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Article

SWATH-MS reveals tissue-specific proteomic changes in a Leigh syndrome mouse model.

Molecular genetics and metabolism - 1 Mar 2026

Khumalo Sibonelo Glen, Naicker Previn, Lindeque Jeremie Zander, Venter Marianne

Abstract excerpt

Mutations in the Ndufs4 gene encoding the accessory subunit of complex I (CI) of the mitochondrial oxidative phosphorylation (OXPHOS) system, are the most common causes of Leigh Syndrome (LS). LS is a severe infantile neurodegenerative disorder characterised by various clinical phenotypes ranging from ataxia, cardiomyopathy, swallowing difficulties, visual problems, psychomotor regression to fatal respiratory...

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PMID: 41506052
DOI: 10.1016/j.ymgme.2025.109715

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PTEN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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