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Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

Archive ouverte | David, Gilles | CCSD

The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients. On mutated all...

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

Archive ouverte | Trottier, Yvon | CCSD

International audience

Differential distribution of the normal and mutated forms of huntingtin in the human brain

Archive ouverte | Gourfinkel-An, Isabelle | CCSD

International audience. Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called h...

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