Journal article icon

Journal article

Gene therapy with AR isoform 2 rescues spinal and bulbar muscular atrophy phenotype by modulating AR transcriptional activity

Abstract:

Spinal and bulbar muscular atrophy (SBMA) is an X-linked, adult-onset neuromuscular condition caused by an abnormal polyglutamine (polyQ) tract expansion in androgen receptor (AR) protein. SBMA is a disease with high unmet clinical need. Recent studies have shown that mutant AR-altered transcriptional activity is key to disease pathogenesis. Restoring the transcriptional dysregulation without affecting other AR critical functions holds great promise for the treatment of SBMA and other AR-rela...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Files:
Publisher copy:
10.1126/sciadv.abi6896

Authors


More by this author
Role:
Author
ORCID:
0000-0002-1238-3040
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Paediatrics
Role:
Author
ORCID:
0000-0002-3313-7631
More by this author
Role:
Author
ORCID:
0000-0001-8893-1245
Publisher:
American Association for the Advancement of Science
Journal:
Science Advances More from this journal
Volume:
7
Issue:
34
Article number:
eabi6896
Publication date:
2021-08-20
Acceptance date:
2021-06-30
DOI:
EISSN:
2375-2548
Pmid:
34417184
Language:
English
Keywords:
Pubs id:
1192310
Local pid:
pubs:1192310
Deposit date:
2021-10-05

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP