Results 31 to 40 of about 28,384 (213)

Fragile x mental retardation protein regulates proliferation and differentiation of adult neural stem/progenitor cells. [PDF]

PLoS Genetics, 2010
Fragile X syndrome (FXS), the most common form of inherited mental retardation, is caused by the loss of functional fragile X mental retardation protein (FMRP). FMRP is an RNA-binding protein that can regulate the translation of specific mRNAs.
Yuping Luo, Ge Shan, Weixiang Guo, Richard D Smrt, Eric B Johnson, Xuekun Li, Rebecca L Pfeiffer, Keith E Szulwach, Ranhui Duan, Basam Z Barkho, Wendi Li, Changmei Liu, Peng Jin, Xinyu Zhao   +13 more
doaj   +1 more source

FMRP activity and control of Csw/SHP2 translation regulate MAPK-dependent synaptic transmission

PLoS Biology, 2023
Noonan syndrome (NS) and NS with multiple lentigines (NSML) cognitive dysfunction are linked to SH2 domain-containing protein tyrosine phosphatase-2 (SHP2) gain-of-function (GoF) and loss-of-function (LoF), respectively.
Shannon N. Leahy, Chunzhu Song, Dominic J. Vita, Kendal Broadie   +3 more
doaj   +2 more sources

The Drosophila FMRP and LARK RNA-binding proteins function together to regulate eye development and circadian behavior [PDF]

, 2008
Fragile X syndrome (FXS) is the most common form of hereditary mental retardation. FXS patients have a deficit for the fragile X mental retardation protein (FMRP) that results in abnormal neuronal dendritic spine morphology and behavioral phenotypes ...
Botas, Juan, Jackson, F. Rob, Kleyner, Yelena, Morales, Joannella, Nelson, David L., Ng, Fanny, Sofola, Oyinkan, Sundram, Vasudha   +7 more
core   +1 more source

Ras signaling mechanisms underlying impaired GluR1-dependent plasticity associated with fragile X syndrome [PDF]

, 2008
Fragile X syndrome, caused by the loss of FMR1 gene function and loss of fragile X mental retardation protein (FMRP), is the most commonly inherited form of mental retardation.
Bochorishvili, G., Hu, H. L., Qin, Y., Van Aelst, L., Zhu, J. J., Zhu, Y. H.   +5 more
core   +1 more source

Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice

Neurobiology of Disease, 2008
Lack of fragile X mental retardation protein (FMRP) causes Fragile X Syndrome, the most common form of inherited mental retardation. FMRP is an RNA-binding protein and is a component of messenger ribonucleoprotein complexes, associated with brain ...
Femke M.S. de Vrij, Josien Levenga, Herma C. van der Linde, Sebastiaan K. Koekkoek, Chris I. De Zeeuw, David L. Nelson, Ben A. Oostra, Rob Willemsen   +7 more
doaj   +1 more source

The role of fragile X mental retardation protein in major mental disorders [PDF]

Neuropharmacology, 2011
Fragile X mental retardation protein (FMRP) is highly enriched in neurons and binds to approximately 4% of mRNAs in mammalian brain. Its loss is a hallmark of fragile X syndrome (FXS), the most common form of mental retardation. In this review we discuss the mutation in the fragile X mental retardation-1 gene (FMR1), that leads to FXS, the role FMRP ...
S Hossein, Fatemi, Timothy D, Folsom
openaire   +2 more sources

Toward Fulfilling the Promise of Molecular Medicine in Fragile X [PDF]

, 2010
Fragile X syndrome (FXS) is the most common inherited form of mental retardation and a leading known cause of autism. It is caused by loss of expression of the fragile X mental retardation protein (FMRP), an RNA-binding protein that negatively regulates ...
Bakker CE, Bear MF, Berry-Kravis E, Bienenstock E, Dilja D. Krueger, Huber KM, Lubs H, Mark F. Bear, Merlin LR, Raymond CR, Wiesel T   +10 more
core   +1 more source

Sumoylation regulates FMRP-mediated dendritic spine elimination and maturation

Nature Communications, 2018
Fragile X syndrome patients display intellectual disability and autism, caused by mutations in the RNA-binding protein fragile X mental retardation protein (FMRP).
Anouar Khayachi, Carole Gwizdek, Gwénola Poupon, Damien Alcor, Magda Chafai, Frédéric Cassé, Thomas Maurin, Marta Prieto, Alessandra Folci, Fabienne De Graeve, Sara Castagnola, Romain Gautier, Lenka Schorova, Céline Loriol, Marie Pronot, Florence Besse, Frédéric Brau, Emmanuel Deval, Barbara Bardoni, Stéphane Martin   +19 more
doaj   +1 more source

Le syndrome de l'X fragile : Une protéine absente et 1001 ARNm déboussolés [PDF]

, 2006
Le syndrome du X fragile, première cause de retard mental héréditaire, est une maladie monogénique liée au chromosome X. Le syndrome est causé par l’inactivation du gène Fragile Mental Retardation 1(FMR1) entraînant l’absence de la protéine FMRP dont le ...
Davidovic, Laetitia, De Koninck, Paul, Gravel, Maud, Khandjian, Edward W. Miky, Tremblay, Sandra   +4 more
core   +1 more source

GABAB receptor upregulates fragile X mental retardation protein expression in neurons [PDF]

Scientific Reports, 2015
AbstractFragile X mental retardation protein (FMRP) is an RNA-binding protein important for the control of translation and synaptic function. The mutation or silencing of FMRP causes Fragile X syndrome (FXS), which leads to intellectual disability and social impairment.
Wenhua Zhang, Chanjuan Xu, Haijun Tu, Yunyun Wang, Qian Sun, Ping Hu, Yongjian Hu, Philippe Rondard, Jianfeng Liu   +8 more
openaire   +2 more sources