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

Expanding the clinical phenotypes of MT-ATP6 mutations.

Human molecular genetics - 1 Dec 2014

López-Gallardo Ester, Emperador Sonia, Solano Abelardo, Llobet Laura, Martín-Navarro Antonio, López-Pérez Manuel José, Briones Paz, Pineda Mercedes, Artuch Rafael, Barraquer Elena, Jericó Ivonne, Ruiz-Pesini Eduardo, Montoya Julio

Abstract excerpt

Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not been previously associated to mutations in this gene. To...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Leigh Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mitochondrial Myopathies

Share to Mitochondrial Proton-Translocating ATPases

Share to Mutation

Share to Phenotype

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 24986921
DOI: 10.1093/hmg/ddu339

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Expanding the clinical phenotypes of MT-ATP6 mutations.PMID 24986921Read ↗

Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation.Semantic proximity Read ↗

Effects of Tributyltin Chloride on Cybrids with or without an ATP Synthase Pathologic Mutation.Semantic proximity Read ↗

A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.Semantic proximity Read ↗

Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.Semantic proximity Read ↗

Bilateral striatal necrosis caused by a founder mitochondrial 14459G>A mutation in two independent Japanese families.Semantic proximity Read ↗

Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.Semantic proximity Read ↗

A Mutation in Mouse MT-ATP6 Gene Induces Respiration Defects and Opposed Effects on the Cell Tumorigenic Phenotype.Semantic proximity Read ↗

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism.Semantic proximity Read ↗

Biochemical phenotypes associated with the mitochondrial ATP6 gene mutations at nt8993.Semantic proximity Read ↗

Mutations in MT-ATP6 are a frequent cause of adult-onset spinocerebellar ataxia.Semantic proximity Read ↗

Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene.Semantic proximity Read ↗

Investigation of tRNA(Leu/Lys) and ATPase 6 genes mutations in Huntington's disease.Semantic proximity Read ↗

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