X-linked microtubule-associated protein, Mid1, regulates axon development

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X-linked microtubule-associated protein, Mid1, regulates axon development.

Opitz syndrome (OS) is a genetic neurological disorder. The gene responsible for the X-linked form of OS, Midline-1 (MID1), encodes an E3 ubiquitin ligase that regulates the degradation of the catalytic subunit of protein phosphatase 2A (PP2Ac). However, how Mid1 functions during neural development is largely unknown. In this study, we provide data from in vitro and in vivo experiments suggesti...

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Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.

BACKGROUND Opitz syndrome (OS) is a genetic disorder that affects mainly the development of midline structures, including the craniofacial region, embryonic heart, and urogenital system. The manifestations of X-linked OS are believed to be results of a malfunctioned gene, MID1, whose product has been shown to have ubiquitin E3 ligase activity and regulate the turnover of microtubular protein ph...

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ژورنال

عنوان ژورنال: Proceedings of the National Academy of Sciences

سال: 2013

ISSN: 0027-8424,1091-6490

DOI: 10.1073/pnas.1303687110