Results 191 to 200 of about 28,100 (214)

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
K, Beebe, Y, Wang, R, Kulesza
openaire   +2 more sources

Linking the fragile X mental retardation protein to the lipoxygenase pathway

Medical Hypotheses, 2013
Fragile X mental retardation is caused by the absence of the FMRP (fragile X mental retardation protein) a RNA-binding protein encoded by the Fmr1 gene. Despite the large number of studies about this syndrome, it is still unclear how the absence of FMRP affects the physiology of the nervous system.
openaire   +2 more sources

Biology of the fragile X mental retardation protein, an RNA-binding protein

Biochemistry and Cell Biology, 1999
The fragile X syndrome, an X-linked disease, is the most frequent cause of inherited mental retardation. The syndrome results from the absence of expression of the FMR1 gene (fragile mental retardation 1) owing to the expansion of a CGG trinucleotide repeat located in the 5prime untranslated region of the gene and the subsequent methylation of its CpG
openaire   +2 more sources

[Hair root fragile X mental retardation protein assay for the diagnosis of fragile X syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2010
Fragile X syndrome (FXS) may be identified by many methods, such as PCR assay and Southern blot. However, each method has its limits or shortcomings. This study explored the reliability of the rapid, convenient and inexpensive hair root fragile X mental retardation protein (FMRP ) assay in the identification of FXS.FMRP in hair roots was determined by ...
Xu-Feng, Luo, Jian-Min, Zhong, Xiao-Zhen, Zhang, Yin, Zou, Yong, Chen, Hua-Pin, Wu, Xiong-Ying, Yu   +6 more
openaire   +1 more source

Epigenetics and beyond: targeting writers of protein lysine methylation to treat disease

Nature Reviews Drug Discovery, 2021
Kamakoti P Bhat, Jian Jin, Or Gozani
exaly  

Mechanisms, regulation and functions of the unfolded protein response

Nature Reviews Molecular Cell Biology, 2020
Claudio Hetz, Kezhong Zhang, Randal J Kaufman   +2 more
exaly  

Cancer screening, prevention, and treatment in people with mental illness

Ca-A Cancer Journal for Clinicians, 2016
Ana Stefancic, Amy T Cunningham, Richard C Wender   +2 more
exaly  

Fragile X Mental Retardation Protein Targets G Quartet mRNAs Important for Neuronal Function

Cell, 2001
Kirk B Jensen, Peng Jin, Stephen T Warren   +2 more
exaly  

A Chromatin-Dependent Role of the Fragile X Mental Retardation Protein FMRP in the DNA Damage Response

Cell, 2014
Matthew D Simon, Chao Xu, Sladjana Prisic   +2 more
exaly  

The unfolded protein response: controlling cell fate decisions under ER stress and beyond

Nature Reviews Molecular Cell Biology, 2012
Claudio Hetz
exaly