Results 31 to 40 of about 11,319 (157)
Degenerate codon mixing for PCR-based manipulation of highly repetitive sequences
BMC Research Notes, 2018 Objective Repeat expansion of polyglutamine tracks leads to a group of inherited human neurodegenerative disorders. Studying such repetitive sequences is required to gain insight into the pathophysiology of these diseases.
Dhanushika Ratnayake +2 more
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Nuclear accumulation of polyglutamine disease proteins and neuropathology
Molecular Brain, 2009 There are nine inherited neurodegenerative disorders caused by polyglutamine (polyQ) expansion in various disease proteins. Although these polyglutamine proteins have different functions and are localized in different subcellular regions, all the polyQ ...
Havel Lauren S, Li Shihua, Li Xiao-Jiang
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Splice isoforms of the polyglutamine disease protein ataxin-3 exhibit similar enzymatic yet different aggregation properties. [PDF]
PLoS ONE, 2010 Protein context clearly influences neurotoxicity in polyglutamine diseases, but the contribution of alternative splicing to this phenomenon has rarely been investigated.
Ginny Marie Harris +4 more
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Activation of p38MAPK contributes to expanded polyglutamine-induced cytotoxicity.
PLoS ONE, 2008 BackgroundThe signaling pathways that may modulate the pathogenesis of diseases induced by expanded polyglutamine proteins are not well understood.Methodologies/principal findingsHerein we demonstrate that expanded polyglutamine protein cytotoxicity is ...
Maria Tsirigotis +4 more
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PLoS ONE, 2009 BackgroundMisfolding- and aggregation-prone proteins underlying Parkinson's, Huntington's and Machado-Joseph diseases, namely alpha-synuclein, huntingtin, and ataxin-3 respectively, adopt numerous intracellular conformations during pathogenesis ...
Erik Kvam +5 more
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Molecular Therapy: Nucleic Acids, 2021 Polyglutamine (polyQ) diseases are inherited neurodegenerative disorders caused by expansion of cytosine-adenine-guanine (CAG)-trinucleotide repeats in causative genes.
Tomoki Hirunagi +14 more
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RACK1 modulates polyglutamine-induced neurodegeneration by promoting ERK degradation in Drosophila.
PLoS Genetics, 2021 Polyglutamine diseases are neurodegenerative diseases caused by the expansion of polyglutamine (polyQ) tracts within different proteins. Although multiple pathways have been found to modulate aggregation of the expanded polyQ proteins, the mechanisms by ...
Jun Xie, Yongchao Han, Tao Wang
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Ion channels and neuronal excitability in polyglutamine neurodegenerative diseases
Biomolecular Concepts, 2022 Polyglutamine (polyQ) diseases are a family composed of nine neurodegenerative inherited disorders (NDDs) caused by pathological expansions of cytosine-adenine-guanine (CAG) trinucleotide repeats which encode a polyQ tract in the corresponding proteins ...
Martinez-Rojas Vladimir A. +2 more
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Molecular Therapy: Nucleic Acids, 2019 Spinocerebellar ataxia type 3 (SCA3) and type 1 (SCA1) are dominantly inherited neurodegenerative disorders that are currently incurable. Both diseases are caused by a CAG-repeat expansion in exon 10 of the Ataxin-3 and exon 8 of the Ataxin-1 gene ...
Eleni Kourkouta +10 more
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The role of ubiquitination in spinal and bulbar muscular atrophy
Frontiers in Molecular Neuroscience, 2022 Spinal and bulbar muscular atrophy (SBMA) is a neurodegenerative and neuromuscular genetic disease caused by the expansion of a polyglutamine-encoding CAG tract in the androgen receptor (AR) gene.
Medha Sengupta +2 more
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