Results 31 to 40 of about 20,303 (218)
Molecular Mechanisms in Pentanucleotide Repeat Diseases
Cells, 2022 The number of neurodegenerative diseases resulting from repeat expansion has increased extraordinarily in recent years. In several of these pathologies, the repeat can be transcribed in RNA from both DNA strands producing, at least, one toxic RNA repeat ...
Joana R. Loureiro +3 more
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Polyglutamine Repeats in Viruses [PDF]
Molecular Neurobiology, 2018 This review explores the presence and functions of polyglutamine (polyQ) in viral proteins. In mammals, mutations in polyQ segments (and CAG repeats at the nucleotide level) have been linked to neural disorders and ataxias. PolyQ regions in normal human proteins have documented functional roles, in transcription factors and, more recently, in ...
openaire +2 more sources
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]
, 2008 Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
X. Chen +15 more
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Frontiers in Cellular Neuroscience, 2022 Huntington disease (HD) is caused by the expansion of CAG triplet repeats in exon 1 of the huntingtin (HTT) gene, which also encodes the first 17 amino acids (N-17) that can modulate the toxicity of the expanded polyQ repeat. N-17 are conserved in a wide
Xianxian Zhao +5 more
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Stimulating proteasomal degradation in human proteinopathies. [PDF]
FEBS JThe proteasome mediates the degradation of a wide range of proteins. Boosting proteasomal degradation may be beneficial in several disease contexts and can be achieved either by modulating proteasome activity or by improving substrate delivery. Proteasome activity can be enhanced by increasing proteasome abundance, inducing constitutive gate opening ...
Gierisch ME, Barchi E, Dantuma NP.
europepmc +2 more sources
Ataxin-1 fusion partners alter polyQ lethality and aggregation [PDF]
, 2007 Intranuclear inclusion bodies (IBs) are the histopathologic markers of multiple protein folding diseases. IB formation has been extensively studied using fluorescent fusion products of pathogenic polyglutamine (polyQ) expressing proteins.
Rich, T. +5 more
core +2 more sources
eLife, 2016 The polyglutamine expansion in huntingtin protein causes Huntington’s disease. Here, we investigated structural and biochemical properties of huntingtin and the effect of the polyglutamine expansion using various biophysical experiments including ...
Ravi Vijayvargia +13 more
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Pharmaceutics, 2021 Seven of the most frequent spinocerebellar ataxias (SCAs) are caused by a pathological expansion of a cytosine, adenine and guanine (CAG) trinucleotide repeat located in exonic regions of unrelated genes, which in turn leads to the synthesis of ...
Fabiola V. Borbolla-Jiménez +5 more
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Metallothioneins and copper metabolism are candidate therapeutic targets in Huntington’s disease [PDF]
, 2010 HD (Huntington's disease) is caused by a polyQ (polyglutamine) expansion in the huntingtin protein, which leads to protein misfolding and aggregation of this protein. Abnormal copper accumulation in the HD brain was first reported more than 15 years ago.
Giorgini, Flaviano +18 more
core +1 more source
Acta Biochimica et Biophysica Sinica, 2023 Nine polyglutamine (polyQ) proteins have already been identified that are considered to be associated with the pathologies of neurodegenerative disorders called polyQ diseases, but whether these polyQ proteins mutually interact and synergize in ...
Hong Jun-Ye +6 more
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