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Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures

Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic... Full description

Journal Title: Proceedings of the National Academy of Sciences of the United States of America 27 January 2015, Vol.112(4), pp.949-56
Main Author: Myrick, Leila K
Other Authors: Deng, Pan-Yue , Hashimoto, Hideharu , Oh, Young Mi , Cho, Yongcheol , Poidevin, Mickael J , Suhl, Joshua A , Visootsak, Jeannie , Cavalli, Valeria , Jin, Peng , Cheng, Xiaodong , Warren, Stephen T , Klyachko, Vitaly A
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1091-6490 ; PMID: 25561520 Version:1 ; DOI: 10.1073/pnas.1423094112
Link: http://pubmed.gov/25561520
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recordid: medline25561520
title: Independent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
format: Article
creator:
  • Myrick, Leila K
  • Deng, Pan-Yue
  • Hashimoto, Hideharu
  • Oh, Young Mi
  • Cho, Yongcheol
  • Poidevin, Mickael J
  • Suhl, Joshua A
  • Visootsak, Jeannie
  • Cavalli, Valeria
  • Jin, Peng
  • Cheng, Xiaodong
  • Warren, Stephen T
  • Klyachko, Vitaly A
subjects:
  • Bk Channels
  • Fmr1 Sequencing
  • Fmrp
  • Fragile X Syndrome
  • Missense Mutation
  • Fragile X Syndrome
  • Mutation, Missense
  • Seizures
  • Fragile X Mental Retardation Protein -- Metabolism
ispartof: Proceedings of the National Academy of Sciences of the United States of America, 27 January 2015, Vol.112(4), pp.949-56
description: Fragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic functions of FMRP are independent and have distinct roles in FXS neuropathology remain poorly understood. Here, we demonstrate an independent presynaptic function for FMRP through the study of an ID patient with an FMR1 missense mutation. This mutation, c.413G > A (R138Q), preserves FMRP's canonical functions in RNA binding and translational regulation, which are traditionally associated with postsynaptic compartments. However, neuronally driven expression of the mutant FMRP is unable to rescue structural defects at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, suggesting a presynaptic-specific impairment. Furthermore, mutant FMRP loses the ability...
language: eng
source:
identifier: E-ISSN: 1091-6490 ; PMID: 25561520 Version:1 ; DOI: 10.1073/pnas.1423094112
fulltext: fulltext
issn:
  • 10916490
  • 1091-6490
url: Link


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titleIndependent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
creatorMyrick, Leila K ; Deng, Pan-Yue ; Hashimoto, Hideharu ; Oh, Young Mi ; Cho, Yongcheol ; Poidevin, Mickael J ; Suhl, Joshua A ; Visootsak, Jeannie ; Cavalli, Valeria ; Jin, Peng ; Cheng, Xiaodong ; Warren, Stephen T ; Klyachko, Vitaly A
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subjectBk Channels ; Fmr1 Sequencing ; Fmrp ; Fragile X Syndrome ; Missense Mutation ; Fragile X Syndrome ; Mutation, Missense ; Seizures ; Fragile X Mental Retardation Protein -- Metabolism
descriptionFragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic functions of FMRP are independent and have distinct roles in FXS neuropathology remain poorly understood. Here, we demonstrate an independent presynaptic function for FMRP through the study of an ID patient with an FMR1 missense mutation. This mutation, c.413G > A (R138Q), preserves FMRP's canonical functions in RNA binding and translational regulation, which are traditionally associated with postsynaptic compartments. However, neuronally driven expression of the mutant FMRP is unable to rescue structural defects at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, suggesting a presynaptic-specific impairment. Furthermore, mutant FMRP loses the ability...
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titleIndependent role for presynaptic FMRP revealed by an FMR1 missense mutation associated with intellectual disability and seizures
descriptionFragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic functions of FMRP are independent and have distinct roles in FXS neuropathology remain poorly understood. Here, we demonstrate an independent presynaptic function for FMRP through the study of an ID patient with an FMR1 missense mutation. This mutation, c.413G > A (R138Q), preserves FMRP's canonical functions in RNA binding and translational regulation, which are traditionally associated with postsynaptic compartments. However, neuronally driven expression of the mutant FMRP is unable to rescue structural defects at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, suggesting a presynaptic-specific impairment. Furthermore, mutant FMRP loses the ability...
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abstractFragile X syndrome (FXS) results in intellectual disability (ID) most often caused by silencing of the fragile X mental retardation 1 (FMR1) gene. The resulting absence of fragile X mental retardation protein 1 (FMRP) leads to both pre- and postsynaptic defects, yet whether the pre- and postsynaptic functions of FMRP are independent and have distinct roles in FXS neuropathology remain poorly understood. Here, we demonstrate an independent presynaptic function for FMRP through the study of an ID patient with an FMR1 missense mutation. This mutation, c.413G > A (R138Q), preserves FMRP's canonical functions in RNA binding and translational regulation, which are traditionally associated with postsynaptic compartments. However, neuronally driven expression of the mutant FMRP is unable to rescue structural defects at the neuromuscular junction in fragile x mental retardation 1 (dfmr1)-deficient Drosophila, suggesting a presynaptic-specific impairment. Furthermore, mutant FMRP loses the ability...
doi10.1073/pnas.1423094112
pmid25561520
date2015-01-27