Udaiyappan Janakiraman
University of Arizona
Publications 1
Published on Jul 1, 2019in Neurobiology of Disease5.16
Udaiyappan Janakiraman (UA: University of Arizona), Jie Yu1
Estimated H-index: 1
(ZJNU: Zhejiang Chinese Medical University)
+ 6 AuthorsMark A. Nelson32
Estimated H-index: 32
(UA: University of Arizona)
Abstract TAF1/MRSX33 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 animal models are valuable tools for understanding neuronal patholog...