The role of reduced expression of fragile X mental retardation protein in neurons and increased expression in astrocytes in idiopathic and syndromic autism (duplications 15q11.2-q13)

2018 ◽  
Vol 11 (10) ◽  
pp. 1316-1331 ◽  
Author(s):  
Jarek Wegiel ◽  
W. Ted Brown ◽  
Giuseppe La Fauci ◽  
Tatyana Adayev ◽  
Richard Kascsak ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Syndromic Autism ◽  
Mental Retardation Protein

scholarly journals Role of microRNA Pathway in Mental Retardation

2007 ◽  
Vol 7 ◽  
pp. 146-154 ◽  
Author(s):  
Abrar Qurashi ◽  
Shuang Chang ◽  
Peng Jin
Keyword(s):  
Mental Retardation ◽  
Fragile X Syndrome ◽  
Genetic Basis ◽  
Fragile X ◽  
Biological Pathways ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Mirna Pathway ◽  
Microrna Pathway

Deficits in cognitive functions lead to mental retardation (MR). Understanding the genetic basis of inherited MR has provided insights into the pathogenesis of MR. Fragile X syndrome is one of the most common forms of inherited MR, caused by the loss of functional Fragile X Mental Retardation Protein (FMRP).MicroRNAs (miRNAs) are endogenous, single-stranded RNAs between 18 and 25 nucleotides in length, which have been implicated in diversified biological pathways. Recent studies have linked the miRNA pathway to fragile X syndrome. Here we review the role of the miRNA pathway in fragile X syndrome and discuss its implication in MR in general.

scholarly journals Decreased Nociceptive Sensitization in Mice Lacking the Fragile X Mental Retardation Protein: Role of mGluR1/5 and mTOR

2007 ◽  
Vol 27 (51) ◽  
pp. 13958-13967 ◽  
Author(s):  
T. J. Price ◽  
M. H. Rashid ◽  
M. Millecamps ◽  
R. Sanoja ◽  
J. M. Entrena ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Nociceptive Sensitization ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein

scholarly journals The Fragile X Mental Retardation Protein protects the lung from xenobiotic stress by facilitating the Integrated Stress Response

2021 ◽  
Author(s):  
Deblina Sain Basu ◽  
Rital Bhavsar ◽  
Imtiyaz Gulami ◽  
Saimanoz Lingamallu ◽  
Ravi Muddashetty ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Stress Response ◽  
Stress Responses ◽  
Fragile X ◽  
Air Pollutant ◽  
Environmental Toxicants ◽  
Integrated Stress Response ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein

Stress response pathways protect the lung from the damaging effects of environmental toxicants. Here we investigate the role of the Fragile X Mental Retardation Protein (FMRP), a multifunctional protein implicated in stress responses, in the lung. We report that FMRP is expressed in murine and human lungs, in the airways and more broadly. Analysis of airway stress responses in mice and in a murine cell line ex vivo, using the well-established Naphthalene (Nap) injury model, reveals that FMRP-deficient cells exhibit increased expression of markers of oxidative and genotoxic stress and increased cell death. We find that FMRP-deficient cells fail to actuate the Integrated Stress Response Pathway (ISR) and upregulate the transcription factor ATF4. Knockdown of ATF4 expression phenocopies the loss of FMRP. We extend our analysis of the role of FMRP to human bronchial BEAS-2B cells, using a 9, 10-Phenanthrenequinone air pollutant model, to find that FMRP-deficient BEAS-2B also fail to actuate the ISR and exhibit greater susceptibility. Taken together, our data suggest that FMRP has a conserved role in protecting the airways by facilitating the ISR.

The role of fragile X mental retardation protein in ovarian development and oogenesis

2013 ◽  
Vol 100 (3) ◽  
pp. S54
Author(s):  
L.J. Green ◽  
L. Brayboy ◽  
N. Oulhen ◽  
J. Robins ◽  
K. Pagidas ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Ovarian Development ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein

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

Cell ◽  
2014 ◽  
Vol 157 (4) ◽  
pp. 869-881 ◽  
Author(s):  
Roman Alpatov ◽  
Bluma J. Lesch ◽  
Mika Nakamoto-Kinoshita ◽  
Andres Blanco ◽  
Shuzhen Chen ◽  
...  
Keyword(s):  
Dna Damage ◽  
Mental Retardation ◽  
Dna Damage Response ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Damage Response
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