Results 61 to 70 of about 12,015 (253)
Cogent Medicine, 2019 Amyotrophic lateral sclerosis is the most common motor neuron disease of the adulthood. Genetic analyses performed on cases with sporadic ALS (sALS) and familial ALS (fALS) have revealed mutations most commonly in the genes C9orf72, SOD1, TARDBP, FUS ...
Ciftci Vildan +4 more
doaj +1 more source
Stem Cell Research, 2022 Amyotrophic Lateral Sclerosis (ALS) is a fatal disease affecting both upper and lower motoneurons. The transactive response DNA binding protein (TARDBP) gene, encoding for TDP-43, is one of the most commonly mutated gene associated with familial cases of
Angela D'Anzi +13 more
doaj +1 more source
Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis [PDF]
Journal of the Neurological Sciences, 2009 TAR-DNA-binding protein 43 (TDP-43), encoded by the TARDBP gene on chromosome 1p36.22, has been identified as the major pathological protein in abnormal inclusions in neurons and glial cells in sporadic amyotrophic lateral sclerosis (SALS), SOD1-negative familial ALS (FALS) and frontotemporal lobar dementia (FTLD).
Kamada, Masaki +12 more
openaire +4 more sources
Characterization of the upstream and intron promoters of the gene encoding TAR DNA-binding protein
Scientific Reports, 2021 TAR DNA-binding protein (TDP-43, encoded by TARDBP) is a multifunctional protein that regulates transcription and RNA metabolism by binding DNA or RNA. TDP-43 has been implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS) because abnormal
Minami Hasegawa-Ogawa +1 more
doaj +1 more source
Genes, 2023 Mutations in the 43 kDa transactive-response (TAR)-DNA-binding protein (TARDBP) are associated with 2–5% of familial Amyotrophic Lateral Sclerosis (ALS) cases. TAR DNA-Binding Protein 43 (TDP-43) is an RNA/DNA-binding protein involved in several cellular
Michele Lombardi +7 more
semanticscholar +1 more source
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts [PDF]
Acta Neuropathologica Communications, 2016 Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the involvement of the DNA/RNA-binding proteins TDP-43 and FUS and, more recently, of C9ORF72.
E. Onesto +11 more
openaire +4 more sources
The Genetics of Amyotrophic Lateral Sclerosis: Current Insights [PDF]
, 2016 Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that results in loss of the upper and lower motor neurons from motor cortex, brainstem and spinal cord.
Al Sultan, A. +3 more
core +2 more sources
PLoS ONE, 2014 Mutations in TARDBP, encoding Tar DNA binding protein-43 (TDP43), cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Attempts to model TDP43 dysfunction in mice have used knockouts or transgenic overexpressors, which have ...
Thomas Ricketts +11 more
doaj +1 more source
Pathogenesis of amyotrophic lateral sclerosis [PDF]
, 2016 INTRODUCTION: Amyotrophic lateral sclerosis (ALS) or motor neuron disease is a rapidly progressive neurodegenerative disorder. The primary involvement is of motor neurons in the brain, spinal cord and peripherally. There is secondary weakness of muscles
Morgan, S, Orrell, RW
core +1 more source
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration [PDF]
, 2014 Mutations in the gene coding for Sequestosome 1 (SQSTM1) have been genetically associated with amyotrophic lateral sclerosis (ALS) and Paget disease of bone. In the present study, we analyzed the SQSTM1 coding sequence for mutations in an extended cohort
Alexopoulos, Panagiotis +80 more
core +4 more sources