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- W2007433294 abstract "Dyggve–Melchior–Clausen syndrome and Smith-McCort dysplasia are recessive spondyloepimetaphyseal dysplasias caused by loss-of-function mutations in dymeclin ( Dym ), a gene with previously unknown function. Here we report that Dym -deficient mice display defects in endochondral bone formation similar to that of Dyggve–Melchior–Clausen syndrome and Smith-McCort dysplasia, demonstrating functional conservation between the two species. Dym -mutant cells display multiple defects in vesicle traffic, as evidenced by enhanced dispersal of Golgi markers in interphase cells, delayed Golgi reassembly after brefeldin A treatment, delayed retrograde traffic of an endoplasmic reticulum-targeted Shiga toxin B subunit, and altered furin trafficking; and the Dym protein associates with multiple cellular proteins involved in vesicular traffic. These results establish dymeclin as a novel protein involved in Golgi organization and intracellular vesicle traffic and clarify the molecular basis for chondrodysplasia in mice and men." @default.
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- W2007433294 date "2008-10-21" @default.
- W2007433294 modified "2023-09-25" @default.
- W2007433294 title "Dyggve–Melchior–Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic" @default.
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- W2007433294 doi "https://doi.org/10.1073/pnas.0804259105" @default.
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