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Article

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

Human molecular genetics - 15 Jan 2020

Longo Fabiana, Benedetti Sara, Zambon Alberto A, Sora Maria Grazia Natali, Di Resta Chiara, De Ritis Daniele, Quattrini Angelo, Maltecca Francesca, Ferrari Maurizio, Previtali Stefano Carlo

Abstract excerpt

Mitochondria undergo continuous cycles of fusion and fission in response to physiopathological stimuli. The key player in mitochondrial fission is dynamin-related protein 1 (DRP1), a cytosolic protein encoded by dynamin 1-like (DNM1L) gene, which relocalizes to the outer mitochondrial membrane, where it assembles, oligomerizes and drives mitochondrial division upon guanosine-5'-triphosphate (GTP) hydrolysis. Few...

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PMID: 31868880
DOI: 10.1093/hmg/ddz211

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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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