Article

<i>TAF1</i> -gene editing impairs Purkinje cell morphology and function

2019-02-09

Abstract excerpt

TAF1 intellectual disability syndrome is an X-linked disorder caused by loss-of-function mutations in the TAF1 gene. How these mutations cause dysmorphology, hypotonia, intellectual and motor defects is unknown. Mouse models which have embryonically targeted TAF1 have failed, possibly due to TAF1 being essential for viability, preferentially expressed in early brain development, and intolerant of mutation. Novel a...

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Literature Corpus work: 3cc22a27-905a-5baf-8cf2-7011ef4b006c
DOI: 10.1101/545491

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