Polyglutamine
Mostrando 1-12 de 123 artigos, teses e dissertações.
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1. State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
Abstract Machado-Joseph disease (SCA3/MJD) is the most common spinocerebellar ataxia worldwide, and particularly so in Southern Brazil. Due to an expanded polyglutamine at ataxin-3, SCA3/MJD presents a relentless course with no current disease modifying treatment. Clinical scales used to measure SCA3/MJD progression present moderate effect sizes, a major dra
Genet. Mol. Biol.. Publicado em: 10/06/2019
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2. Lithium carbonate and coenzyme Q10 reduce cell death in a cell model of Machado-Joseph disease
Machado-Joseph disease (MJD) or spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by expansion of the polyglutamine domain of the ataxin-3 (ATX3) protein. MJD/SCA3 is the most frequent autosomal dominant ataxia in many countries. The mechanism underlying MJD/SCA3 is thought to be mainly related to protein misfold
Braz J Med Biol Res. Publicado em: 21/11/2016
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3. Análise molecular da Ataxina 1 / Molecular analysis Ataxin 1
A análise molecular de proteínas é um componente crítico para o entendimento da molécula como um todo e de suas interações com outras moléculas nos mecanismos celulares. O papel de uma proteína no contexto celular fornece informações fundamentais para o entendimento de mecanismos biológicos causadores de muitas doenças hereditárias, cujas forma
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 24/01/2012
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4. Occupational therapy in spinocerebellar ataxia type 3: an open-label trial
Occupational therapy (OT) is a profession concerned with promoting health and well-being through occupation, by enabling handicapped people to participate in the activities of everyday life. OT is part of the clinical rehabilitation of progressive genetic neurodegenerative diseases such as spinocerebellar ataxias; however, its effects have never been determi
Publicado em: 2011
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5. Development of an in vitro model of expanded ataxin-3 cytotoxic effects and evaluation of different therapeutic strategies to control of these effects / Desenvolvimento de um modelo in vitro dos efeitos citotóxicos da ataxina-3 expandida e avaliação de diferentes estratégias terapêuticas para o controle desses efeitos
Spinocerebellar ataxia-3 (SCA3), also known as Machado-Joseph disease (MJD), belongs to a group of neurodegenerative disorders caused by expansion of a polyglutamine stretch, called polyglutamine diseases. MJD is the most frequent inherited autosomal dominant ataxia in many countries. Clinical manifestations are varied, including abnormal motor coordination
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 08/02/2010
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6. Machado-Joseph disease enhances genetic fitness : a comparison between affected and unaffected women and between MJD and the general population
Background: Machado-Joseph disease (MJD SCA3), a spinocerebellar ataxia related to expansion of a CAG tract, has already been related to anticipation and meiotic drift. However, fitness of MJD carriers has been little studied. Objective: To analyze genetic fitness of MJD patients, comparing them to their unaffected relatives and to the general population (GP
Publicado em: 2010
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7. In silico analysis identifies a C3HC4-RING finger domain of a putative E3 ubiquitin-protein ligase located at the C-terminus of a polyglutamine-containing protein
Almost identical polyglutamine-containing proteins with unknown structures have been found in human, mouse and rat genomes (GenBank AJ277365, AF525300, AY879229). We infer that an identical new gene (RING) finger domain of real interest is located in each C-terminal segment. A three-dimensional (3-D) model was generated by remote homology modeling and the fu
Brazilian Journal of Medical and Biological Research. Publicado em: 18/02/2007
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8. Functional studies of the ataxin-3 protein / Estudos funcionais da proteina ataxina-3
Spinocerebellar ataxia type 3 (SCA 3) also known as Machado-Joseph disease (MJD) belongs to a heterogeneous group of neurodegenerative diseases of the central nervous system and is characterized by the degeneration of cerebellum and its afferent and efferent ways. The SCA3/MJD gene was mapped on chromosome 14 and was named MJD1, the causative mutation is an
Publicado em: 2007
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9. The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism
PURPOSE: We examined the significance of the CAG repeat polymorphism in the pathogenesis of cryptorchidism. MATERIALS AND METHODS: Genomic deoxyribonucleic acid (DNA) was extracted from blood samples from 42 cryptorchid boys and from 31 non-cryptorchid control subjects. In the cryptorchid group, 7 had bilateral cryptorchidism and 6 had patent processus vagin
International braz j urol. Publicado em: 2006-06
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10. Altered transcription in yeast expressing expanded polyglutamine
Expanded polyglutamine tracts are responsible for at least eight fatal neurodegenerative diseases. In mouse models, proteins with expanded polyglutamine cause transcriptional dysregulation before onset of symptoms, suggesting that this dysregulation may be an early event in polyglutamine pathogenesis. Transcriptional dysregulation and cellular toxicity may b
The National Academy of Sciences.
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11. Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells
Pathological degeneration of neurons in Huntington’s disease and associated neurodegenerative disorders is directly correlated with the expansion of CAG repeats encoding polyglutamines of extended length. The physical properties of extended polyglutamines and the intracellular consequences of expression of polyglutamine expansion have been the object of in
The National Academy of Sciences.
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12. Inefficient degradation of truncated polyglutamine proteins by the proteasome
Accumulation of mutant proteins into misfolded species and aggregates is characteristic for diverse neurodegenerative diseases including the polyglutamine diseases. While several studies have suggested that polyglutamine protein aggregates impair the ubiquitin–proteasome system, the molecular mechanisms underlying the interaction between polyglutamine prot
Nature Publishing Group.