Article
DPY-17 and MUA-3 Interact for Connective Tissue-Like Tissue Integrity in Caenorhabditis elegans: A Model for Marfan Syndrome.
G3 (Bethesda, Md.) - 27 Apr 2015
Fotopoulos Pauline, Kim Jeongho, Hyun Moonjung, Qamari Waiss, Lee Inhwan, You Young-Jai
Abstract excerpt
mua-3 is a Caenorhabditis elegans homolog of the mammalian fibrillin1, a monogenic cause of Marfan syndrome. We identified a new mutation of mua-3 that carries an in-frame deletion of 131 amino acids in the extracellular domain, which allows the mutants to survive in a temperature-dependent manner; at the permissive temperature, the mutants grow normally without obvious phenotypes, but at the nonpermissive...
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