Results 31 to 40 of about 19,643 (207)

miRNA expression and interaction with the 3′UTR of FMR1 in FRAXopathy pathogenesis

Non-coding RNA Research, 2021
FRAXopathies are caused by the expansion of the CGG repeat in the 5′UTR of the FMR1 gene, which encodes the protein responsible for the synthesis of FMRP.
Alexander A. Dolskiy, Andrey A. Yarushkin, Irina V. Grishchenko, Natalya A. Lemskaya, Alexey V. Pindyurin, Lidiya V. Boldyreva, Vladimir O. Pustylnyak, Dmitry V. Yudkin   +7 more
doaj   +1 more source

Missense mutation of Fmr1 results in impaired AMPAR-mediated plasticity and socio-cognitive deficits in mice

Nature Communications, 2021
Fragile X syndrome (FXS) is the most frequent form of inherited intellectual disability and the best-described monogenic cause of autism. CGG-repeat expansion in the FMR1 gene leads to FMR1 silencing, loss-of-expression of the Fragile X Mental ...
M. Prieto, A. Folci, Gwénola Poupon, S. Schiavi, V. Buzzelli, M. Pronot, Urielle François, Paula A. Pousinha, N. Lattuada, Sophie Abélanet, S. Castagnola, Magda Chafai, Anouar Khayachi, C. Gwizdek, F. Brau, E. Deval, M. Francolini, B. Bardoni, Y. Humeau, V. Trezza, Stéphane Martin   +20 more
semanticscholar   +1 more source

Increased body weight in mice with fragile X messenger ribonucleoprotein 1 (Fmr1) gene mutation is associated with hypothalamic dysfunction

Scientific Reports, 2023
Mutations in the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene are linked to Fragile X Syndrome, the most common monogenic cause of intellectual disability and autism. People affected with mutations in FMR1 have higher incidence of obesity, but the
Rebecca E. Ruggiero-Ruff, Pedro A. Villa, Sarah Abu Hijleh, Bryant Avalos, Nicholas V. DiPatrizio, Sachiko Haga-Yamanaka, Djurdjica Coss   +6 more
doaj   +1 more source

Altered expression of fragile X mental retardation-1 (FMR1) in the thymus in autoimmune myasthenia gravis

Journal of Neuroinflammation, 2021
Predisposition to autoimmunity and inflammatory disorders is observed in patients with fragile X-associated syndromes. These patients have increased numbers of CGG triplets in the 5’ UTR region of FMR1 (Fragile X Mental Retardation 1) gene, that affects ...
Scott Thomas, Odessa-Maud Fayet, Frédérique Truffault, Elie Fadel, Bastien Provost, Abderaouf Hamza, Sonia Berrih-Aknin, Jean-Paul Bonnefont, Rozen Le Panse   +8 more
doaj   +1 more source

Altered GnRH neuron and ovarian innervation characterize reproductive dysfunction linked to the Fragile X messenger ribonucleoprotein (Fmr1) gene mutation

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, Nancy M. Lainez, Carrie R. Jonak, Sarah C. Berlin, Iryna M. Ethell, Djurdjica Coss   +5 more
doaj   +1 more source

A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments

Brain Science, 2020
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene, which encodes a protein with a critical role in synaptic plasticity. The molecular abnormality underlying FMR1 silencing, CGG repeat expansion, is well characterized; however, delineation ...
D. Budimirovic, Annette M. Schlageter, S. Filipovic-Sadic, D. Protic, Eran Bram, E. Mahone, K. Nicholson, Kristen Culp, Kamyab Javanmardi, Jon Kemppainen, A. Hadd, Kevin Sharp, T. Adayev, G. LaFauci, C. Dobkin, Lili Zhou, W. Brown, E. Berry-Kravis, W. Kaufmann, G. Latham   +19 more
semanticscholar   +1 more source

Cognitive Dysfunction in FMR1 Premutation Carriers [PDF]

Current Psychiatry Reviews, 2013
Premutation carriers of the fragile X mental retardation gene (especially men) older than 50 may develop a neurodegenerative disease, the fragile X-associated tremor/ataxia syndrome (FXTAS). Carriers may present with varied cognitive impairments. Attention, working memory, declarative and procedural learning, information processing speed, and recall ...
Andreea, Seritan, Jennifer, Cogswell, Jim, Grigsby   +2 more
openaire   +2 more sources

Acute pharmacological inhibition of matrix metalloproteinase‐9 activity during development restores perineuronal net formation and normalizes auditory processing in Fmr1 KO mice

Journal of Neurochemistry, 2020
Individuals with Fragile X Syndrome (FXS) and autism spectrum disorder (ASD) exhibit cognitive impairments, social deficits, increased anxiety, and sensory hyperexcitability. Previously, we showed that elevated levels of matrix metalloproteinase‐9 (MMP‐9)
P. S. Pirbhoy, Maham Rais, J. Lovelace, Walker Woodard, K. Razak, D. Binder, I. Ethell   +6 more
semanticscholar   +1 more source

A fragile balance: FMR1 expression levels [PDF]

Human Molecular Genetics, 2003
The FMR1 gene is involved in three different syndromes, the Fragile X syndrome, premature ovarian failure (POF) and the Fragile X-associated tremor/ataxia syndrome (FXTAS) at older age. Fragile X syndrome is caused by an expanded CGG repeat above 200 units in the FMR1 gene resulting in the absence of the FMR1 mRNA and protein.
Oostra, Ben, Willemsen, Rob
openaire   +3 more sources

Fragile X family members have important and non-overlapping functions

Biomolecular Concepts, 2011
The fragile X family of genes encodes a small family of RNA binding proteins including FMRP, FXR1P and FXR2P that were identified in the 1990s. All three members are encoded by 17 exons and show alternative splicing at the 3′ ends of their respective ...
Winograd Claudia, Ceman Stephanie
doaj   +1 more source