Results 31 to 40 of about 21,934 (176)

Fragile X mental retardation protein: from autism to neurodegenerative disease [PDF]

Frontiers in Cellular Neuroscience, 2015
Fragile X mental retardation protein (FMRP) is a RNA binding protein, the absence of which due to silencing of the FMR1 gene causes fragile X syndrome, an X-linked neurodevelopmental disorder (Bassell and Warren, 2008; Bhakar et al., 2012; Santoro et al., 2012). FMRP regulates the transport, stability and translation of its mRNA targets.
Hansen eWang
doaj   +3 more sources

Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells [PDF]

Proteomics Insights, 2019
Jiang Zhang, Molly Losh, Elizabeth Berry-Kravis   +2 more
exaly   +2 more sources

Differential regulation of BK channels by fragile X mental retardation protein. [PDF]

J Gen Physiol, 2020
Fragile X mental retardation protein (FMRP) is an RNA-binding protein prominently expressed in neurons. Missense mutations or complete loss of FMRP can potentially lead to fragile X syndrome, a common form of inherited intellectual disability. In addition to RNA regulation, FMRP was also proposed to modulate neuronal function by direct interaction with
Kshatri A, Cerrada A, Gimeno R, Bartolomé-Martín D, Rojas P, Giraldez T.   +5 more
europepmc   +3 more sources

An “Omic” Overview of Fragile X Syndrome

Biology, 2021
Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene and, consequently, in the absence of its ...
Olivier Dionne, François Corbin
doaj   +1 more source

Fragile X Mental Retardation Protein and the Ribosome [PDF]

Molecular Cell, 2014
In this issue of Molecular Cell, Chen et al. (2014) provide evidence that FMRP represses translation by binding the ribosome, suggesting a novel form of translational control.
Harigaya, Yuriko, Parker, Roy
openaire   +2 more sources

Evidence that fragile X mental retardation protein is a negative regulator of translation.

Human Molecular Genetics, 2001
Fragile X syndrome is a common form of inherited mental retardation. Most fragile X patients exhibit mutations in the fragile X mental retardation gene 1 (FMR1) that lead to transcriptional silencing and hence to the absence of the fragile X mental retardation protein (FMRP).
B. Laggerbauer, D. Ostareck, Eva‐Maria Keidel, A. Ostareck-Lederer, Utz Fischer   +4 more
semanticscholar   +3 more sources

On BC1 RNA and the fragile X mental retardation protein [PDF]

Proceedings of the National Academy of Sciences, 2008
The fragile X mental retardation protein (FMRP), the functional absence of which causes fragile X syndrome, is an RNA-binding protein that has been implicated in the regulation of local protein synthesis at the synapse. The mechanism of FMRP's interaction with its target mRNAs, however, has remained controversial. In one model, it has been
Anna, Iacoangeli, Timofey S, Rozhdestvensky, Natalia, Dolzhanskaya, Barthélémy, Tournier, Janin, Schütt, Jürgen, Brosius, Robert B, Denman, Edouard W, Khandjian, Stefan, Kindler, Henri, Tiedge   +9 more
openaire   +7 more sources

Fragile X Mental Retardation Syndrome: Structure of the KH1-KH2 Domains of Fragile X Mental Retardation Protein [PDF]

Structure, 2007
Fragile X syndrome is the most common form of inherited mental retardation in humans, with an estimated prevalence of about 1 in 4000 males. Although several observations indicate that the absence of functional Fragile X Mental Retardation Protein (FMRP) is the underlying basis of Fragile X syndrome, the structure and function of FMRP are currently ...
Valverde, Roberto, Pozdnyakova, Irina, Kajander, Tommi, Venkatraman, Janani, Regan, Lynne   +4 more
openaire   +2 more sources

Cytoplasmic Polyadenylation Element-Binding Protein 1 Post-transcriptionally Regulates Fragile X Mental Retardation 1 Expression Through 3′ Untranslated Region in Central Nervous System Neurons

Frontiers in Cellular Neuroscience, 2022
Fragile X syndrome (FXS) is an inherited intellectual disability caused by a deficiency in Fragile X mental retardation 1 (Fmr1) gene expression. Recent studies have proposed the importance of cytoplasmic polyadenylation element-binding protein 1 (CPEB1)
Souichi Oe, Shinichi Hayashi, Susumu Tanaka, Taro Koike, Yukie Hirahara, Ryohei Seki-Omura, Rio Kakizaki, Sumika Sakamoto, Yosuke Nakano, Yasuko Noda, Hisao Yamada, Masaaki Kitada   +11 more
doaj   +1 more source

Molecular Insights into Mental Retardation: Multiple Functions for the Fragile X Mental Retardation Protein? [PDF]

Current Issues in Molecular Biology, 2004
Mental retardation is a frequent cause of intellectual and physical impairment. Several genes associated with mental retardation have been mapped to the X chromosome, among them, there is FMR1. The absence of or mutation in the Fragile Mental Retardation Protein, FMRP, is responsible for the Fragile X syndrome.
Zalfa, F., Bagni, Claudia
openaire   +5 more sources