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DRPLA

Dentatorubalpallidoluysian atrophy (DRPLA) Autosomal dominant CAG trinucleotide repeat... [Pg.636]

Dentatorubralpallidoluysian atrophy (Haw River syndrome) [3,4,5] DRPLA 12pl3.31 paternal 7-25... [Pg.779]

Burke, J.R., Wingfield, M.S., Lewis, K.E. et al. The Haw River syndrome dentatorubropalli-doluysian atrophy (DRPLA) in an African-American family. Nat. Genet. 7 521-524,1994. [Pg.779]

Koide, R., Ikeuchi, T., Onodera, O. et al. Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nat. Genet. 6 9-13,1994. [Pg.779]

Huntington disease (HD) is the prototypic disease caused by expansion of unstable GAG repeat. It primarily affects striatal neurons. It is a mid-life onset disorder characterized by unvoluntary movements (chorea), personality changes and dementia that progress to death within 10-20 years of onset. There are currently no treatment to delay or prevent appearance of the symptoms in the patients. Other diseases in this class include spinocerebellar ataxias (SCA) 1, 2, 3 (also known as Machado-Joseph disease, MJD), 6, and 7, DRPLA, and spinobulbar muscular atrophy (SMA, also known as Kennedy s disease) (Zoghbi and Orr 2000). [Pg.271]

Dentato-rubro-pallido-hiysian atrophy (DRPLA) (CAG) AD ... [Pg.1515]

DRPLA, dentatorubral-pallidoluysian atrophy SCA, spinocerebellar ataxia. [Pg.13]

Dentatombral PalUdoluysian Atrophy (DRPLA Haw River Syndrome). . . 333... [Pg.321]

Dentatorubralpallidoluysian atrophy (DRPLA, Haw River syndrome) DRPLA 12pl3.31 Atrophin-1 6-35 49-88 n,c... [Pg.329]

Margolis RL, Li SH, Young WS, Wagster MV, Stine OC, Kidwai AS, Ashworth RG, Ross CA (1996) DRPLA gene (atrophin-1) sequence and mRNA expression in human brain. Brain Res Mol Brain Res 36 219 226... [Pg.353]

DRPLA dentatorubral-pallidoluysian atrophy FRS2 fibroblast growth factor receptor... [Pg.2]

Similar neuronal inclusions with aggregated polyglutamine containing protein were found in SCA-1 [13], SCA-3 [14], SCA-7 [15], and DRPLA [16]. [Pg.172]

SCA Spinocerebellar ataxia DRPLA dentatorubal pallidolusian atrophy SBMA spinal bulbar muscular atrophy) Friedreich s disease Chamberlain S., et al.. Mapping of mutation causing Friedreich s ataxia to human chromosome 9. Nature, 1988,334, 248-250. [Pg.173]

In atro-118Q transgenic mice, neuronal expression of the mutant human atrophin-1 protein containing an expanded stretch of 118 polyQ results in several neurodegenerative phenotypes that are commonly seen in DRPLA patients. Symptoms include ataxia, tremors, and other motor defects. Biochemical analysis of these mice also revealed histone H3 hypo-acetylation in brain tissue [197]. Furthermore, histone hypo-acetylation has also been demonstrated in transgenic ALS mice [198]. [Pg.26]

Luthi-Carter R et al (2002) Polyglutamine and transcription gene expression changes shared by DRPLA and Huntington s disease mouse models reveal context-independent effects. Hum Mol Genet 11(17) 1927-1937... [Pg.48]

Ying M et al (2006) Sodium butyrate ameliorates histone hypoacetylation and neurodegenerative phenotypes in a mouse model for DRPLA. J Biol Chem 281(18) 12580-12586... [Pg.50]

Atrophin-1 Mutations leading to increase in polyglutamine stretches (Q7-23 normal Q49-75 pathological) (Kanazawa 1998 Oyanagi 2000 Tsuji 1999) Dentatonibral-pallidoluysian atrophy (DRPLA)... [Pg.12]

See other pages where DRPLA is mentioned: [Pg.251]    [Pg.252]    [Pg.353]    [Pg.356]    [Pg.191]    [Pg.253]    [Pg.266]    [Pg.286]    [Pg.13]    [Pg.320]    [Pg.352]    [Pg.390]    [Pg.393]    [Pg.394]    [Pg.769]    [Pg.173]    [Pg.179]    [Pg.390]    [Pg.390]    [Pg.393]    [Pg.394]    [Pg.769]    [Pg.3]    [Pg.22]    [Pg.24]   


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Dentatorubral pallidoluysian atrophy DRPLA)

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