NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

doi:10.1016/j.ajhg.2018.01.008

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

Topics Community

Back to search

Article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

American journal of human genetics - 1 Mar 2018

Piekutowska-Abramczuk Dorota, Assouline Zahra, Mataković Lavinija, Feichtinger René G, Koňařiková Eliška, Jurkiewicz Elżbieta, Stawiński Piotr, Gusic Mirjana, Koller Andreas, Pollak Agnieszka, Gasperowicz Piotr, Trubicka Joanna, Ciara Elżbieta, Iwanicka-Pronicka Katarzyna, Rokicki Dariusz, Hanein Sylvain, Wortmann Saskia B, Sperl Wolfgang, Rötig Agnès, Prokisch Holger, Pronicka Ewa, Płoski Rafał, Barcia Giulia, Mayr Johannes A

Abstract excerpt

Respiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly...

Topics

Amino Acid Sequence
Brain
Brain Diseases
Electron Transport Complex I
Female
Fibroblasts
Humans
Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Magnetic Resonance Imaging

Male

Mitochondrial Diseases

Mutation

Oxidative Phosphorylation

Pedigree

Porins

Source

Open in PubMed Open full text

Identifiers

PMID: 29429571
DOI: 10.1016/j.ajhg.2018.01.008
PMCID: PMC5985356

Genes

NDUFB8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.PMID 29429571Read ↗

Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.Semantic proximity Read ↗

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.Semantic proximity Read ↗

Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I.Semantic proximity Read ↗

Clinical and molecular findings in children with complex I deficiency.Semantic proximity Read ↗

Complex I deficiency: clinical features, biochemistry and molecular genetics.Semantic proximity Read ↗

The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.Semantic proximity Read ↗

Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL.Semantic proximity Read ↗

Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.Semantic proximity Read ↗

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.Semantic proximity Read ↗

Biallelic mutations in NDUFA8 cause complex I deficiency in two siblings with favorable clinical evolution.Semantic proximity Read ↗

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.Semantic proximity Read ↗

Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options.Semantic proximity Read ↗

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