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Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

Proceedings of the National Academy of Sciences of the United States of America

Jul 9, 2004

Yuko MochizukiPhilip J Mason

Abstract

Dyskerin is a nucleolar protein present in small nucleolar ribonucleoprotein particles that modify specific uridine residues of rRNA by converting them to pseudouridine. Dyskerin is also a component of the telomerase complex. Point mutations in the human gene encoding dyskerin cause the...read more

Mentioned in this Paper

TruD Synthase
Bone Marrow Failure Syndromes
Pathogenic Aspects
Biochemical Pathway
Pathogenesis
Cell Cycle Proteins
Telomerase RNA Component
Telomerase Catalytic Subunit
Murine
Mutagenesis, Site-Directed
74
Paper Details
References
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  • Citations101
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Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

Proceedings of the National Academy of Sciences of the United States of America

Jul 9, 2004

Yuko MochizukiPhilip J Mason

PMID: 15240872

DOI: 10.1073/pnas.0402560101

Abstract

Dyskerin is a nucleolar protein present in small nucleolar ribonucleoprotein particles that modify specific uridine residues of rRNA by converting them to pseudouridine. Dyskerin is also a component of the telomerase complex. Point mutations in the human gene encoding dyskerin cause the...read more

Mentioned in this Paper

TruD Synthase
Bone Marrow Failure Syndromes
Pathogenic Aspects
Biochemical Pathway
Pathogenesis
Cell Cycle Proteins
Telomerase RNA Component
Telomerase Catalytic Subunit
Murine
Mutagenesis, Site-Directed
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Telomere dysfunction in response to critical telomere shortening induces dna damage checkpoints that lead to cell cycle arrest and/or cell death.

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Post-transcriptional RNA modifications can be dynamic and might have functions beyond fine-tuning the structure and function of rna.

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Paper Details
References
  • References35
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1234
  • References35
  • Citations101
12345...
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