COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

doi:10.1038/s41467-026-73455-9

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Article

COXFA4L2 upregulation preserves residual cytochrome c oxidase activity in COXFA4-related Leigh-like encephalopathy.

Nature communications - 30 May 2026

Falabella Micol, Lopez Calcerrada Sandra, Aref Jana, Gao Jiaze, Macken William L, Pizzamiglio Chiara, Kabiljo Renata, Francavilla Anna Lucia, Gaignard Pauline, Pouzet Antoine, Levy Jonathan, Barcia Giulia, Leighton Jamie K, Chronopoulou Efstathia, Pierre Germaine, Köksal Özgül Riza, Dursun Ali, Halligan Rebecca, Mundy Helen, Raza Alvi Javeria, Sultan Tipu, Craigen William James, Emrick Lisa, Rosenfeld Jill A, Elmakkawy Gehad, Kim JiHye, Gleeson Joseph J, Rad Aboulfazl, Oprea Gabriela, Hussain Maqbool, Rehman Khalil Ur, Riaz Sadia, Taylor Robert W, Procaccio Vincent, Zaki Maha S, Fernandez-Vizarra Erika, Pierri Ciro Leonardo, Hanna Michael G, Houlden Henry, Maroofian Reza, Ugalde Cristina, Taanman Jan-Willem, Pitceathly Robert D S

Abstract excerpt

Primary mitochondrial diseases (PMDs) affect approximately 1 in 4300 individuals and cause early-onset neuromuscular and multisystem dysfunction with reduced lifespan. They result from pathogenic variants in mitochondrial or nuclear DNA that impair oxidative phosphorylation. Cytochrome c oxidase (COX; complex IV) deficiency is a well-established cause of PMD, leading to a broad spectrum of phenotypes. COXFA4...

Topics

Humans
Electron Transport Complex IV
Leigh Disease
Up-Regulation
Fibroblasts
Mitochondrial Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Female

Male

Mitochondria

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 42218136
DOI: 10.1038/s41467-026-73455-9
PMCID: PMC13392013

Genes

COXFA4
COXFA4L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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