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Article

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.

The Journal of clinical investigation - 1 Nov 2012

Almajan Eva R, Richter Ricarda, Paeger Lars, Martinelli Paola, Barth Esther, Decker Thorsten, Larsson Nils-Göran, Kloppenburg Peter, Langer Thomas, Rugarli Elena I

Abstract excerpt

Mutations in the AFG3L2 gene have been linked to spinocerebellar ataxia type 28 and spastic ataxia-neuropathy syndrome in humans; however, the pathogenic mechanism is still unclear. AFG3L2 encodes a subunit of the mitochondrial m-AAA protease, previously implicated in quality control of misfolded inner mitochondrial membrane proteins and in regulatory functions via processing of specific substrates. Here, we used...

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Identifiers

PMID: 23041622
DOI: 10.1172/JCI64604
PMCID: PMC3484458

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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