Results 61 to 70 of about 23,308 (254)

Detection and Quantification of the Fragile X Mental Retardation Protein 1 (FMRP). [PDF]

Genes (Basel), 2016
The final product of FMR1 gene transcription, Fragile X Mental Retardation Protein 1 (FMRP), is an RNA binding protein that acts as a repressor of translation. FMRP is expressed in several tissues and plays important roles in neurogenesis, synaptic plasticity, and ovarian functions and has been implicated in a number of neuropsychological disorders ...
LaFauci G, Adayev T, Kascsak R, Brown WT.   +3 more
europepmc   +5 more sources

Fragile X mental retardation protein regulates heterosynaptic plasticity in the hippocampus [PDF]

Learning & Memory, 2011
Silencing of a single gene, FMR1, is linked to a highly prevalent form of mental retardation, characterized by social and cognitive impairments, known as fragile X syndrome (FXS). The FMR1 gene encodes fragile X mental retardation protein (FMRP), which negatively regulates translation.
Charles A. Hoeffer, Peter V. Nguyen, Steven A. Connor, Eric Klann   +3 more
openaire   +3 more sources

Hair root FMRP expression for screening of fragile X full mutation females

Universa Medicina, 2016
The fragile X syndrome is the most common form of inherited mental retardation in humans, caused by an expansion of the cytosine-guanine-guanine (CGG) repeat in the fragile X mental retardation 1 (FMR1) gene located on the X chromosome.
Lantip Rujito, Dwi Kustiani, Lies Anne Severijnen, Peter Hanzon, Sultana MH Faradz, Rob Willemsen   +5 more
doaj   +1 more source

Synaptic vesicle dynamic changes in a model of fragile X [PDF]

, 2016
__Background:__ Fragile X syndrome (FXS) is a single-gene disorder that is the most common heritable cause of intellectual disability and the most frequent monogenic cause of autism spectrum disorders (ASD). FXS is caused by an expansion of trinucleotide
Bahn, S. (Sabine), Broek, A.C. (Jantine), Cappellen, W.A. (Gert) van, Cox, D. (David), Gruiter, H.M. (H. Martijn) de, Haasdijk, E.D. (Elize), Houtsmuller, A.B. (Adriaan), Lin, Z. (Zhanmin), Ozcan, S. (Sureyya), Spijker, H. (Heleen) van 't, Willemsen, R. (Rob), Zeeuw, C.I. (Chris) de   +11 more
core   +1 more source

Rational Design of Inner Ear Drug Delivery Systems

Advanced Science, EarlyView.
Hearing loss is a common disease affecting many people, and inner ear lesions are one of the most important causes. This review focuses on the treatment of inner ear hearing loss by drug delivery systems. It includes the current methods and technologies developed, and it predicts possible directions.
Xiayidan Maimaitikelimu, Zhiyan Xuan, Haoyu Ren, Keng Chen, Hui Zhang, Huan Wang   +5 more
wiley   +1 more source

Fragile X mental retardation protein interacts with TDG

Chinese Science Bulletin, 2000
Fragile X syndrome is the most common form of inherited mental retardation disease, resulting from absent of expression of its disease geneFMR1. To study the function of the fragile X mental retardation protein (FMRP) through protein/protein interaction, a mouse embryo cDNA library was screened by the yeast two-hybrid system.
J. L. Mandel, Yuting Chen, Yan Shen, Guanyun Wu, B. Bardoni, Ning Zhu, Ming Yu   +6 more
openaire   +2 more sources

Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine

Advanced Science, EarlyView.
Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang, Feng Gao, Liqun Yu, Haokun Chen, Rongrong Zhu   +4 more
wiley   +1 more source

Fragile X Mental Retardation Protein FMRP Binds mRNAs in the Nucleus [PDF]

Molecular and Cellular Biology, 2009
The fragile X mental retardation protein FMRP is an RNA binding protein that associates with a large collection of mRNAs. Since FMRP was previously shown to be a nucleocytoplasmic shuttling protein, we examined the hypothesis that FMRP binds its cargo mRNAs in the nucleus.
Stephanie Ceman, Miri Kim, Michel Bellini   +2 more
openaire   +3 more sources

Fragile X syndrome. [PDF]

, 2014
Fragile X Syndrome (FXS) is a genetic disease due to a CGG trinucleotide expansion, named full mutation (greater than 200 CGG repeats), in the fragile X mental retardation 1 gene locus Xq27.3; which leads to an hypermethylated region in the gene promoter
Ayala-Zapata, Sebastián, Forero-Forero, Jose Vicente, González-Teshima, Laura Yuriko, Hagerman, Randi, Saldarriaga, Wilmar, Tassone, Flora   +5 more
core   +1 more source

Fragile X Mental Retardation Protein expression in the retina is regulated by light. [PDF]

Exp Eye Res, 2016
Fragile X Mental Retardation Protein (FMRP) is a RNA-binding protein that modulates protein synthesis at the synapse and its function is regulated by glutamate. The retina is the first structure that participates in vision, and uses glutamate to transduce electromagnetic signals from light to electrochemical signals to neurons. FMRP has been previously
Guimarães-Souza EM, Perche O, Morgans CW, Duvoisin RM, Calaza KC.   +4 more
europepmc   +4 more sources