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FXS is caused by a mutation in FMR1, a gene which modulates a number of systems, including the endocannabinoid system, and most critically, codes for a protein called FMRP. The FMR1 mutation ...
Quralis Corp. has entered into a number of agreements with the aim of advancing the treatment of fragile X syndrome, a genetic condition caused by a mutation of a single gene – fragile X messenger ...
In order to investigate the stability of the FMR1 (Fragile X Mental Retardation 1) alleles from the normal population, when maternally inherited, we analyzed 75 mother-to-son transmissions.
FMR1 enhances translation of large neural/oocyte proteinsMutations in the highly conserved Fragile X mental retardation gene (Fmr1) cause the most common inherited human intellectual disability/autism ...
Molecular studies of the FMR1 gene in all cases showed the typical full mutation as seen in males affected by the fragile X syndrome. Endocrine studies were unremarkable, except in one case where ...
Mutations in FMR1 are the most common heritable cause of autism spectrum disorder. FMR1 encodes an RNA-binding protein, FMRP, which binds to long, autism-relevant transcripts and is essential for ...
In this valuable study, Tutak and colleagues set out to identify factors that mediate Repeat Associated Non-AUG (RAN) translation of CGG repeats in the FMR1 mRNA which are implicated in toxic protein ...
One of the disorders it is keen on targeting is fragile X syndrome. It arises from a mutation in the FMR1 gene present on the X chromosome and causes neurodevelopmental delay and several neurological ...
Autism spectrum disorders are a group of neurodevelopmental disorders that are characterized by impaired social interaction and communication skills, and are often accompanied by other behavioural ...
Introduction: Alzheimer's disease (AD) and Parkinson's disease (PD) are neurodegenerative disorders characterized by mitochondrial dysfunction and chronic inflammation. The transcription factor NF-κB1 ...
Behavioral, neurotransmitter and transcriptomic analyses in male and female Fmr1 KO mice in Motivation and Reward Deirdre M. McCarthy Cynthia Vied Mia X. Trupiano Angeli J. Canekeratne Yuan Wang ...
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