Results 31 to 40 of about 8,261 (127)

Gene therapy using human FMRP isoforms driven by the human FMR1 promoter rescues fragile X syndrome mouse deficits

Molecular Therapy: Methods & Clinical Development, 2022
Fragile X syndrome (FXS) is caused by the loss of the fragile X messenger ribonucleoprotein 1 (FMRP) encoded by the FMR1 gene. Gene therapy using adeno-associated virus (AAV) to restore FMRP expression is a promising therapeutic strategy. However, so far
Yiru Jiang, Linkun Han, Jian Meng, Zijie Wang, Yunqiang Zhou, Huilong Yuan, Hui Xu, Xian Zhang, Yingjun Zhao, Jinsheng Lu, Huaxi Xu, Chen Zhang, Yun-wu Zhang   +12 more
doaj   +1 more source

FMR1 Disorders: Basics of Biology and Therapeutics in Development

Cells
Fragile X Syndrome (FXS) presents with a constellation of phenotypes, including trouble regulating emotion and aggressive behaviors, disordered sleep, intellectual impairments, and atypical physical development. Genetic study of the X chromosome revealed
Drew A. Gillett, Helene Tigro, Yuan Wang, Zucai Suo   +3 more
doaj   +1 more source

Rescue of sharp wave-ripples and prevention of network hyperexcitability in the ventral but not the dorsal hippocampus of a rat model of fragile X syndrome

Frontiers in Cellular Neuroscience, 2023
Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by intellectual disability and is related to autism. FXS is caused by mutations of the fragile X messenger ribonucleoprotein 1 gene (Fmr1) and is associated with alterations ...
Leonidas J. Leontiadis, George Trompoukis, Giota Tsotsokou, Athina Miliou, Panagiotis Felemegkas, Costas Papatheodoropoulos   +5 more
doaj   +1 more source

Proteomics insights into fragile X syndrome: Unraveling molecular mechanisms and therapeutic avenues

Neurobiology of Disease
Fragile X Syndrome (FXS) is a neurodevelopment disorder characterized by cognitive impairment, behavioral challenges, and synaptic abnormalities, with a genetic basis linked to a mutation in the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene that ...
Diana A. Abbasi, Elizabeth Berry-Kravis, Xinyu Zhao, Stephanie M. Cologna   +3 more
doaj   +1 more source

From Discovery to Innovative Translational Approaches in 80 Years of Fragile X Syndrome Research

Biomedicines
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and a major genetic contributor to autism spectrum disorder. It is caused by a CGG trinucleotide repeat expansion in the FMR1 gene, resulting in gene silencing and the
Mathijs B. van der Lei, R. Frank Kooy
doaj   +1 more source

Fmrp regulates neuronal balance in embryonic motor circuit formation

Frontiers in Neuroscience, 2022
Motor behavior requires the balanced production and integration of a variety of neural cell types. Motor neurons are positioned in discrete locations in the spinal cord, targeting specific muscles to drive locomotive contractions.
Chase M. Barker, Kaleb D. Miles, Kaleb D. Miles, Caleb A. Doll   +3 more
doaj   +1 more source

From wings to whiskers to stem cells: why every model matters in fragile X syndrome research

Journal of Neurodevelopmental Disorders
Fragile X syndrome (FXS) is caused by epigenetic silencing of the X-linked fragile X messenger ribonucleoprotein 1 (FMR1) gene located on chromosome Xq27.3, which leads to the loss of its protein product, fragile X messenger ribonucleoprotein (FMRP).
Soraya O. Sandoval, Natasha M. Méndez-Albelo, Zhiyan Xu, Xinyu Zhao   +3 more
doaj   +1 more source

High performing male with fragile X syndrome with an unmethylated FMR1 full mutation: The relevance of clinical and genetic correlations

Clinical Case Reports, 2023
Key Clinical Message A high performing male with an unmethylated full mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene surpassed our expectations into young adulthood.
Meg Shieh, Keren Amkraut, Gail A. Spiridigliozzi, Tatyana Adayev, Kaylea Nicholson, Allyn McConkie‐Rosell, Marie McDonald, Malinda Pennington, Siby Sebastian, Ave M. Lachiewicz   +9 more
doaj   +1 more source

Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome

Brain Sciences, 2022
The premutation expansion of the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene on the X chromosome has been linked to a range of clinical and subclinical features.
Darren R. Hocking, Danuta Z. Loesch, Paige Stimpson, Flora Tassone, Anna Atkinson, Elsdon Storey   +5 more
doaj   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source