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

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.

BMC research notes - 8 Dec 2014

Zabalza Ramón, Nurminen Anssi, Kaguni Laurie S, Garesse Rafael, Gallardo M Esther, Bornstein Belén

Abstract excerpt

BACKGROUND: Mitochondrial DNA maintenance disorders are an important cause of hereditary ataxia syndrome, and the majority are associated with mutations in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase (DNA polymerase gamma), POLG. Mutations resulting in the amino acid substitutions A467T and W748S are the most common genetic causes of inherited cerebellar ataxia in Europe. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA-Directed DNA Polymerase

Share to DNA, Mitochondrial

Share to DNA Polymerase gamma

Share to Mitochondria

Share to Models, Molecular

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 25488682
DOI: 10.1186/1756-0500-7-883
PMCID: PMC4295309

Genes

POLG

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.PMID 25488682Read ↗

Consequences of mutations in human DNA polymerase gamma.Semantic proximity Read ↗

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.Semantic proximity Read ↗

Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.Semantic proximity Read ↗

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.Semantic proximity Read ↗

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and childrenSemantic proximity Read ↗

Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.Semantic proximity Read ↗

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.Semantic proximity Read ↗

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?Semantic proximity Read ↗

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.Semantic proximity Read ↗

DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.Semantic proximity Read ↗

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.Semantic proximity Read ↗

Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations.Semantic proximity Read ↗

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