SOD1, superoxide dismutase 1, 6647

N. diseases: 689; N. variants: 68
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE Review of literature published since 1997 against neurodegenerative diseases, utilizing as keywords: in silico, Alzheimer's disease, Parkinson's disease, Amyotrophic Lateral Sclerosis ALS, and Huntington's disease was conducted. 29542412 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE Specifically, sHsps interact with misfolding and damaging protein aggregates, like Glial fibrillary acidic protein in AxD, β-amyloid peptides aggregates in Alzheimer's disease, Superoxide dismutase 1 in Amyotrophic lateral sclerosis and cytosine-adenine-guanine/polyglutamine (CAG/PolyQ) in Huntington's disease, Spinocerebellar ataxia type 3, Spinal-bulbar muscular atrophy, to reduce the toxicity or increase the clearance of these protein aggregates. 29425965 2018
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 GeneticVariation disease BEFREE Laboratory and clinical studies on the potential role of CBD in Parkinson's disease (PD), Alzheimer's disease (AD), multiple sclerosis (MS), Huntington's disease (HD), amyotrophic lateral sclerosis ALS), cerebral ischemia, were examined. 28412918 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE Relevant diseases include, among others, myotonic dystrophy type 1 (DM1) with CUG repeats, Huntington's disease (HD) and spinocerebellar ataxia type 3 (SCA3) with CAG repeats, fragile X-associated tremor/ataxia syndrome (FXTAS) with CGG repeats, myotonic dystrophy type 2 (DM2) with CCUG repeats, amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) with GGGGCC repeats and spinocerebellar ataxia type 32 (SCA32) with GGCCUG. 26615955 2016
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 AlteredExpression disease BEFREE Surprisingly, we found that a number of changes affecting cellular processes in HD were also present in undifferentiated pluripotent HD iPSCs, including the dysregulation of the MAPK and Wnt signaling pathways and the dysregulation of the expression of genes related to oxidative stress, such as Sod1. 26092128 2015
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE We present the clinical, electrophysiological and molecular genetic findings of a 58-year-old male with genetically confirmed Huntington's disease (HD) and concurrent clinically definite ALS by El Escorial criteria. 19530012 2010
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE One aspect of our research program is to characterize and quantify aggregates beta-amyloid (Abeta) peptides, superoxide dismutase 1 (SOD1), and huntingtin (htt) that comprise pathologic lesions found in Alzheimer's disease, familial amyotrophic lateral sclerosis, and Huntington's disease, respectively. 20058166 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE Though Montine et al., using different HPLC method and assay techniques from those used by Cox and colleagues, were unable to reproduce the findings of Murch et al., Mash and colleagues using the original techniques of Murch et al. have recently confirmed the presence of protein-bound BMAA in the brains of North American patients dying with ALS and Alzheimer's disease (concentrations >100 microg/g) but not in the brains of non-neurological controls or Huntington's disease. 19929726 2009
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 AlteredExpression disease LHGDN Free copper, ferroxidase and SOD1 activities, lipid peroxidation and NO(x) content in the CSF. A different marker profile in four neurodegenerative diseases. 18307039 2008
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 Biomarker disease BEFREE The followings, for instance, are only a few of the many new biomarkers that have been recently identified: the phosphorylated tau protein and aggregated Beta-amyloid peptide for Alzheimer's disease (AD), Alpha-synuclein contained Lewy bodies and altered dopamine transporter (DAT) imaging for Parkinson's disease (PD), SOD mutations for familial amyotrophic lateral sclerosis (ALS), and CAG repeats resulted from Huntington's gene mutations in Huntington's disease (HD). 15538967 2004
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.100 GeneticVariation disease BEFREE Since a parental sex effect has been reported in Huntington's disease, we looked to see whether a similar effect is apparent in adult (autosomal dominant) familial ALS. 1866020 1991