Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c

Loss-of-function mutations of FIG4 are responsible for neurological disorders in human and mouse that result from reduced abundance of the signaling lipid PI(3,5)P(2). In contrast, loss-of-function mutations of the phosphoinositide kinase PIP4K2C result in elevated abundance of PI(3,5)P(2.) These op...

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Detalles Bibliográficos
Autores principales: Cao, Xu, Lenk, Guy M, Meisler, Miriam H
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Genetic Models of Rare Diseases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411592/
https://www.ncbi.nlm.nih.gov/pubmed/36691351
http://dx.doi.org/10.1093/g3journal/jkad007

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10411592/
https://www.ncbi.nlm.nih.gov/pubmed/36691351
http://dx.doi.org/10.1093/g3journal/jkad007

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