Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum.

doi:10.3390/cells8111406

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Article

Dyskerin Mutations Present in Dyskeratosis Congenita Patients Increase Oxidative Stress and DNA Damage Signalling in Dictyostelium Discoideum.

Cells - 8 Nov 2019

Rodriguez-Centeno Javier, Perona Rosario, Sastre Leandro

Abstract excerpt

Dyskerin is a protein involved in the formation of small nucleolar and small Cajal body ribonucleoproteins. These complexes participate in RNA pseudouridylation and are also components of the telomerase complex required for telomere elongation. Dyskerin mutations cause a rare disease, X-linked dyskeratosis congenita, with no curative treatment. The social amoeba Dictyostelium discoideum contains a gene coding for...

Topics

Amino Acid Sequence
Animals
Cell Cycle Proteins
Cell Proliferation
Cells, Cultured
DNA Damage
Dictyostelium
Dyskeratosis Congenita
Gene Expression Regulation
Gene Knock-In Techniques
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Nuclear Proteins

Oxidative Stress

Reactive Oxygen Species

Signal Transduction

Telomere

Source

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Identifiers

PMID: 31717312
DOI: 10.3390/cells8111406
PMCID: PMC6912284

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