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Article

Hepatic gene replacement improves energy metabolism and survival in a mouse model of neonatal mitochondrial disease GRACILE syndrome.

Molecular therapy : the journal of the American Society of Gene Therapy - 5 Aug 2026

Banerjee Rishi, Purhonen Janne, Sultana Nasrin, Ros Oliver, Nieminen Anni I, Kietz Christa, Fellman Vineta, Kallijärvi Jukka

Abstract excerpt

Preclinical gene therapy studies of mitochondrial diseases remain limited due to the typically multi-organ manifestations and the scarcity of physiologically relevant animal models. Mutations in BCS1L, a nuclear gene encoding an assembly factor for mitochondrial complex III (CIII), are the most common cause of CIII deficiency. The most severe phenotype, GRACILE syndrome, is caused by a homozygous Finnish founder...

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Source

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Identifiers

PMID: 42035262
DOI: 10.1016/j.ymthe.2026.04.044
PMCID: PMC13464136

Genes

BCS1L

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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