Glutamine repeats and neurodegeneration.

By H. Zoghbi, H. Orr. Annual Review of Neuroscience, 2000

1,304 citations recorded by the source corpus.

Subfields: Cellular and Molecular Neuroscience, Clinical Biochemistry, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/f70db17642e026d64fb2f191ddb871733487523e

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Citations in the corpus

The ubiquitin proteasome system in neurodegenerative diseases: sometimes the chicken, sometimes the egg. (2003, neutral): “, 2002; Verhoef et (Zoghbi and Orr, 2000); and in SCA-17, it is a TATA al.”
Proteotoxic stress and inducible chaperone networks in neurodegenerative disease and aging. (2008, background): “HSF1 in unstressed metazoan cells is maintained predominantly in a repressed non-DNA-binding monomeric state by transient interactions with chaperones including Hsp90, Hsp70, and Hsp40 (Abravaya et al. 1992; Shi et al. 1998; Zou et al. 1998).”
Folding proteins in fatal ways (2003, background): “A recently recognized group of protein-folding diseases of the central nervous system are the polyglutamine repeat disorders, such as Huntington's disease and several forms of familial spinocerebellar ataxi”
A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. (2006, background): “The inherited ataxias are caused by either gain-offunction or loss-of-function mutations in seemingly unrelated genes (Zoghbi and Orr, 2000; Taroni and DiDonato, 2004).”
Full-Length Human Mutant Huntingtin with a Stable Polyglutamine Repeat Can Elicit Progressive and Selective Neuropathogenesis in BACHD Mice (2008, background): “Mouse models have been valuable in investigating the critical pathogenic mechanisms in HD (Zoghbi and Orr, 2000; Menalled and Chesselet, 2002).”
Neurodegenerative diseases: a decade of discoveries paves the way for therapeutic breakthroughs (2004, background): “Polyglutamine repeat diseases The polyglutamine repeat (polyQ) diseases encompass at least nine inherited neurodegenerative diseases, including Huntington disease, Kennedy disease (spinobulbar muscular atrophy or SBMA), dentatorubro-pallidoluysian atrophy and six forms of spinocerebellar ataxia (”
Trehalose alleviates polyglutamine-mediated pathology in a mouse model of Huntington disease (2004, background): “The mutation that causes Huntington disease is an expansion of a CAG repeat in the first exon of the gene encoding the protein huntingti”
ER stress and neurodegenerative diseases (2006, background): “mitochondrial and an impairment of the UPS contributed to the disease progression.(57,58) It is a matter of debate whether the polyQ protein aggregates are deleterious for neurons or whether they preserve vital functions in the cell.”
Genetic Essentialism: On the Deceptive Determinism of DNA (2011, background): “Further, the onset of the symptoms of the disease can even be predicted on the basis of the number of repeating sequences that exist (Zoghbi & Orr, 2000).”
Diseases of Unstable Repeat Expansion: Mechanisms and Common Principles (2005, neutral): “cgi?id=164400">spinocerebellar ataxia 1 , 2, 3, 6, 7 and 17 (SCA1/2/3/6/7/17) (Ref”
Iron, brain ageing and neurodegenerative disorders (2004, background): “The disease is caused by a substantial reduction in the concentration of the mitochondrial protein frataxin, which is provoked by a large GAA triplet-repeat expansion in the first intron of the frataxin gene, resulting in a reduction in frataxin expression by transcription inhibitio”
Microsatellites within genes: structure, function, and evolution. (2004, background): “This neuronal selectivity disappears in the earliest juvenile-onset cases, when the (Gln) n tract becomes disproportionately large relative to the rest of the protein; there may be a threshold for Gln repeat length beyond which it becomes the predominant toxic moiety (Zoghbi and Orr 2000).”