نتایج جستجو برای: merzbacher

تعداد نتایج: 317  

2016
Ricardo H. Roda Edmond J. FitzGibbon Houda Boucekkine Alice B. Schindler Craig Blackstone

The MAG gene encodes myelin-associated glycoprotein (MAG), an abundant protein involved in axon-glial interactions and myelination during nerve regeneration. Several members of a consanguineous family with a clinical syndrome reminiscent of Pelizaeus-Merzbacher disease and demyelinating leukodystrophy on brain MRI were recently found to harbor a homozygous missense p.Ser133Arg MAG mutation. Her...

2015
Hong-yan Xie Yu Cui Fang Deng Jia-chun Feng

Connexin subunits are proteins that form gap junction channels, and play an important role in communication between adjacent cells. This review article discusses the function of connexins/hemichannels/gap junctions under physiological conditions, and summarizes the findings regarding the role of connexins/hemichannels/gap junctions in the physiological and pathological mechanisms underlying cen...

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