Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. - Wikidata - wikimedia - TriplyDB

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

http://www.wikidata.org/entity/Q34392501

about

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein.The Shwachman-Diamond SBDS protein localizes to the nucleolus Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA SBDS expression and localization at the mitotic spindle in human myeloid progenitors Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type Mechanism of eIF6 release from the nascent 60S ribosomal subunit.The Shwachman-Bodian-Diamond syndrome protein family is involved in RNA metabolism.Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality Analysis of CASP8 targets, predictions and assessment methods.Identification of archaeal proteins that affect the exosome function in vitro.Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.The Saccharomyces cerevisiae Hot1p regulated gene YHR087W (HGI1) has a role in translation upon high glucose concentration stress Role of Shwachman-Bodian-Diamond syndrome protein in translation machinery and cell chemotaxis: a comparative genomics approach Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence Lentiviral-mediated RNAi inhibition of Sbds in murine hematopoietic progenitors impairs their hematopoietic potential Integrity of the P-site is probed during maturation of the 60S ribosomal subunit.Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome Impaired ribosomal subunit association in Shwachman-Diamond syndrome.Structural dynamics of the yeast Shwachman-Diamond syndrome protein (Sdo1) on the ribosome and its implication in the 60S subunit maturation Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.Pathophysiology and management of inherited bone marrow failure syndromes.Shwachman-Diamond syndrome: implications for understanding the molecular basis of leukaemia.Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.Powering through ribosome assembly.Quality control mechanisms during ribosome maturation.Mechanistic insight into eukaryotic 60S ribosomal subunit biogenesis by cryo-electron microscopy DNAJC21 Mutations Link a Cancer-Prone Bone Marrow Failure Syndrome to Corruption in 60S Ribosome Subunit Maturation.Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.Eukaryotic rpL10 drives ribosomal rotation Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.A zebrafish model for the Shwachman-Diamond syndrome (SDS).Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome.New monogenic disorders identify more pathways to neutropenia: from the clinic to next-generation sequencing.Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in the SBDS Gene

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Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

http://www.wikidata.org/entity/Q34392501

description

2005 nî lūn-bûn

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2005 թուականի Փետրուարին հրատարակուած գիտական յօդուած

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2005 թվականի փետրվարին հրատարակված գիտական հոդված

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2005年の論文

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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Journal of Biological Chemistry

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Structural and mutational anal ...... ed Shwachman-Diamond Syndrome.

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P2093

Alan J Warren

http://www.w3.org/2001/XMLSchema#string

Beatriz Goyenechea

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Camille Shammas

http://www.w3.org/2001/XMLSchema#string

Christine Hilcenko

http://www.w3.org/2001/XMLSchema#string

Graeme R B Boocock

http://www.w3.org/2001/XMLSchema#string

Johanna M Rommens

http://www.w3.org/2001/XMLSchema#string

Peter R Durie

http://www.w3.org/2001/XMLSchema#string

Stephen R Michell

http://www.w3.org/2001/XMLSchema#string

Tobias F Menne

http://www.w3.org/2001/XMLSchema#string

P2860

Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta

Prediction of the archaeal exosome and its connections with the proteasome and the translation and transcription machineries by a comparative-genomic approach

Improved methods for building protein models in electron density maps and the location of errors in these models

Two crystal structures demonstrate large conformational changes in the eukaryotic ribosomal translocase

Global analysis of protein localization in budding yeast.

Crystal structure at 1.92 A resolution of the RNA-binding domain of the U1A spliceosomal protein complexed with an RNA hairpin

Crystal structure of DNA recombination protein RuvA and a model for its binding to the Holliday junction

The Pfam protein families database

Automated protein model building combined with iterative structure refinement

The GTPase superfamily: conserved structure and molecular mechanism

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19221-19229

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10.1074/JBC.M414656200

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19

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280

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2005-02-08T00:00:00Z

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8030529

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15701631

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