Associated Papers
A translation re-initiation variant in KLHL24 also causes epidermolysis bullosa simplex and dilated cardiomyopathy via intermediate filament degradation.
Vermeer MCSC et al.
The British Journal of Dermatology, 2022
Gain-of-function mutation in ubiquitin-ligase KLHL24 causes desmin degradation and dilatation in hiPSC-derived engineered heart tissues.
Vermeer MC et al.
The Journal of Clinical Investigation, 2021
Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility.
Lin Z et al.
Nature Genetics, 2016
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