Article

A model for the dynamics of expanded CAG repeat alleles: <i>ATXN2</i> and <i>ATXN3</i> as prototypes

2023-09-09

Abstract excerpt

Spinocerebellar ataxia types 2 (SCA2) and 3 (SCA3/MJD) are diseases due to dominant unstable expansions of CAG repeats (CAGexp). Age of onset of symptoms (AO) correlates with the CAGexp length. Repeat instability leads to new expansions, to important AO anticipations and to the eventual extinction of lineages. Because of that, compensatory forces are expected to act on the maintenance of expanded alleles, but they...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 15427551-ed5f-5d08-a37b-45b251fca064
DOI: 10.1101/2023.09.07.556735

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A model for the dynamics of expanded CAG repeat alleles: <i>ATXN2</i> and <i>ATXN3</i> as prototypesDOI 10.1101/2023.09.07.556735Read

Selective forces acting on spinocerebellar ataxia type 3/Machado-Joseph disease recurrency: A systematic review and meta-analysis.Semantic proximity Read

Spinocerebellar ataxia type 3/Machado-Joseph disease: segregation patterns and factors influencing instability of expanded CAG transmissions.Semantic proximity Read

Age-dependent somatic expansion of the<i>ATXN3</i>CAG repeat in the blood and buccal cell DNA of individuals with spinocerebellar ataxia type 3Semantic proximity Read

Allele-specific expression of <i>ATXN3</i> in blood samples of Machado-Joseph disease expansion carriersSemantic proximity Read

Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease.Semantic proximity Read

Spinocerebellar ataxia type 2 has multiple ancestral origins.Semantic proximity Read

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2).Semantic proximity Read

Age is an important independent modifier of SCA3 phenotype severity.Semantic proximity Read

Factors Associated with Intergenerational Instability of ATXN3 CAG Repeat and Genetic Anticipation in Chinese Patients with Spinocerebellar Ataxia Type 3.Semantic proximity Read

Spinocerebellar ataxia type 2 has multiple ancestral originsSemantic proximity Read

Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles.Semantic proximity Read

Clinical Evidence of Disease Anticipation in Families Segregating a <i>C9orf72</i> Repeat ExpansionSemantic proximity Read