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

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.

Aging - 22 Feb 2021

Murdocca Michela, Spitalieri Paola, De Masi Claudia, Udroiu Ion, Marinaccio Jessica, Sanchez Massimo, Talarico Rosa Valentina, Fiorillo Chiara, D'Adamo Monica, Sbraccia Paolo, D'Apice Maria Rosaria, Novelli Giuseppe, Sgura Antonella, Sangiuolo Federica

Abstract excerpt

Mandibular hypoplasia, Deafness and Progeroid features with concomitant Lipodystrophy define a rare systemic disorder, named MDPL Syndrome, due to almost always a de novo variant in POLD1 gene, encoding the DNA polymerase δ. We report a MDPL female heterozygote for the recurrent p.Ser605del variant. In order to deepen the functional role of the in frame deletion affecting the polymerase catalytic site of the...

Read the complete abstract on PubMed

Topics

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

Share to Cellular Senescence
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Polymerase III

Share to DNA Repair

Share to Lipodystrophy

Share to Mandible

Share to Syndrome

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 33618333
DOI: 10.18632/aging.202680
PMCID: PMC7950258

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

Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity.PMID 33618333Read ↗

Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.Semantic proximity Read ↗

Mitochondrial dysfunction in mandibular hypoplasia, deafness and progeroid features with concomitant lipodystrophy (MDPL) patients.Semantic proximity Read ↗

Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.Semantic proximity Read ↗

Child to adulthood clinical description of MDPL syndrome due to a novel variant in POLD1.Semantic proximity Read ↗

POLD1: Central mediator of DNA replication and repair, and implication in cancer and other pathologies.Semantic proximity Read ↗

Definitive diagnosis of mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome caused by a recurrent de novo mutation in the POLD1 gene.Semantic proximity Read ↗

An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.Semantic proximity Read ↗

A likely pathogenic POLD1 variant associated with mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome in a Chinese patient.Semantic proximity Read ↗

Genotype-phenotype heterogeneity among patients with lipodystrophy harboring rare POLD1 variants.Semantic proximity Read ↗

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).Semantic proximity Read ↗

Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing.Semantic proximity Read ↗

POLD1 variants leading to reduced polymerase activity can cause hearing loss without syndromic features.Semantic proximity Read ↗

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