Results 1 to 10 of about 11,078,474 (189)

Regulation of Heart Rate in Drosophila via Fragile X Mental Retardation Protein.

PLoS ONE, 2015
RNA binding proteins play a pivotal role in post-transcriptional gene expression regulation, however little is understood about their role in cardiac function. The Fragile X (FraX) family of RNA binding proteins is most commonly studied in the context of
Stefanie Mares Novak, Archi Joardar, Carol C Gregorio, Daniela C Zarnescu   +3 more
doaj   +1 more source

Fragile X-Associated Neuropsychiatric Disorders (FXAND)

Frontiers in Psychiatry, 2018
Fragile X syndrome (FXS) is caused by the full mutation (>200 CGG repeats) in the Fragile X Mental Retardation 1 (FMR1) gene. It is the most common inherited cause of intellectual disability (ID) and autism.
Randi J. Hagerman, Randi J. Hagerman, Dragana Protic, Dragana Protic, Akash Rajaratnam, Akash Rajaratnam, Maria J. Salcedo-Arellano, Maria J. Salcedo-Arellano, Elber Yuksel Aydin, Elber Yuksel Aydin, Andrea Schneider, Andrea Schneider   +11 more
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FMRP regulates an ethanol-dependent shift in GABABR function and expression with rapid antidepressant properties

Nature Communications, 2016
Alcohol is thought to lead to neuroadaptive changes, although the underlying molecular mechanisms are unclear. Here, the authors find ethanol treatment alters GABAB-receptor expression via fragile-X mental retardation protein in mice, leading to ...
Sarah A. Wolfe, Emily R. Workman, Chelcie F. Heaney, Farr Niere, Sanjeev Namjoshi, Luisa P. Cacheaux, Sean P. Farris, Michael R. Drew, Boris V. Zemelman, R. Adron Harris, Kimberly F. Raab-Graham   +10 more
doaj   +1 more source

Modeling Fragile X Syndrome in Drosophila

Frontiers in Molecular Neuroscience, 2018
Intellectual disability (ID) and autism are hallmarks of Fragile X Syndrome (FXS), a hereditary neurodevelopmental disorder. The gene responsible for FXS is Fragile X Mental Retardation gene 1 (FMR1) encoding the Fragile X Mental Retardation Protein ...
Małgorzata Drozd, Małgorzata Drozd, Barbara Bardoni, Barbara Bardoni, Maria Capovilla, Maria Capovilla   +5 more
doaj   +1 more source

Generation of a FMR1 homozygous knockout human embryonic stem cell line (WAe009-A-16) by CRISPR/Cas9 editing

Stem Cell Research, 2019
Mutations in FMR1 gene is the cause of Fragile X Syndrome (FXS) leading inherited cause of intellectual disability and autism spectrum disorders. FMR1 gene encodes Fragile X Mental Retardation Protein (FMRP) which is a RNA binding protein and play ...
Subhajit Giri, Meera Purushottam, Biju Viswanath, Ravi S. Muddashetty   +3 more
doaj   +1 more source

FMR1: A Neurodevelopmental Factor Regulating Cell Metabolism in the Tumor Microenvironment

Biomolecules
The Fragile X Mental Retardation 1 (FMR1) gene is well-known for its role in Fragile X syndrome, a neurodevelopmental disorder, but emerging evidence suggests its involvement in regulating cellular metabolism, with implications for cancer biology.
Renbin Zhou, Hao Lin, Xinyu Dou, Bang Zeng, Xinyi Zhao, Lei Ma, Drissa Diarra, Bing Liu, Wei-Wei Deng, Tianfu Wu   +9 more
doaj   +1 more source

Cerebral Protein Synthesis in a Knockin Mouse Model of the Fragile X Premutation

ASN Neuro, 2014
The (CGG)n-repeat in the 5′-untranslated region of the fragile X mental retardation gene ( FMR1 ) gene is polymorphic and may become unstable on transmission to the next generation.
Mei Qin, Tianjian Huang, Zhonghua Liu, Michael Kader, Thomas Burlin, Zengyan Xia, Zachary Zeidler, Renate K. Hukema, Carolyn B. Smith   +8 more
doaj   +1 more source

Clinical, molecular, and pharmacological aspects of FMR1-related disorders

Neurología (English Edition), 2017
Background: Fragile X syndrome, the most common inherited cause of intellectual disability, is associated with a broad spectrum of disorders across different generations of a single family.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
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Aspectos clínicos, moleculares y farmacológicos en los trastornos asociados a gen 1 del retraso mental del X frágil

Neurología, 2017
Resumen: Introducción: El síndrome X frágil (SXF) es la causa más frecuente de discapacidad intelectual hereditaria y se asocia a un amplio espectro de enfermedades en las distintas generaciones de una misma familia.
A. Pugin, V. Faundes, L. Santa María, B. Curotto, S. Aliaga, I. Salas, P. Soto, P. Bravo, M.I. Peña, M.A. Alliende   +9 more
doaj   +1 more source

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Neurobiology of Disease, 2006
It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel the ...
Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy   +8 more
doaj   +1 more source