Associated Papers
Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement.
Gangfuß A et al.
The Journal of Pathology, 2022
Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.
Courtland JL et al.
Elife, 2021
Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.
Assoum M et al.
American Journal of Medical Genetics. Part A, 2020
Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo.
Kustermann M et al.
Autophagy, 2018
Genetics of recessive cognitive disorders.
Musante L et al.
Trends in Genetics : Tig, 2014
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.
Ropers F et al.
Human Molecular Genetics, 2011
WASP family proteins: Molecular mechanisms and implications in human disease.
Kramer DA et al.
European Journal of Cell Biology, 0
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