TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Disease: Inclusion Body Myopathy, Sporadic ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE CYLD expressed with phosphorylated TDP-43, phosphorylated p62, and Lys63-linked ubiquitin in the nuclear and perinuclear regions of muscle fibres of wild-type TDP-43 TG mice and the degenerative myofibres of sIBM patients with rimmed vacuoles and endomysial cellular infiltration. 31406156 2019
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE Our observation suggested that TDP-43 aggregates might not be sufficient to trigger the pathogenesis of sIBM although myofiber sarcoplasmic aggregation of TDP-43 led to myofiber degeneration via ER stress and possibly calcium dysregulation, independently of inflammatory process. 30130494 2018
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE The aim of this study was to present clinical and muscle histopathological findings, including immunostaining for LC3B, p62, <i>α</i>-synuclein, and TDP-43, in 18 patients with sIBM. 29780824 2018
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE Using cultured cells and mouse skeletal muscle, we show that TDP-43 acetylation-mimics promote TDP-43 phosphorylation and ubiquitination, perturb mitochondria, and initiate degenerative inflammatory responses that resemble sporadic inclusion body myositis pathology. 28724966 2017
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE Pathological deposits of TDP-43 were found in muscles in all sIBM as well as in control cases. 26785370 2015
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE Here, we exploit high quality RNA from frozen sIBM muscle biopsies for transcriptomic studies on TDP43-proteinopathy patient tissue. 24462217 2014
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE TDP-43, OPTN and, to a lesser extent, FUS/TLS were more frequently accumulated in the cytoplasm in patients with sIBM and OPMD than in patients with PM, DM, neurogenic muscular atrophy, or healthy control subjects. 22860700 2013
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE Myonuclear structural abnormalities and the presence of nucleic acid-binding proteins, including the TAR DNA binding protein TDP-43, in sporadic inclusion body myositis (sIBM) sarcoplasm are important recent observations. 19680126 2009
CUI: C0751713
Disease: Inclusion Body Myopathy, Sporadic
Inclusion Body Myopathy, Sporadic 		0.090 Biomarker disease BEFREE This study adds sIBM and hereditary inclusion body myopathies to the growing list of TDP-43 positive inclusion diseases. 18796596 2008