De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with ...

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Concepts for whichthey havehas direct influence:Novo mutations,Static encephalopathy,Autophagy gene,Childhood neurodegeneration,Neurodegeneration adulthood,Static encephalopathy childhood,Autophagy protein,Gene wdr45.

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De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

Abstract

Hirotomo Saitsu, Noboru Mizushima, Naomichi Matsumoto and colleagues report the identification of de novo mutations in WDR45 that cause static encephalopathy of childhood with neurodegeneration in adulthood. WDR45 encodes a homolog of the yeast autophagy protein Atg18.

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