Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.

Journal of molecular medicine (Berlin, Germany) - 1 Oct 2021

Brischigliaro Michele, Frigo Elena, Corrà Samantha, De Pittà Cristiano, Szabò Ildikò, Zeviani Massimo, Costa Rodolfo

Abstract excerpt

Mutations in BCS1L are the most frequent cause of human mitochondrial disease linked to complex III deficiency. Different forms of BCS1L-related diseases and more than 20 pathogenic alleles have been reported to date. Clinical symptoms are highly heterogenous, and multisystem involvement is often present, with liver and brain being the most frequently affected organs. BCS1L encodes a mitochondrial AAA + -family...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amino Acid Sequence
Share to ATPases Associated with Diverse Cellular Activities

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drosophila melanogaster

Share to Electron Transport Complex III

Share to Mitochondria

Share to Mitochondrial Diseases

Share to Molecular Chaperones

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 34274978
DOI: 10.1007/s00109-021-02110-1
PMCID: PMC8455400

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.PMID 34274978Read ↗

Fly Models of Human Diseases: Drosophila as a Model for Understanding Human Mitochondrial Mutations and Disease.Semantic proximity Read ↗

Clinical and diagnostic characteristics of complex III mitopathy due to novel BCS1L gene mutation in a Saudi patient.Semantic proximity Read ↗

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in the BCS1L gene.Semantic proximity Read ↗

Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases.Semantic proximity Read ↗

Modeling mitochondrial encephalomyopathy in Drosophila.Semantic proximity Read ↗

BCS1L mutations produce Fanconi syndrome with developmental disability.Semantic proximity Read ↗

The energetic state of mitochondria modulates complex III biogenesis through the ATP-dependent activity of Bcs1.Semantic proximity Read ↗

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.Semantic proximity Read ↗

Disease models of Leigh syndrome: From yeast to organoids.Semantic proximity Read ↗

Clinical spectrum of BCS1L Mitopathies and their underlying structural relationshipsSemantic proximity Read ↗

Mitochondrial disease in flies.Semantic proximity Read ↗

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.