... DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report...

... the same semantic dementia patients, van Rooij et al. identify brain-specific somatic TARDBP variants with pathogenicity supported by functional assays. 17 04 2020 13 07 2020 06 08 2020 © The Author(s) (2020). Published by Oxford University Press...

... applied to a relatively small number of immunostained slides. TARDBP C9ORF72 FTD GCI NCI TAR-DNA binding protein-43 (TDP-43) proteinopathy is characterized by aberrantly phosphorylated and/or mislocalized TDP-43 protein. There is general agreement that millions of individuals worldwide are affected...

... suggest that TDP-43 plays a role in synaptic transmission, synaptic release, and endocytosis. We also uncovered a potential novel regulation of the Wnt and BMP pathways, many of whose targets appear to be conserved. TARDBP neurodegeneration neuropathy invertebrate models of human disease RNA binding...

... of sporadic ALS is 60%. At present it is thought that 60$ to 70% of genetic mutations responsible for fALS in populations of European ancestry are known. SOD1 mutations were the earliest discoveries in fALS. Subsequently, mutations were identified in TARDBP, which encodes TDP-43 protein found in neuronal...

... onset and/or halt progression. ALS glutamate synapse molecular pathology RNA processing defects hexanucleotide repeat expansion SOD1 protein processing defects TARDBP endoplasmic reticulum stress oligodendrocytes Amyotrophic lateral sclerosis ALS Amyotrophic lateral sclerosis ALS genetics...

... at specific genes and are poised to inform how patients with amyotrophic lateral sclerosis are evaluated and treated in the clinic. genetics motor neuron disease whole exome sequencing (WES) Genome Wide Association Study (GWAS)’ SOD1 C9ORF72 TARDBP Amyotrophic lateral sclerosis ALS genetics SOD1 Whole...