Premutation in the Fragile X Mental Retardation 1 (FMR1) Gene Affects Maternal Zn-milk and Perinatal Brain Bioenergetics and Scaffolding. [PDF]
, 2016 Fragile X premutation alleles have 55-200 CGG repeats in the 5' UTR of the FMR1 gene. Altered zinc (Zn) homeostasis has been reported in fibroblasts from >60 years old premutation carriers, in which Zn supplementation significantly restored Zn ...
Gane, Louise W +8 more
core +6 more sources
Impaired Dendritic Expression and Plasticity Of H-Channels in the fmr1(-/Y) Mouse Model of Fragile X Syndrome [PDF]
, 2012 Despite extensive research into both synaptic and morphological changes, surprisingly little is known about dendritic function in fragile X syndrome (FXS).
Akhavan, Arvin R. +2 more
core +2 more sources
Frontiers in Endocrinology, 2023 IntroductionMutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene cause Fragile X Syndrome, the most common monogenic cause of intellectual disability.
Pedro A. Villa +5 more
doaj +1 more source
The Application of Clinical Genetics, 2021 César Payán-Gómez,1 Julian Ramirez-Cheyne,2,3 Wilmar Saldarriaga2,3 1Deparment of Biology, Faculty of Natural Sciences, Universidad del Rosario, Bogotá, Colombia; 2Health Faculty, Universidad del Valle, Cali, Colombia; 3Hospital Universitario del Valle ...
Payán-Gómez C +2 more
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Histone deacetylases suppress CGG repeat-induced neurodegeneration via transcriptional silencing in models of fragile X tremor ataxia syndrome. [PDF]
PLoS Genetics, 2010 Fragile X Tremor Ataxia Syndrome (FXTAS) is a common inherited neurodegenerative disorder caused by expansion of a CGG trinucleotide repeat in the 5'UTR of the fragile X syndrome (FXS) gene, FMR1.
Peter K Todd +7 more
doaj +1 more source
Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]
, 2020 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel +8 more
core +2 more sources
Cell Death and Disease, 2022 FMR1, a new m6A reader, is known to be involved in the regulation of cancer progression. However, its role, regulatory mechanism, and clinical significance in colorectal cancer (CRC) are elusive.
Yuhan Hu +12 more
doaj +1 more source
Premature recruitment of oocyte pool and increased mTOR activity in Fmr1 knockout mice and reversal of phenotype with rapamycin. [PDF]
, 2018 While mutations in the fragile X mental retardation-1 (FMR1) gene are associated with varying reproductive outcomes in females, the effects of a complete lack of FMR1 expression are not known.
Ascano, M +5 more
core +2 more sources
Language dysfluencies in females with the FMR1 premutation [PDF]
Brain and Cognition, 2013 Recent evidence suggests that there are age-related neurocognitive implications for fragile X premutation carriers, including deficits in executive function, and that such deficits are more common in male than female premutation carriers. The purpose of the current study is to examine one aspect of executive function, language dysfluencies, in a group ...
Marsha R. Mailick +4 more
openaire +3 more sources
Fragile X Premutation: Medications, Therapy and Lifestyle Advice
Pharmacogenomics and Personalized Medicine, 2021 Deepika Kour Sodhi,1 Randi Hagerman1,2 1The MIND Institute, University of California Davis Health, Sacramento, CA, USA; 2Department of Pediatrics, University of California Davis Health, Sacramento, CA, USACorrespondence: Randi HagermanUC Davis MIND ...
Sodhi DK, Hagerman R
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