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Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of <i>HNRNPU</i> haploinsufficiency

2020-05-01

Abstract excerpt

Heterozygous de novo loss-of-function mutations in the gene expression regulator HNRNPU cause an early-onset developmental and epileptic encephalopathy. To gain insight into pathological mechanisms and lay the potential groundwork for developing targeted therapies, we characterized the neurophysiologic and cell-type-specific transcriptomic consequences of a mouse model of HNRNPU haploinsufficiency. Heterozygous...

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Literature Corpus work
e5f1493b-5724-59f9-a829-b81a5e7c1c39
DOI
10.1101/2020.05.01.072512
Open publication

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Neurodevelopmental deficits and cell-type-specific transcriptomic perturbations in a mouse model of <i>HNRNPU</i> haploinsufficiencyDOI 10.1101/2020.05.01.072512
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