Results 31 to 40 of about 16,136 (210)
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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Frontiers in Molecular Neuroscience, 2017 Spinal and bulbar muscular atrophy (SBMA) is caused by expression of a polyglutamine (polyQ)-expanded androgen receptor (AR). The inefficient nuclear proteasomal degradation of the mutant AR results in the formation of nuclear inclusions containing amino-
Jill M. Yersak +6 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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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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Autophagy Modulation as a Treatment of Amyloid Diseases
Molecules, 2019 Amyloids are fibrous proteins aggregated into toxic forms that are implicated in several chronic disorders. More than 30 diseases show deposition of fibrous amyloid proteins associated with cell loss and degeneration in the affected tissues.
Zoe Mputhia +5 more
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Skeletal Muscle Pathogenesis in Polyglutamine Diseases
Cells, 2022 Polyglutamine diseases are characterized by selective dysfunction and degeneration of specific types of neurons in the central nervous system. In addition, nonneuronal cells can also be affected as a consequence of primary degeneration or due to neuronal
Caterina Marchioretti +5 more
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Cells, 2021 Spinocerebellar ataxia type 3 (SCA3) is a hereditary ataxia caused by inheritance of a mutated form of the human ATXN3 gene containing an expanded CAG repeat region, encoding a human ataxin-3 protein with a long polyglutamine (polyQ) repeat region ...
Katherine J. Robinson +4 more
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Polyglutamine Disease: Acetyltransferases Awry [PDF]
Current Biology, 2002 Recent evidence indicates that inhibition of histone acetyltransferases may be a primary cause of cellular pathogenesis in polyglutamine diseases such as Huntington disease; the results raise the possibility that pharmacologic manipulation of protein acetylation levels could be of therapeutic benefit.
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Polyglutamine (polyQ) disorders [PDF]
Nucleus, 2012 Polyglutamine (PolyQ)-related diseases are dominant late-onset genetic disorders that are manifested by progressive neurodegeneration, leading to behavioral and physical impairments. An increased body of evidence suggests that chromatin structure and epigenetic regulation are involved in disease pathology.
Cohen-Carmon D, Meshorer E
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The emerging role of the first 17 amino acids of huntingtin in Huntington’s disease
Biomolecular Concepts, 2015 Huntington’s disease (HD) is caused by a polyglutamine (polyQ) domain that is expanded beyond a critical threshold near the N-terminus of the huntingtin (htt) protein, directly leading to htt aggregation. While full-length htt is a large (on the order of
Arndt James R. +2 more
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