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

doi:10.1126/sciadv.abi6896

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Article

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

Science advances - 1 Aug 2021

Lim Wooi F, Forouhan Mitra, Roberts Thomas C, Dabney Jesse, Ellerington Ruth, Speciale Alfina A, Manzano Raquel, Lieto Maria, Sangha Gavinda, Banerjee Subhashis, Conceição Mariana, Cravo Lara, Biscans Annabelle, Roux Loïc, Pourshafie Naemeh, Grunseich Christopher, Duguez Stephanie, Khvorova Anastasia, Pennuto Maria, Cortes Constanza J, La Spada Albert R, Fischbeck Kenneth H, Wood Matthew J A, Rinaldi Carlo

Abstract excerpt

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...

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PMID: 34417184
DOI: 10.1126/sciadv.abi6896
PMCID: PMC8378820

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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