GOLGA2, Encoding A Master Regulator of Golgi Apparatus, Is Mutated in A Patient with A Neuromuscular Disorder

Golgi apparatus (GA) is a membrane-bound organelle that serves a multitude of critical cellular functions including protein secretion and sorting, and cellular polarity. Many Mendelian diseases are caused by mutations in genes encoding various components of GA. GOLGA2 encodes GM130, a necessary comp...

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Vydáno v:Hum Genet
Hlavní autoři: Shamseldin, Hanan E, Bennett, Alexis H, Alfadhel, Majid, Gupta, Vandana, Alkuraya, Fowzan S
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4975006/
https://ncbi.nlm.nih.gov/pubmed/26742501
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-015-1632-8
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