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BLOC1S1 depletion via splice-switching oligonucleotides improves mitochondrial respiration and rescues ALS phenotypes.

Molecular therapy : the journal of the American Society of Gene Therapy - 4 Mar 2026

Hor Jin-Hui, Ow Jin Rong, Ng Winanto, Ramasamy Boominathan, Tabaglio Tommaso, Lim Kimberly Ngee Hui, Bin Muzakar Muhammad Ikhsan, Lim Valerie Jing Wen, Gurrampati Rajasekhar Reddy, Rajarethinam Ravisankar, Ngo Shyuan T, Ramadass Venkataramanan, Ling Shuo-Chien, Lakshmanan Manikandan, Wee Keng Boon, Ng Shi-Yan

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a rapidly progressing and debilitating neurodegenerative disease, yet the mechanisms underlying disease onset and progression remain poorly understood, particularly in sporadic ALS. Emerging evidence suggests that mitochondrial dysfunction and metabolic dysregulation are central to ALS pathophysiology. A key feature of ALS motor neurons (MNs) is hyper-acetylation of...

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Induced Pluripotent Stem Cells
Mitochondria
Amyotrophic Lateral Sclerosis
Cell Respiration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Oligonucleotides

Oligonucleotides, Antisense

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Identifiers

PMID: 41383013
DOI: 10.1016/j.ymthe.2025.12.026
PMCID: PMC12974195

Genes

BLOC1S1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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