Results 1 to 10 of about 8,259 (127)

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

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   +6 more sources

Evidence for a fragile X messenger ribonucleoprotein 1 ( FMR1 ) mRNA gain‐of‐function toxicity mechanism contributing to the pathogenesis of fragile X‐associated premature ovarian insufficiency [PDF]

FASEB Journal, 2022
Fragile X-associated premature ovarian insufficiency (FXPOI) is among a family of disorders caused by expansion of a CGG trinucleotide repeat sequence located in the 5’ untranslated region (UTR) of the fragile X messenger ribonucleoprotein 1 (FMR1) gene on the X chromosome.
Gracjan Michlewski
exaly   +7 more sources

Cingulate protein arginine methyltransferases 1 regulates peripheral hypersensitivity via fragile X messenger ribonucleoprotein

Frontiers in Molecular Neuroscience, 2023
The deficit of fragile X messenger ribonucleoprotein (FMRP) leads to intellectual disability in human and animal models, which also leads to desensitization of pain after nerve injury. Recently, it was shown that the protein arginine methyltransferases 1
Xiang-Yao Li, Huifang Shang, Shang Hui-Fang   +2 more
exaly   +5 more sources

Fragile X Messenger Ribonucleoprotein 1 (FMR1), a novel inhibitor of osteoblast/osteocyte differentiation, regulates bone formation, mass, and strength in young and aged male and female mice [PDF]

Bone Research, 2023
Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene mutations lead to fragile X syndrome, cognitive disorders, and, in some individuals, scoliosis and craniofacial abnormalities. Four-month-old (mo) male mice with deletion of the FMR1 gene exhibit a mild
Padmini Deosthale, Julián Balanta-Melo, Amy Creecy, Chongshan Liu, Alejandro Marcial, Laura Morales, Julita Cridlin, Sylvia Robertson, Chiebuka Okpara, David J. Sanchez, Mahdi Ayoubi, Joaquín N. Lugo, Christopher J. Hernandez, Joseph M. Wallace, Lilian I. Plotkin   +14 more
doaj   +4 more sources

The Fragile X Messenger Ribonucleoprotein 1 Regulates the Morphology and Maturation of Human and Rat Oligodendrocytes [PDF]

Glia
The Fragile X Messenger Ribonucleoprotein (FMRP) is an RNA binding protein that regulates the translation of multiple mRNAs and is expressed by neurons and glia in the mammalian brain. Loss of FMRP leads to Fragile X Syndrome (FXS), a common inherited form of intellectual disability and autism.
Siddharthan Chandran, Bhuvaneish Thangaraj Selvaraj, Sumantra Chattarji   +2 more
exaly   +6 more sources

Fragile X messenger ribonucleoprotein 1 (FMRP) regulates glycolytic gene expression under chronic hypoxia in HCT116 cells [PDF]

Scientific Reports
Oxygen shortage, known as hypoxia, occurs commonly in both physiological and pathological conditions. Transcriptional regulation by hypoxia-inducible factors is a dominant regulatory mechanism controlling hypoxia-responsive genes during acute hypoxia ...
Yoko Ogura, Xiaoning Sun, Zaijun Zhang, Kentaro Kawata, Jinyu Wu, Ryuma Matsubara, Atsuko Nakanishi Ozeki, Kenzui Taniue, Rena Onoguchi-Mizutani, Shungo Adachi, Koh Nakayama, Nobuhito Goda, Nobuyoshi Akimitsu   +12 more
doaj   +4 more sources

Therapeutic GSK-3β targeting stabilizes multifunctional β-catenin to rescue neuronal and behavioral deficits in fragile X messenger ribonucleoprotein 1 knockout mice

Brain Research Bulletin
Fragile X syndrome (FXS) is the predominant singlegene cause of inherited intellectual disability and is strongly associated with autism spectrum disorder (ASD).
Siming Zhang, Jinquan Li, Yushan Chen
exaly   +5 more sources

Peripheral Fragile X messenger ribonucleoprotein is required for the timely closure of a critical period for neuronal susceptibility in the ventral cochlear nucleus

Frontiers in Cellular Neuroscience, 2023
Alterations in neuronal plasticity and critical periods are common across neurodevelopmental diseases, including Fragile X syndrome (FXS), the leading single-gene cause of autism.
Xiaoyan Yu, Yuan Wang
exaly   +3 more sources

Use of Machine Learning to Identify Markers of Risk for Fragile X-Associated Tremor/Ataxia Syndrome: A Preliminary Analysis. [PDF]

Ann Neurol
Objective The objective of this study was to examine whether machine learning has the capacity to prospectively identify and predict the emergence of Fragile X‐associated tremor/ataxia syndrome (FXTAS) among male fragile X premutation carriers (PCs). Methods We explored neuropsychological and motor evaluation metrics, brain magnetic resonance imaging ...
Gupta C, Poudel A, Wang JY, Hagerman R, Espinal G, Famula J, Schneider A, Tassone F, Rivera SM, Chuah CN, Hessl D.   +10 more
europepmc   +2 more sources

Mis-spliced FMR1 transcripts in human fragile X syndrome neural progenitors and neurons [PDF]

Journal of Neurodevelopmental Disorders
Background Fragile X syndrome (FXS) is a neurodevelopmental disorder caused by loss of fragile X messenger ribonucleoprotein (FMRP). In most cases, this results from a CGG expansion exceeding 200 repeats in the 5’ untranslated region of the fragile X ...
Shaima M. Hourani, Kagistia Hana Utami, Sher Li Oh, Maija L. Castrén, Mahmoud A. Pouladi   +4 more
doaj   +2 more sources