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

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.

Human molecular genetics - 15 May 2007

Fernandez-Vizarra Erika, Bugiani Marianna, Goffrini Paola, Carrara Franco, Farina Laura, Procopio Elena, Donati Alice, Uziel Graziella, Ferrero Iliana, Zeviani Massimo

Abstract excerpt

We investigated two unrelated children with an isolated defect of mitochondrial complex III activity. The clinical picture was characterized by a progressive encephalopathy featuring early-onset developmental delay, spasticity, seizures, lactic acidosis, brain atrophy and MRI signal changes in the basal ganglia. Both children were compound heterozygotes for novel mutations in the human bc1 synthesis like (BCS1L)...

Read the complete abstract on PubMed

Topics

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

Share to ATPases Associated with Diverse Cellular Activities
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Electron Transport Complex III

Share to Genetic Complementation Test

Share to Iron-Sulfur Proteins

Share to Mitochondrial Diseases

Share to Multiprotein Complexes

Source

Identifiers

PMID: 17403714
DOI: 10.1093/hmg/ddm072

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

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.PMID 17403714Read ↗

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

Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.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 ↗

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

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.Semantic proximity Read ↗

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

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation.Semantic proximity Read ↗

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

Modelling of BCS1L-related human mitochondrial disease in Drosophila melanogaster.Semantic proximity Read ↗

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene.Semantic proximity Read ↗

Expanding the phenotype of mitochondrial disease: Novel pathogenic variant in ISCA1 leading to instability of the iron-sulfur cluster in the protein.Semantic proximity Read ↗

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

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