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Duchenne muscular dystrophy (DMD) is an X-linked recessive disease caused by deleterious mutations in the DMD gene, rendering non-functional forms or complete absence of the protein dystrophin. Eccentric contraction-induced force loss is the most robust and reproducible phenotype of dystrophin-defic...
ORGANISM(S): Mus musculus (Mouse) 
2018-10-22 | PXD009680 | Pride
We used whole exome sequence to identify de novo mutations in patients with ocular coloboma. Three of these encoded actin pathway components, ACTG1, TWF1 and LCP1. Mass spectrometry-based interactomes of wild-type and mutant proteins were performed to reveal altered functional interactions for all...
ORGANISM(S): Homo sapiens (Human) 
2017-05-24 | PXD005090 | Pride
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