Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.

TDP-43 proteinopathies have been observed in a wide range of neurodegenerative diseases. Mutations in the gene encoding TDP-43 (i.e., TDP) have been identified in amyotrophic lateral sclerosis (ALS) and in frontotemporal lobe degeneration associated with motor neuron disease. To study the consequenc...

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Main Authors: Hongxia Zhou, Cao Huang, Han Chen, Dian Wang, Carlisle P Landel, Pedro Yuxing Xia, Robert Bowser, Yong-Jian Liu, Xu Gang Xia
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2010-03-01
Series:PLoS Genetics
Online Access:https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000887&type=printable
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author Hongxia Zhou
Cao Huang
Han Chen
Dian Wang
Carlisle P Landel
Pedro Yuxing Xia
Robert Bowser
Yong-Jian Liu
Xu Gang Xia
author_facet Hongxia Zhou
Cao Huang
Han Chen
Dian Wang
Carlisle P Landel
Pedro Yuxing Xia
Robert Bowser
Yong-Jian Liu
Xu Gang Xia
author_sort Hongxia Zhou
collection DOAJ
description TDP-43 proteinopathies have been observed in a wide range of neurodegenerative diseases. Mutations in the gene encoding TDP-43 (i.e., TDP) have been identified in amyotrophic lateral sclerosis (ALS) and in frontotemporal lobe degeneration associated with motor neuron disease. To study the consequences of TDP mutation in an intact system, we created transgenic rats expressing normal human TDP or a mutant form of human TDP with a M337V substitution. Overexpression of mutant, but not normal, TDP caused widespread neurodegeneration that predominantly affected the motor system. TDP mutation reproduced ALS phenotypes in transgenic rats, as seen by progressive degeneration of motor neurons and denervation atrophy of skeletal muscles. This robust rat model also recapitulated features of TDP-43 proteinopathies including the formation of TDP-43 inclusions, cytoplasmic localization of phosphorylated TDP-43, and fragmentation of TDP-43 protein. TDP transgenic rats will be useful for deciphering the mechanisms underlying TDP-43-related neurodegenerative diseases.
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institution DOAJ
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publishDate 2010-03-01
publisher Public Library of Science (PLoS)
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spelling doaj-art-9e5c6fb25ffb49b58399cfefdc4e8ab22025-08-20T03:07:21ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042010-03-0163e100088710.1371/journal.pgen.1000887Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.Hongxia ZhouCao HuangHan ChenDian WangCarlisle P LandelPedro Yuxing XiaRobert BowserYong-Jian LiuXu Gang XiaTDP-43 proteinopathies have been observed in a wide range of neurodegenerative diseases. Mutations in the gene encoding TDP-43 (i.e., TDP) have been identified in amyotrophic lateral sclerosis (ALS) and in frontotemporal lobe degeneration associated with motor neuron disease. To study the consequences of TDP mutation in an intact system, we created transgenic rats expressing normal human TDP or a mutant form of human TDP with a M337V substitution. Overexpression of mutant, but not normal, TDP caused widespread neurodegeneration that predominantly affected the motor system. TDP mutation reproduced ALS phenotypes in transgenic rats, as seen by progressive degeneration of motor neurons and denervation atrophy of skeletal muscles. This robust rat model also recapitulated features of TDP-43 proteinopathies including the formation of TDP-43 inclusions, cytoplasmic localization of phosphorylated TDP-43, and fragmentation of TDP-43 protein. TDP transgenic rats will be useful for deciphering the mechanisms underlying TDP-43-related neurodegenerative diseases.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000887&type=printable
spellingShingle Hongxia Zhou
Cao Huang
Han Chen
Dian Wang
Carlisle P Landel
Pedro Yuxing Xia
Robert Bowser
Yong-Jian Liu
Xu Gang Xia
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
PLoS Genetics
title Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
title_full Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
title_fullStr Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
title_full_unstemmed Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
title_short Transgenic rat model of neurodegeneration caused by mutation in the TDP gene.
title_sort transgenic rat model of neurodegeneration caused by mutation in the tdp gene
url https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1000887&type=printable
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