Skeletal Muscle Pathogenesis in Polyglutamine Diseases [PDF]
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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Altered Metabolic Signaling and Potential Therapies in Polyglutamine Diseases [PDF]
MetabolitesPolyglutamine diseases comprise a cluster of genetic disorders involving neurodegeneration and movement disabilities. In polyglutamine diseases, the target proteins become aberrated due to polyglutamine repeat formation.
Alisha Vohra +2 more
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Studying polyglutamine diseases in Drosophila [PDF]
Experimental Neurology, 2015 Polyglutamine (polyQ) diseases are a family of dominantly transmitted neurodegenerative disorders caused by an abnormal expansion of CAG trinucleotide repeats in the protein-coding regions of the respective disease-causing genes. Despite their simple genetic basis, the etiology of these diseases is far from clear.
Zhen Xu, Yan-Ning Rui, Sheng Zhang
exaly +5 more sources
Olfactory dysfunction as an early pathogenic indicator in C. elegans models of Alzheimer's and polyglutamine diseases [PDF]
Frontiers in Aging NeuroscienceNeurodegenerative diseases such as Alzheimer's disease and polyglutamine diseases are characterized by abnormal accumulation of misfolded proteins, leading to neuronal dysfunction and subsequent neuron death.
Weikang Xue +8 more
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The Emerging Role of microRNAs in Polyglutamine Diseases [PDF]
Frontiers in Molecular Neuroscience, 2019 MicroRNAs (miRNAs) are small non-coding molecules that regulate a large amount of post-transcriptional repressor genes by recognizing semi-complementary target sequences that are normally located in the 3′ UTR of the mRNA. Altered expression of miRNA has
Xiaoyu Dong, Shuyan Cong
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Protein Misfolding and Aggregation as a Therapeutic Target for Polyglutamine Diseases [PDF]
Brain Sciences, 2017 The polyglutamine (polyQ) diseases, such as Huntington’s disease and several types of spinocerebellar ataxias, are a group of inherited neurodegenerative diseases that are caused by an abnormal expansion of the polyQ tract in disease-causative proteins ...
Toshihide Takeuchi, Yoshitaka Nagai
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Advances in Modeling Polyglutamine Diseases Using Genome Editing Tools [PDF]
Cells, 2022 Polyglutamine (polyQ) diseases, including Huntington’s disease, are a group of late-onset progressive neurological disorders caused by CAG repeat expansions.
Marianna Karwacka, Marta Olejniczak
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PolyQ Database-an integrated database on polyglutamine diseases. [PDF]
Database (Oxford), 2023 Abstract Polyglutamine (polyQ) diseases are neurodegenerative disorders caused by abnormally expanded Cytosine, Adenine, Guanine (CAG) triplet repeat sequences in the coding region of otherwise unrelated genes. Until now, nine different polyQ diseases have been described: Huntington’s disease, dentatorubral-pallidoluysian atrophy, spinal
Estevam B, Matos CA, Nóbrega C.
europepmc +4 more sources
Protein Aggregation Inhibitors as Disease-Modifying Therapies for Polyglutamine Diseases [PDF]
Frontiers in Neuroscience, 2021 The polyglutamine (polyQ) diseases are a group of inherited neurodegenerative diseases caused by the abnormal expansion of a CAG trinucleotide repeat that are translated into an expanded polyQ stretch in the disease-causative proteins. The expanded polyQ
Eiko N. Minakawa +2 more
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Differential recruitment of UBQLN2 to nuclear inclusions in the polyglutamine diseases HD and SCA3 [PDF]
Neurobiology of Disease, 2015 Accumulation of mutant polyglutamine proteins in intraneuronal inclusions is a hallmark of polyglutamine diseases. Impairment of protein clearance systems and sequestration of clearance-related proteins into inclusions occur in many protein folding ...
Li Zeng +9 more
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