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

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.

Cerebellum (London, England) - 1 Apr 2024

Borsche Max, Dulovic-Mahlow Marija, Baumann Hauke, Tunc Sinem, Lüth Theresa, Schaake Susen, Özcakir Selin, Westenberger Ana, Münchau Alexander, Knappe Evelyn, Trinh Joanne, Brüggemann Norbert, Lohmann Katja

Abstract excerpt

Different pathogenic variants in the DNA polymerase-gamma2 (POLG2) gene cause a rare, clinically heterogeneous mitochondrial disease. We detected a novel POLG2 variant (c.1270 T > C, p.Ser424Pro) in a family with adult-onset cerebellar ataxia and progressive ophthalmoplegia. We demonstrated altered mitochondrial integrity in patients' fibroblast cultures but no changes of the mitochondrial DNA were found when...

Read the complete abstract on PubMed

Topics

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

Share to Cerebellar Ataxia
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to Mitochondrial Diseases

Share to Mutation

Share to Ophthalmoplegia

Source

Open in PubMed Open full text

Identifiers

PMID: 37085601
DOI: 10.1007/s12311-023-01557-x
PMCID: PMC10951043

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.PMID 37085601Read ↗

A Rare Molecular Diagnosis in a Patient With Hepatocerebral Syndrome Contributes to the Expansion of the Phenotypic Spectrum of POLG2 -Related Mitochondrial Disorder.Semantic proximity Read ↗

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

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.Semantic proximity Read ↗

The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Dysfunction in Patient-Derived FibroblastsSemantic proximity Read ↗

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

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

Clinical and molecular spectrum associated with Polymerase-γ related disorders.Semantic proximity Read ↗

A case of POLG-related mitochondrial DNA maintenance defect.Semantic proximity Read ↗

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.Semantic proximity Read ↗

Wernicke Encephalopathy Complicating a Distinctive POLG Phenotype With MNGIE-Like Features.Semantic proximity Read ↗

Clinical and molecular features of POLG-related mitochondrial disease.Semantic proximity Read ↗

Zebrafish polg2 knock-out recapitulates human POLG-disorders; implications for drug treatment.Semantic proximity Read ↗

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