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Article

Antisense oligonucleotides reverse SPTLC1-related hereditary sensory neuropathy in a mouse model.

Brain : a journal of neurology - 3 Jun 2026

Meng Jinhong, Ma Shunyi, Lone Museer A, Lam Hou Wang, Zhang Qiang, Cheng Shuzhi, Mackie Shona, Graham Emma, Kedzior Hanna, Demetriou Charalambos, Ziak Nicole, Andreoli Laura, Beggs Simon, Koch Stephanie, Clark Alex J, Bennett David L, Hornemann Thorsten, Muntoni Francesco, Reilly Mary M, Zhou Haiyan

Abstract excerpt

Hereditary sensory neuropathy type IA (HSN1A) is a rare neurodegenerative condition caused by dominant mutations in the Serine Palmitoyl Transferase Long Chain base subunit 1 (SPTLC1) gene. There is no treatment available. Allele-specific silencing by antisense oligonucleotides (ASOs) to preferentially silence the mutant transcripts has shown therapeutic promise for dominant gain-of-function genetic disorders. In...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41124364
DOI: 10.1093/brain/awaf403
PMCID: PMC13233042

Genes

SPTLC1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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