Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG...
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
About this item
Full title
Author / Creator
McLean, Zachariah L. , Gao, Dadi , Correia, Kevin , Roy, Jennie C. L. , Shibata, Shota , Farnum, Iris N. , Valdepenas-Mellor, Zoe , Kovalenko, Marina , Rapuru, Manasa , Morini, Elisabetta , Ruliera, Jayla , Gillis, Tammy , Lucente, Diane , Kleinstiver, Benjamin P. , Lee, Jong-Min , MacDonald, Marcy E. , Wheeler, Vanessa C. , Mouro Pinto, Ricardo and Gusella, James F.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Huntington’s disease (HD) is a dominant neurological disorder caused by an expanded
HTT
exon 1 CAG repeat that lengthens huntingtin’s polyglutamine tract. Lowering mutant huntingtin has been proposed for treating HD, but genetic modifiers implicate somatic CAG repeat expansion as the driver of onset. We find that branaplam and risdiplam, smal...
Alternative Titles
Full title
Splice modulators target PMS1 to reduce somatic expansion of the Huntington’s disease-associated CAG repeat
Authors, Artists and Contributors
Author / Creator
Gao, Dadi
Correia, Kevin
Roy, Jennie C. L.
Shibata, Shota
Farnum, Iris N.
Valdepenas-Mellor, Zoe
Kovalenko, Marina
Rapuru, Manasa
Morini, Elisabetta
Ruliera, Jayla
Gillis, Tammy
Lucente, Diane
Kleinstiver, Benjamin P.
Lee, Jong-Min
MacDonald, Marcy E.
Wheeler, Vanessa C.
Mouro Pinto, Ricardo
Gusella, James F.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_04c90e61e38c4922b3fb3425418eb127
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_04c90e61e38c4922b3fb3425418eb127
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-47485-0
