Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita (Q37411787)

20 August 2017

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita (English)

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ribonucleoprotein complex

20 August 2017

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Andras Fiser

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20 August 2017

Petar N Grozdanov

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20 August 2017

Narcis Fernandez-Fuentes

series ordinal

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20 August 2017

U Thomas Meier

series ordinal

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20 August 2017

4 September 2009

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20 August 2017

Human Molecular Genetics

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20 August 2017

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20 August 2017

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20 August 2017

4546-4551

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describes a project that uses

20 August 2017

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2773269/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

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SHQ1 is required prior to NAF1 for assembly of H/ACA small nucleolar and telomerase RNPs

6 September 2017

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Advances in the understanding of dyskeratosis congenita

6 September 2017

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Structure and Functional Studies of the CS Domain of the Essential H/ACA Ribonucleoparticle Assembly Protein SHQ1

6 September 2017

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Dyskeratosis congenita: the diverse clinical presentation of mutations in the telomerase complex

6 September 2017

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Comparative protein structure modeling by combining multiple templates and optimizing sequence-to-structure alignments.

6 September 2017

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Stepwise RNP assembly at the site of H/ACA RNA transcription in human cells

6 September 2017

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Prediction of the conformation and geometry of loops in globular proteins: testing ArchDB, a structural classification of loops.

6 September 2017

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The many facets of H/ACA ribonucleoproteins

6 September 2017

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Architecture and assembly of mammalian H/ACA small nucleolar and telomerase ribonucleoproteins

6 September 2017

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The Shq1p.Naf1p complex is required for box H/ACA small nucleolar ribonucleoprotein particle biogenesis

6 September 2017

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6 September 2017

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Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis

6 September 2017

1 reference

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Crystal structure of the spliceosomal 15.5kD protein bound to a U4 snRNA fragment

6 September 2017

1 reference

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A CBF5 mutation that disrupts nucleolar localization of early tRNA biosynthesis in yeast also suppresses tRNA gene-mediated transcriptional silencing.

6 September 2017

1 reference

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A telomerase component is defective in the human disease dyskeratosis congenita

6 September 2017

1 reference

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A box H/ACA small nucleolar RNA-like domain at the human telomerase RNA 3' end

6 September 2017

1 reference

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X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

6 September 2017

1 reference

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Rapid refinement of protein interfaces incorporating solvation: application to the docking problem

6 September 2017

1 reference

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Modelling protein docking using shape complementarity, electrostatics and biochemical information

6 September 2017

1 reference

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Recognition of errors in three-dimensional structures of proteins

6 September 2017

1 reference

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NAP57, a mammalian nucleolar protein with a putative homolog in yeast and bacteria

6 September 2017

1 reference

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Impaired control of IRES-mediated translation in X-linked dyskeratosis congenita

6 September 2017

1 reference

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The Cbf5-Nop10 complex is a molecular bracket that organizes box H/ACA RNPs.

14 September 2017

1 reference

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Basal transcription activity of the dyskeratosis congenita gene is mediated by Sp1 and Sp3 and a patient mutation in a Sp1 binding site is associated with decreased promoter activity

26 June 2018

1 reference

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Crystal structure of an H/ACA box ribonucleoprotein particle.

26 June 2018

1 reference

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Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita.

2 September 2018

1 reference

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Dyskeratosis congenita and cancer in mice deficient in ribosomal RNA modification

2 September 2018

1 reference

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Small nucleolar RNAs: an abundant group of noncoding RNAs with diverse cellular functions

2 September 2018

1 reference

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A novel class of eukaryotic zinc-binding proteins is required for disease resistance signaling in barley and development in C. elegans.

2 September 2018

1 reference

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Use of pair potentials across protein interfaces in screening predicted docked complexes.

2 September 2018

1 reference

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2 September 2018

Identifiers

DOI

10.1093/HMG/DDP416

1 reference

20 August 2017

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20 August 2017

PubMed publication ID

19734544

1 reference