Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked <i>FMR1</i> Gene

Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked <i>FMR1</i> Gene

Fifty-five to two hundred CGG repeats (called a premutation, or PM) in the 5′-UTR of the <i>FMR1</i> gene are generally unstable, often expanding to a full mutation (>200) in one generation through maternal inheritance, leading to fragile X syndrome, a condition associated with autism...

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Bibliographic Details
Main Authors: Sarah L. Nolin, Eleonora Napoli, Amanda Flores, Randi J. Hagerman, Cecilia Giulivi
Format: Article
Language:English
Published: MDPI AG 2021-05-01
Series:International Journal of Molecular Sciences
Subjects:
amniotic fluid
premutation
CGG repeats
<i>FMR1</i>
metabolomics
proteomics
Online Access:https://www.mdpi.com/1422-0067/22/11/5886

Internet

https://www.mdpi.com/1422-0067/22/11/5886

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