Mouse models characterize GNAO1 encephalopathy as a neurodevelopmental disorder leading to motor anomalies: from a severe G203R to a milder C215Y mutation

GNAO1 encephalopathy characterized by a wide spectrum of neurological deficiencies in pediatric patients originates from de novo heterozygous mutations in the gene encoding Gαo, the major neuronal G protein. Efficient treatments and even the proper understanding of the underlying etiology are curren...

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Detalles Bibliográficos
Autores principales: Silachev, Denis, Koval, Alexey, Savitsky, Mikhail, Padmasola, Guru, Quairiaux, Charles, Thorel, Fabrizio, Katanaev, Vladimir L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8796625/
https://www.ncbi.nlm.nih.gov/pubmed/35090564
http://dx.doi.org/10.1186/s40478-022-01312-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8796625/
https://www.ncbi.nlm.nih.gov/pubmed/35090564
http://dx.doi.org/10.1186/s40478-022-01312-z

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