Description:

Praca wykonana pod opieką promotoraProf. dr. hab. Włodzimierza J. Krzyżosiakaoraz promotora pomocniczegoDr. Macieja Figla

Location:

Poznań

Abstract:

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerativedisorder caused by the expansion of the CAG triplet repeats in the coding region of theATXN3 gene. Patients suffering from SCA3 carry an ATXN3 allele with 60–82 CAG repeats,whereas healthy individuals present a non-pathogenic number of repeats, usually between 13and 41 CAGs. The neurological symptoms that become evident in the third or fourth decadeof life include ataxia, dystonia, muscle weakness, spasticity and ocular symptoms. SCA3belongs to the group of polyglutamine diseases caused by the expansion of CAG repeats inthe coding sequence of the respective genes. The polyglutamine disease family comprisesHuntington’s disease (HD), spinal and bulbar muscular atrophy (SBMA), dentatorubralpallidoluysian atrophy (DRPLA) and six spinocerebellar ataxias type 1, 2, 3, 6, 7 and 17.They share many similarities, including a common mutation type, selective neuronalvulnerability and misfolding and aggregation of polyglutamine protein. All polyglutaminediseases are currently incurable

Start page:

1

End page:

31

Detailed Resource Type:

PhD Dissertations

Format:

application/pdf

Resource Identifier:

oai:rcin.org.pl:208771

Language:

pol

Language of abstract:

pol ; eng

Rights:

Creative Commons Attribution BY-SA 4.0 license

Terms of use:

-

Digitizing institution:

Institute of Bioorganic Chemistry of the Polish Academy of Science

Original in:

Institute of Bioorganic Chemistry of the Polish Academy of Science

Projects co-financed by:

Operational Program Digital Poland, 2014-2020, Measure 2.3: Digital accessibility and usefulness of public sector information; funds from the European Regional Development Fund and national co-financing from the state budget.

Access:

Open