A murine model of hnRNPH2-related neurodevelopmental disorder reveals a mechanism for genetic compensation by Hnrnph1

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 r...

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Detalles Bibliográficos
Autores principales: Korff, Ane, Yang, Xiaojing, O’Donovan, Kevin, Gonzalez, Abner, Teubner, Brett J.W., 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10348767/
https://www.ncbi.nlm.nih.gov/pubmed/37463454
http://dx.doi.org/10.1172/JCI160309

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