scholarly journals In Vitroandin CelluloEvidences for Association of the Survival of Motor Neuron Complex with the Fragile X Mental Retardation Protein

2007 ◽  
Vol 283 (9) ◽  
pp. 5598-5610 ◽  
Author(s):  
Nathalie Piazzon ◽  
Florence Rage ◽  
Florence Schlotter ◽  
Hervé Moine ◽  
Christiane Branlant ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Motor Neuron ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein ◽  
Survival Of Motor Neuron

scholarly journals Fragile X mental retardation protein recognizes a G quadruplex structure within the survival motor neuron domain containing 1 mRNA 5′-UTR

2017 ◽  
Vol 13 (8) ◽  
pp. 1448-1457 ◽  
Author(s):  
Damian S. McAninch ◽  
Ashley M. Heinaman ◽  
Cara N. Lang ◽  
Kathryn R. Moss ◽  
Gary J. Bassell ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Motor Neuron ◽  
Fragile X ◽  
Survival Motor Neuron ◽  
Spliceosome Assembly ◽  
Fragile X Mental Retardation ◽  
Quadruplex Structure ◽  
G Quadruplex ◽  
Mental Retardation Protein

SMNDC1 mRNA adopts a 5′-UTR G quadruplex structure recognized specifically by FMRP, potentially affecting spliceosome assembly in FXS.

scholarly journals DrosophilaTorsin Protein Regulates Motor Control and Stress Sensitivity and Forms a Complex with Fragile-X Mental Retardation Protein

2016 ◽  
Vol 2016 ◽  
pp. 1-14 ◽  
Author(s):  
Phuong Nguyen ◽  
Jong Bok Seo ◽  
Hyo-Min Ahn ◽  
Young Ho Koh
Keyword(s):  
Mental Retardation ◽  
Protein Complexes ◽  
Fragile X ◽  
Stress Sensitivity ◽  
Altered Expression ◽  
Fragile X Mental Retardation ◽  
Evolutionarily Conserved ◽  
Mental Retardation Protein ◽  
Synaptic Boutons

We investigated unknownin vivofunctions of Torsin by usingDrosophilaas a model. Downregulation ofDrosophilaTorsin (DTor) by DTor-specific inhibitory double-stranded RNA (RNAi) induced abnormal locomotor behavior and increased susceptibility to H2O2. In addition, altered expression of DTor significantly increased the numbers of synaptic boutons. One important biochemical consequence of DTor-RNAi expression in fly brains was upregulation of alcohol dehydrogenase (ADH). Altered expression of ADH has also been reported inDrosophilaFragile-X mental retardation protein (DFMRP) mutant flies. Interestingly, expression of DFMRP was altered in DTor mutant flies, and DTor and DFMRP were present in the same protein complexes. In addition, DTor and DFMRP immunoreactivities were partially colocalized in several cellular organelles in larval muscles. Furthermore, there were no significant differences between synaptic morphologies ofdfmrpnull mutants anddfmrpmutants expressing DTor-RNAi. Taken together, our evidences suggested that DTor and DFMRP might be present in the same signaling pathway regulating synaptic plasticity. In addition, we also found that human Torsin1A and human FMRP were present in the same protein complexes, suggesting that this phenomenon is evolutionarily conserved.

scholarly journals The FMRP/GRK4mRNA interaction uncovers a new mode of binding of the Fragile X mental retardation protein in cerebellum

2015 ◽  
Vol 43 (17) ◽  
pp. 8540-8550 ◽  
Author(s):  
Thomas Maurin ◽  
Mireille Melko ◽  
Sabiha Abekhoukh ◽  
Olfa Khalfallah ◽  
Laetitia Davidovic ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Fragile X ◽  
Fragile X Mental Retardation ◽  
Mental Retardation Protein
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