Warburg effect linked to cognitive‐executive deficits in FMR1 premutation
نویسندگان
چکیده
منابع مشابه
Fibroblast phenotype in male carriers of FMR1 premutation alleles.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an adult-onset neurodegenerative disorder among carriers of premutation expansions (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. The clinical features of FXTAS, as well as various forms of clinical involvement in carriers without FXTAS, are thought to arise through a direct toxic gain of function of high levels of ...
متن کاملMaternal FMR1 premutation allele expansion and contraction in fraternal twins.
Fragile X syndrome results from an expansion of the CGG trinucleotide repeat in the 5' untranslated region of the Fragile X Mental Retardation 1 (FMR1) gene. Expansion of a maternal premutation allele is the mechanism by which a full mutation allele arises; contraction of a maternal premutation allele is rare. Here we report on both an expansion and contraction of a maternal FMR1 premutation al...
متن کاملPlasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers
Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder Fragile X-associated tremor ataxia syndrome (FXTAS). Limited efforts have been made to develop new methods for improved early patient monitoring, ...
متن کاملAge-related functional brain changes in FMR1 premutation carriers
The FMR1 premutation confers a 40-60% risk for males of developing a neurodegenerative disease called the Fragile X-associated Tremor Ataxia Syndrome (FXTAS). FXTAS is a late-onset disease that primarily involves progressive symptoms of tremor and ataxia, as well as cognitive decline that can develop into dementia in some patients. At present, it is not clear whether changes to brain function a...
متن کاملExpanded clinical phenotype of women with the FMR1 premutation.
Fragile X-associated tremor/ataxia syndrome (FXTAS) is generally considered to be uncommon in older female carriers of premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene; however, neither prevalence, nor the nature of the clinical phenotype, has been well characterized in female carriers. In this study, we evaluated 146 female carriers (mean, 42.3 years; ...
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ژورنال
عنوان ژورنال: The FASEB Journal
سال: 2016
ISSN: 0892-6638,1530-6860
DOI: 10.1096/fj.201600315r