Article
A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1.
The Journal of clinical investigation - 17 Jul 2023
Korff Ane, Yang Xiaojing, O'Donovan Kevin, Gonzalez Abner, Teubner Brett Jw, Nakamura Haruko, Messing James, Yang Fen, Carisey Alexandre F, Wang Yong-Dong, Patni Tushar, Sheppard Heather, Zakharenko Stanislav S, Chook Yuh Min, Taylor J Paul, Kim Hong Joo
Abstract excerpt
Mutations in HNRNPH2 cause an X-linked neurodevelopmental disorder with features that include developmental delay, motor function deficits, and seizures. More than 90% of patients with hnRNPH2 have a missense mutation within or adjacent to the nuclear localization signal (NLS) of hnRNPH2. Here, we report that hnRNPH2 NLS mutations caused reduced interaction with the nuclear transport receptor Kapβ2 and resulted...
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