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Article

Hypomyelination and developmental delay associated with <i>VPS11</i> mutation in Ashkenazi-Jewish patients

25 Aug 2015

Abstract excerpt

BACKGROUND: The genetic heterogeneity of developmental delay and cognitive impairment is vast. The endocytic network is essential for neural development and synaptic plasticity by regulating the sorting of numerous transmembrane proteins. Disruption of the pathway can lead to neuronal pathology. Endosomal biogenesis relies on two Rab proteins, Rab5 and Rab7, which bind to two hexameric tethering complexes, the...

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PMID: 26307567
DOI: 10.1136/jmedgenet-2015-103239

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