Results 211 to 220 of about 22,723 (239)

Polyglutamine expansion diseases: failing to deliver

Trends in Molecular Medicine, 2005
Polyglutamine (polyQ)-expansion diseases are dominantly inherited adult-onset neurodegenerative diseases with unknown pathogenic mechanisms. Current models for pathogenesis include potential toxic effects of polyQ proteins, interference with survival pathways and deregulated gene transcription. Recently, nuclear and aggregate-independent alterations in
Gerardo, Morfini, Gustavo, Pigino, Scott T, Brady   +2 more
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Polyglutamine diseases: protein cleavage and aggregation

Current Opinion in Neurobiology, 1999
Neuronal aggregates of the disease-causing protein, often in the nucleus of affected cells, are a pathological hallmark of the neurodegenerative diseases known as polyglutamine disorders. It was suggested that these nuclear aggregates are the cause of these disorders.
H Y, Zoghbi, H T, Orr
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Peripheral markers of autophagy in polyglutamine diseases

Neurological Sciences, 2017
Polyglutamine disorders are neurodegenerative diseases that share a CAG repeat expansion in the coding region, resulting in aggregated proteins that can be only degraded through aggrephagy. We measured the expression of autophagy genes in peripheral blood mononuclear cells of 20 patients with Huntington's disease (HD), 20 with spinocerebellar ataxia ...
PUORRO, GIORGIA, MARSILI, ANGELA, Sapone, Francesca, PANE, CHIARA, DE ROSA, ANNA, PELUSO, SILVIO, DE MICHELE, GIUSEPPE, FILLA, ALESSANDRO, SACCA', FRANCESCO   +8 more
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Molecular Genetics and Biomarkers of Polyglutamine Diseases

Current Molecular Medicine, 2008
Polyglutamine diseases are hereditary neurodegenerative disorders caused by an abnormal expansion of a trinucleotide CAG repeat, which encodes a polyglutamine tract. To date, nine polyglutamine diseases are known: Huntington's disease (HD), spinal and bulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA) and six forms of ...
Masahisa, Katsuno, Haruhiko, Banno, Keisuke, Suzuki, Yu, Takeuchi, Motoshi, Kawashima, Fumiaki, Tanaka, Hiroaki, Adachi, Gen, Sobue   +7 more
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Pathological Mechanisms in Polyglutamine Expansion Diseases

2001
Since 1991, 9 monogenic neurodegenerative diseases have been shown to be caused by moderate expansion of a CAG repeat coding for a polyglutamine stretch in specific target proteins. These disorders include Huntington’s disease (HD), spinobulbar muscular atrophy (SBMA) and various spinocerebellar ataxias (SCAs), and their pathogenic mechanism has been ...
D, Devys, G, Yvert, A, Lunkes, Y, Trottier, J L, Mandel   +4 more
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[MicroRNAs and polyglutamine diseases].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2014
Polyglutamine(PolyQ) diseases comprise a group of inherited neurodegenerative disorders with significant clinical and genetic heterogeneity. Although they share a common mechanism involving dynamic expansion of CAG trinucleotide repeats, their clinical features may vary and there has been no specific treatment.
Li, Zhang, Hong, Jiang
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Polyglutamine diseases

Trends in Genetics, 1999
Majid Hafezparast, Elizabeth Fisher
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Polyglutamine Diseases

2007
Meyer J. Friedman, Shi-Hua Li, Xiao-Jiang Li   +2 more
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A mistranslation-prone transcriptome underlying polyglutamine expansion diseases

Nature Reviews Molecular Cell Biology, 2021
Florian Buhr, Michele Vendruscolo
exaly  

Polyglutamine expansion and Huntington's disease

Biochemical Society Transactions, 1998
G P, Bates, L, Mangiarini, E E, Wanker, S W, Davies   +3 more
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