Variant: rs80356730 

    present in Gene: TARDBP
    present in Chromosome: 1
    Position on Chromosome: 11022418
    Alleles of this Variant: A/G

rs80356730 in TARDBP gene and AMYOTROPHIC LATERAL SCLEROSIS 10 (disorder) PMID 23827948 2013 The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons.

PMID 18288693 2008 TDP-43 A315T mutation in familial motor neuron disease.

PMID 19655382 2009 Mutation within TARDBP leads to frontotemporal dementia without motor neuron disease.

PMID 18438952 2008 TDP-43 mutation in familial amyotrophic lateral sclerosis.

PMID 18309045 2008 TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

PMID 18372902 2008 TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis.

PMID 28430856 2017 A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.

PMID 21220647 2011 Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.

PMID 24507191 2014 Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

PMID 28709720 2017 Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

PMID 23401527 2013 Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

PMID 24143176 2013 Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.

PMID 19350673 2009 TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

PMID 19465477 2009 TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity.

PMID 21418058 2012 High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.

PMID 20600671 2010 Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell.

PMID 22456481 2012 Novel TARDBP mutations in Nordic ALS patients.

PMID 20740007 2010 Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS.

PMID 18396105 2008 TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.

PMID 19224587 2009 High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.

PMID 20154440 2010 TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.

PMID 19695877 2009 Genetic variants in the promoter of TARDBP in sporadic amyotrophic lateral sclerosis.

rs80356730 in TARDBP gene and FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED PMID 24507191 2014 Axonal transport of TDP-43 mRNA granules is impaired by ALS-causing mutations.

PMID 23827948 2013 The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons.

PMID 18309045 2008 TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.

PMID 20154440 2010 TDP-43 M337V mutation in familial amyotrophic lateral sclerosis in Japan.

PMID 23401527 2013 Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

PMID 28709720 2017 Burden of rare variants in ALS genes influences survival in familial and sporadic ALS.

PMID 19465477 2009 TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity.

PMID 20600671 2010 Mutant TAR DNA-binding protein-43 induces oxidative injury in motor neuron-like cell.

PMID 24143176 2013 Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.

PMID 28430856 2017 A comprehensive analysis of rare genetic variation in amyotrophic lateral sclerosis in the UK.