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A haploinsufficiency restoration strategy corrects neurobehavioral deficits in Nf1+/– mice

Neurofibromatosis type 1 (NF1) is a genetic disorder caused by mutations of the NF1 tumor suppressor gene resulting in the loss of function of neurofibromin, a GTPase-activating protein (GAP) for Ras. While the malignant manifestations of NF1 are associated with loss of heterozygosity of the residua...

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Principais autores: Su Jung Park, Jodi L. Lukkes, Ka-Kui Chan, Hayley P. Drozd, Callie B. Burgin, Shaomin Qian, Morgan McKenzie Sullivan, Cesar Gabriel Guevara, Nolen Cunningham, Stephanie Arenas, Makenna A. Collins, Jacob Zucker, JinHee Won, Abbi Smith, Li Jiang, Dana K. Mitchell, Steven D. Rhodes, Steven P. Angus, D. Wade Clapp
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2025-07-01
coleção:The Journal of Clinical Investigation
Assuntos:
Genetics
Neuroscience
Acesso em linha:https://doi.org/10.1172/JCI188932
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