RNA gain-of-function in spinocerebellar ataxia type 8

RS Daughters, DL Tuttle, W Gao, Y Ikeda… - PLoS …, 2009 - journals.plos.org
Microsatellite expansions cause a number of dominantly-inherited neurological diseases.
Expansions in coding-regions cause protein gain-of-function effects, while non-coding …

Non-ATG–initiated translation directed by microsatellite expansions

T Zu, B Gibbens, NS Doty… - Proceedings of the …, 2011 - National Acad Sciences
Trinucleotide expansions cause disease by both protein-and RNA-mediated mechanisms.
Unexpectedly, we discovered that CAG expansion constructs express homopolymeric …

Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8

ML Moseley, T Zu, Y Ikeda, W Gao, AK Mosemiller… - Nature …, 2006 - nature.com
We previously reported that a (CTG) n expansion causes spinocerebellar ataxia type 8
(SCA8), a slowly progressive ataxia with reduced penetrance. We now report a transgenic …

Genes and pathways affected by CAG-repeat RNA-based toxicity in Drosophila

SY Shieh, NM Bonini - Human molecular genetics, 2011 - academic.oup.com
Spinocerebellar ataxia type 3 is one of the polyglutamine (polyQ) diseases, which are
caused by a CAG-repeat expansion within the coding region of the associated genes. The …

SCA 8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF 3F

F Ayhan, BA Perez, HK Shorrock, T Zu… - The EMBO …, 2018 - embopress.org
Abstract Spinocerebellar ataxia type 8 (SCA 8) is caused by a bidirectionally transcribed
CTG· CAG expansion that results in the in vivo accumulation of CUG RNA foci, an ATG …

Expression of expanded CAG transcripts triggers nucleolar stress in Huntington's disease

H Tsoi, HYE Chan - The Cerebellum, 2013 - Springer
Polyglutamine (polyQ) diseases, including several types of spinocerebellar ataxias and
Huntington's disease (HD), are dominantly inherited neurodegenerative disorders caused …

Spinocerebellar ataxias: an update

B Soong, HL Paulson - Current opinion in neurology, 2007 - journals.lww.com
The dominant ataxias, also known as spinocerebellar ataxias, continue to grow in number.
Here we review the major categories of spinocerebellar ataxias: expanded polyglutamine …

RNA toxicity is a component of ataxin-3 degeneration in Drosophila

LB Li, Z Yu, X Teng, NM Bonini - Nature, 2008 - nature.com
Polyglutamine (polyQ) diseases are a class of dominantly inherited neurodegenerative
disorders caused by the expansion of a CAG repeat encoding glutamine within the coding …

Antisense oligonucleotide-mediated removal of the polyglutamine repeat in spinocerebellar ataxia type 3 mice

LJA Toonen, F Rigo, H van Attikum… - … Therapy-Nucleic Acids, 2017 - cell.com
Spinocerebellar ataxia type 3 (SCA3) is a currently incurable neurodegenerative disorder
caused by a CAG triplet expansion in exon 10 of the ATXN3 gene. The resultant expanded …

Mechanisms of RNA-induced toxicity in CAG repeat disorders

R Nalavade, N Griesche, DP Ryan, S Hildebrand… - Cell death & …, 2013 - nature.com
Several inherited neurodegenerative disorders are caused by CAG trinucleotide repeat
expansions, which can be located either in the coding region or in the untranslated region …