Condition: FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED


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.