Results 11 to 20 of about 14,352 (184)
Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences, 1999 An increasing number of neurodegenerative disorders have been found to be caused by expanding CAG triplet repeats that code for polyglutamine. Huntington's disease (HD) is the most common of these disorders and dentato-rubral-pallidoluysian atrophy (DRPLA) is very similar to HD, but is caused by mutation in a different gene, making them good models to ...
C A, Ross +8 more
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Oxidative Stress and Neurodegeneration: Interconnected Processes in PolyQ Diseases
Antioxidants, 2021 Neurodegenerative polyglutamine (polyQ) disorders are caused by trinucleotide repeat expansions within the coding region of disease-causing genes. PolyQ-expanded proteins undergo conformational changes leading to the formation of protein inclusions which
Ioannis Gkekas +5 more
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Na+/H+ exchangers induce autophagy in neurons and inhibit polyglutamine-induced aggregate formation.
PLoS ONE, 2013 In polyglutamine diseases, an abnormally elongated polyglutamine results in protein misfolding and accumulation of intracellular aggregates. Autophagy is a major cellular degradative pathway responsible for eliminating unnecessary proteins, including ...
Kazuya Togashi +5 more
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J Proteins Counteract Amyloid Propagation and Toxicity in Yeast
Biology, 2022 The accumulation of misfolded proteins as amyloids is associated with pathology in dozens of debilitating human disorders, including diabetes, Alzheimer’s, Parkinson’s, and Huntington’s diseases.
Daniel C. Masison +2 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 ...
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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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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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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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Solution structure of polyglutamine tracts in GST‐polyglutamine fusion proteins
FEBS Letters, 2002 Aggregation of expanded polyglutamine (polyQ) seems to be the cause of various genetic neurodegenerative diseases. Relatively little is known as yet about the polyQ structure and the mechanism that induces aggregation. We have characterised the solution structure of polyQ in a proteic context using a model system based on glutathione S‐transferase ...
Masino L +5 more
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