GENE OVERVIEW OF KEY PUBLISHED STUDIES FOR ALS


GeneTARDBP
Other namesALS10; TDP-43
Gene nameTAR DNA binding protein
Gene inheritanceFALS genes found in SALS
Discovery methodLinkage,Candidate gene
CategoryALTERED DNA/RNA PROCESSING
Chromosome1p36.22
GRCh37 (hg19)Chr1:11072679-11085549 ( +)
GRCh38 (hg38)Chr1:11012622-11025492(+)
BackgroundTDP43 is a human low molecular weight neurofilament mRNA-binding protein. Inclusions of TDP-43 described in MND and FTD. Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALS
ResultTDP43 mutations found in FALS and SALS patients
Mutations53
Patients108
FALSSALSMaleFemaleBulbarLimbNo dataMean age onsetN
584063352579155104

BIOINFORMATICS

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Gen2Phen   LOVD   Orphanet Human Proteome Map Proteomics DB ALS Data Browser

TOP META-ANALYSIS RESULT FROM ALSGENE

For more details on this and other meta-analysis results in this region please visit the ALSGene database

ANIMAL MODELS

                               

KEY PUBLICATIONS (39)

First_AuthorYearTitlePaper
Select  Full_Paper
Bäumer2009TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variationFull_Paper
Bäumer2009TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variationFull_Paper
Benajiba2009TARDBP mutations in motoneuron disease with frontotemporal lobar degenerationFull_Paper
Borroni2014TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease courseFull_Paper
Chio2012ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutationsFull_Paper
Conforti2011TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosisFull_Paper
Conforti2011TARDBP gene mutations in South Italian patients with Amyotrophic Lateral Sclerosis.Full_Paper
Corrado2009High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosisFull_Paper
Daoud2008Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosisFull_Paper
Daoud2008Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosisFull_Paper
Del Bo2009TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutationsFull_Paper
Dickson2007TDP-43 in differential diagnosis of motor neuron disordersFull_Paper
Fujita2008Anterior horn cells with abnormal TDP-43 immunoreactivities show fragmentation of the Golgi apparatus in ALSFull_Paper
Gijselinck2008Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALSFull_Paper
Gitcho2008TDP-43 A315T mutation in familial motor neuron diseaseFull_Paper
Guerreiro2008TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosisFull_Paper
Kabashi2008TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisFull_Paper
Kamada2009Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosisFull_Paper
Kamada2009TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosisFull_Paper
Kirby2009Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosisFull_Paper
Kuhnlein2008Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutationsFull_Paper
Lagier-Tourenne2009Rethinking ALS: The FUS about TDP-43Full_Paper
Larier-Tourenne2009Rethinking ALS: the FUS about TDP-43Full_Paper
Lemmens2009TDP-43 M311V mutation in familial amyotrophic lateral sclerosisFull_Paper
Millecamps2010SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlationsFull_Paper
Origone2009Enlarging clinical spectrum of FALS with TARDBP gene mutations: S393L variant in an Italian family showing phenotypic variability and relevance for genetic counsellingFull_Paper
Pesiridis2009Mutations in TDP-43 link glycine-rich domain functions to amyotrophic lateral sclerosisFull_Paper
Rutherford2008Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosisFull_Paper
Sreedharan2008TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosisFull_Paper
Tsai2010FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALSFull_Paper
van Blitterswijk2012Genetic overlap between apparently sporadic motor neuron diseasesFull_Paper
Van Deerlin2008TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysisFull_Paper
Williams2009A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindredFull_Paper
Winton2008A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitroFull_Paper
Winton2009A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitroFull_Paper
Xiong2010Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosisFull_Paper
Yokoseki2008TDP-43 mutation in familial amyotrophic lateral sclerosisFull_Paper
Zou2012Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese originFull_Paper