Cargando…
Deficits in Prenatal Serine Biosynthesis Underlie the Mitochondrial Dysfunction Associated with the Autism-Linked FMR1 Gene
Fifty-five to two hundred CGG repeats (called a premutation, or PM) in the 5′-UTR of the FMR1 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 and other intellec...
Autores principales: | Nolin, Sarah L., Napoli, Eleonora, Flores, Amanda, Hagerman, Randi J., Giulivi, Cecilia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8198117/ https://www.ncbi.nlm.nih.gov/pubmed/34070950 http://dx.doi.org/10.3390/ijms22115886 |
Ejemplares similares
-
Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
por: Giulivi, Cecilia, et al.
Publicado: (2016) -
Impact of FMR1 Premutation on Neurobehavior and Bioenergetics in Young Monozygotic Twins
por: Napoli, Eleonora, et al.
Publicado: (2018) -
Characterization of the Metabolic, Clinical and Neuropsychological Phenotype of Female Carriers of the Premutation in the X-Linked FMR1 Gene
por: Napoli, Eleonora, et al.
Publicado: (2020) -
Brain Atrophy and White Matter Damage Linked to Peripheral Bioenergetic Deficits in the Neurodegenerative Disease FXTAS
por: Wang, Junyi, et al.
Publicado: (2021) -
Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding
por: Napoli, Eleonora, et al.
Publicado: (2016)