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Fragile X syndrome: causes, diagnosis, mechanisms, and therapeutics

Abstract:

Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and is also linked to other neurologic and psychiatric disorders. FXS is caused by a triplet expansion that inhibits expression of the FMR1 gene; the gene product, FMRP, regulates mRNA metabolism in the brain and thus controls the expression of key molecules involved in receptor signaling and spine morphology. While there is no definitive cure for FXS, the understanding of FMRP function has paved the way for rational treatment designs that could

Tópico:

Genetics and Neurodevelopmental Disorders

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Citations: 384
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Información de la Fuente:

FuenteThe Journal of clinical investigation
Cuartil año de publicaciónNo disponible
Volumen122
IssueNo disponible
Páginas4314 - 4322
pISSNNo disponible
ISSNNo disponible
Perfil OpenAlexNo disponible

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