Results 261 to 270 of about 172,523 (297)

Increased Calcium Influx through L-type Calcium Channels in Human and Mouse Neural Progenitors Lacking Fragile X Mental Retardation Protein. [PDF]

Stem Cell Reports, 2018
Danesi C, Achuta VS, Corcoran P, Peteri UK, Turconi G, Matsui N, Albayrak I, Rezov V, Isaksson A, Castrén ML.   +9 more
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Absence of the Fragile X Mental Retardation Protein results in defects of RNA editing of neuronal mRNAs in mouse. [PDF]

RNA Biol, 2017
Filippini A, Bonini D, Lacoux C, Pacini L, Zingariello M, Sancillo L, Bosisio D, Salvi V, Mingardi J, La Via L, Zalfa F, Bagni C, Barbon A.   +12 more
europepmc   +1 more source

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The Fragile X mental retardation protein

Brain Research Bulletin, 2001
The clinical features of the Fragile X mental retardation syndrome are linked to the absence of the set of protein isoforms, derived from alternative splicing of the Fragile X mental retardation gene 1 (FMR1), and collectively termed FMRP. FMRP is an RNA binding protein that is part of a ribonucleoprotein particle associated to actively translating ...
Bardoni, Barbara, Schenck, Annette, Mandel, Jean-Louis   +2 more
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Fragile X mental retardation protein in plasticity and disease

Journal of Neuroscience Research, 2002
AbstractFragile X syndrome is the most common cause of mental retardation known to be inherited. The syndrome results from the suppressed expression of a single protein, the fragile X mental retardation protein (FMRP). Understanding the function and regulation of FMRP can, therefore, offer insights into both the pathophysiology of fragile X syndrome ...
Peter K. Todd, James S. Malter
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The fragile X mental retardation protein is associated with ribosomes

Nature Genetics, 1996
Fragile X mental retardation syndrome is one of the most common human genetic diseases. Patients carry a methylated expansion of a CGG repeat resulting in the silencing of the FMR1 gene1–5 that codes for a heterogeneous set of proteins (FMRP)6–9. FMRP is abundant in neurons and is also widely expressed, albeit at different levels, in various human and ...
Stephane Woerly, Edouard W. Khandjian, François Rousseau, François Corbin   +3 more
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Manipulating the Fragile X Mental Retardation Proteins in the Frog

2011
The frog is a model of choice to study gene function during early development, since a large number of eggs are easily obtained and rapidly develop external to the mother. This makes it a highly flexible model system in which direct tests of gene function can be investigated by microinjecting RNA antisense reagents. Two members of the Fragile X Related
Marc-Étienne Huot, Tom Moss, Nicolas Bisson, Edouard W. Khandjian   +3 more
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Fragile X Mental Retardation Protein: Past, Present and Future

Current Protein & Peptide Science, 2012
We begin by reviewing the first characterization of fragile X syndrome, which ultimately led to cloning of the FMR1 gene. Discovery of the molecular basis of this disorder, including expansion of a trinucleotide repeat, gave insight not only into fragile X syndrome but also into the premutation syndromes.
Stephanie Ceman, Miri Kim
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Fragile X Mental Retardation Protein and Stem Cells

2011
Stem cells, which can self-renew and produce different cell types, are regulated by both extrinsic signals and intrinsic factors. Fragile X syndrome, one of the most common forms of inherited mental retardation, is caused by the functional loss of fragile X mental retardation protein (FMRP).
Xuekun Li, Peng Jin, Abrar Qurashi
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Distribution of fragile X mental retardation protein in the human auditory brainstem

Neuroscience, 2014
Fragile X mental retardation protein (FMRP) binds select mRNAs, functions in intracellular transport of these mRNAs and represses their translation. FMRP is highly expressed in neurons and lack of FMRP has been shown to result in dendritic dysmorphology and altered synaptic function. FMRP is known to interact with mRNAs for the Kv3.1b potassium channel
Randy J. Kulesza, K. Beebe, Yuan Wang
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The fragile X mental retardation protein, FMRP, recognizes G‐quartets

Mental Retardation and Developmental Disabilities Research Reviews, 2004
AbstractFragile X mental retardation is a disease caused by the loss of function of a single RNA‐binding protein, FMRP. Identifying the RNA targets recognized by FMRP is likely to reveal much about its functions in controlling some aspects of memory and behavior.
Jennifer C. Darnell, Stephen T. Warren, Stephen T. Warren, Robert B. Darnell, Robert B. Darnell   +4 more
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