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Article

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

Human genomics - 12 Nov 2025

Murdocca Michela, Romeo Isabella, Maccaroni Serena, Curcio Antonio, Pepe Gerardo, Helmer-Citterich Manuela, Alcaro Stefano, Novelli Giuseppe, Sangiuolo Federica

Abstract excerpt

BACKGROUND: Mandibular hypoplasia, Deafness, Progeroid features, and Lipodystrophy (MDPL) syndrome is a very rare genetic disorder linked to variants in the POLD1 gene, which encodes the catalytic subunit of DNA polymerase delta, a key enzyme involved in DNA replication and repair. Most patients carry a recurrent in frame deletion (p.Ser605del) within the active site of the p125 subunit. Despite its rarity,...

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DNA Polymerase III
Molecular Docking Simulation
Poly (ADP-Ribose) Polymerase-1
Progeria
Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41219970
DOI: 10.1186/s40246-025-00848-0
PMCID: PMC12606881

Genes

POLD1
PARP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Structural and functional impact of the POLD1 Ser605del variant in MDPL syndrome: insights from protein-protein interactions.PMID 41219970Read ↗

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