TRPC6 mutations cause a gain-of-function phenotype, leading to calcium–triggered
podocyte cell death, but the underlying molecular mechanisms are unclear. We studied the
molecular effect of disease-related mutations using tridimensional in silico modeling of …
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