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The association of microcephaly protein WDR62 with CPAP/IFT88 is required for cilia formation and neocortical development

21 Nov 2019

Abstract excerpt

WDR62 mutations that result in protein loss, truncation or single amino-acid substitutions are causative for human microcephaly, indicating critical roles in cell expansion required for brain development. WDR62 missense mutations that retain protein expression represent partial loss-of-function mutants that may therefore provide specific insights into radial glial cell processes critical for brain growth. Here we...

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PMID: 31816041
DOI: 10.1093/hmg/ddz281

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