Results 11 to 20 of about 28,343 (239)

Comparative Behavioral Phenotypes of Fmr1 KO, Fxr2 Het, and Fmr1 KO/Fxr2 Het Mice [PDF]

Brain Sciences, 2019
Fragile X syndrome (FXS) is caused by silencing of the FMR1 gene leading to loss of the protein product fragile X mental retardation protein (FMRP). FXS is the most common monogenic cause of intellectual disability. There are two known mammalian paralogs
Rachel Michelle Saré, Christopher Figueroa, Abigail Lemons, Inna Loutaev, Carolyn Beebe Smith   +4 more
doaj   +3 more sources

Generation and characterization of FMR1 knockout zebrafish. [PDF]

PLoS ONE, 2009
Fragile X syndrome (FXS) is one of the most common known causes of inherited mental retardation. The gene mutated in FXS is named FMR1, and is well conserved from human to Drosophila.
Marjo J den Broeder, Herma van der Linde, Judith R Brouwer, Ben A Oostra, Rob Willemsen, René F Ketting   +5 more
doaj   +6 more sources

Altered Auditory Maturation in Fragile X Syndrome and Its Involvement in Audiogenic Seizure Susceptibility. [PDF]

Autism Res
ABSTRACT Auditory hypersensitivity is a prominent symptom in Fragile X syndrome (FXS), the most prevalent monogenic cause of autism and intellectual disability. FXS arises through the loss of the protein encoded by the FMR1 (Fragile X Messenger Ribonucleoprotein 1) gene, FMRP, required for normal neural circuit excitability.
Möhrle D, Ma D, Xue W, Yan J, Cheng N.
europepmc   +2 more sources

Genetic Reduction of the Translational Repressors FMRP and 4E-BP2 Preserves Memory in Mouse Models of Alzheimer's Disease. [PDF]

Aging Cell
Genetic reduction of the translational repressors FMRP or 4E‐BP2 prevents amyloid‐β oligomer–induced suppression of hippocampal protein synthesis and memory loss in mice. Targeting translational control preserves cognitive function in Alzheimer's models, revealing mRNA translation as a promising therapeutic axis for memory preservation.
Ribeiro FC, Cozachenco D, Parkhill M, Rodrigue B, Borges C, Lacaille JC, Nader K, De Felice FG, Lourenco MV, Aguilar-Valles A, Sonenberg N, Ferreira ST.   +11 more
europepmc   +2 more sources

ERβ/circAHNAK Axis Inhibits USP10-FMR1 Deubiquitination to Prevent m⁶A-Mediated ADAM17 Decay and Promote Angiogenesis in Clear Cell Renal Cell Carcinoma. [PDF]

Adv Sci (Weinh)
In clear cell renal cell carcinoma, estrogen receptor β (ERβ) upregulates circAHNAK, which competitively binds USP10 to prevent FMR1 deubiquitination, leading to FMR1 degradation. Loss of FMR1 hinders m⁶A‐dependent decay of ADAM17 mRNA, resulting in ADAM17 accumulation in tumor exosomes and enhanced angiogenesis.
Xu C, Zhang S, Liu Y, Lv J, Cao Y, Chen Y, Sun H, Zhang B, Dai S, Li J, Li X, Shi B, Sun Q, Zhu M, Gu J.   +14 more
europepmc   +2 more sources

Metabolic Alterations in FMR1 Premutation Carriers [PDF]

Frontiers in Molecular Biosciences, 2020
FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood. Currently the development of biomarkers and effective treatments in FMR1 premutations is still in its infancy.
Yiqu Cao, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
openaire   +3 more sources

FMRP regulates the subcellular distribution of cortical dendritic spine density in a non-cell-autonomous manner

Neurobiology of Disease, 2021
Fragile X syndrome (FXS) is the most common form of intellectual disability that arises from the dysfunction of a single gene—Fmr1. The main neuroanatomical correlate of FXS is elevated dendritic spine density on cortical pyramidal neurons, which has ...
Katherine M. Bland, Adam Aharon, Eden L. Widener, M. Irene Song, Zachary O. Casey, Yi Zuo, George S. Vidal   +6 more
doaj   +1 more source

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

Utilizing FMR1 gene mutations as predictors of treatment success in human in vitro fertilization. [PDF]

PLoS ONE, 2014
Mutations of the fragile X mental retardation 1 (FMR1) gene are associated with distinct ovarian aging patterns.To confirm in human in vitro fertilization (IVF) that FMR1 affects outcomes, and to determine whether this reflects differences in ovarian ...
Vitaly A Kushnir, Yao Yu, David H Barad, Andrea Weghofer, Eric Himaya, Ho-Joon Lee, Yan-Guang Wu, Aya Shohat-Tal, Emanuela Lazzaroni-Tealdi, Norbert Gleicher   +9 more
doaj   +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