About: Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts

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About: Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Diamond-Blackfan anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g., RPS19) or large (e.g., RPL11) ribosomal subunit are found in more than half of these patients. The mutations cause ribosomal haploinsufficiency, which reduces overall translation efficiency of cellular mRNAs. We reduced the expression of Rps19 or Rpl11 in mouse erythroblasts and investigated mRNA polyribosome association, which revealed deregulated translation initiation of specific transcripts. Among these were Bag1, encoding a Hsp70 cochaperone, and Csde1, encoding an RNA-binding protein, and both were expressed at increased levels in erythroblasts. Their translation initiation is cap independent and starts from an internal ribosomal entry site, which appeared sensitive to knockdown of Rps19 or Diamond-Blackfan anemia (DBA) is associated with developmental defects and profound anemia. Mutations in genes encoding a ribosomal protein of the small (e.g., RPS19) or large (e.g., RPL11) ribosomal subunit are found in more than half of these patients. The mutations cause ribosomal haploinsufficiency, which reduces overall translation efficiency of cellular mRNAs. We reduced the expression of Rps19 or Rpl11 in mouse erythroblasts and investigated mRNA polyribosome association, which revealed deregulated translation initiation of specific transcripts. Among these were Bag1, encoding a Hsp70 cochaperone, and Csde1, encoding an RNA-binding protein, and both were expressed at increased levels in erythroblasts. Their translation initiation is cap independent and starts from an internal ribosomal entry site, which appeared sensitive to knockdown of Rps19 or (en)
Title	Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts (en)
skos:prefLabel	Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts (en)
skos:notation	RIV/61989592:15110/12:33141013!RIV13-MZ0-15110___
http://linked.open...avai/predkladatel	Lékařská fakulta
http://linked.open...avai/riv/aktivita	P V Z
http://linked.open...avai/riv/aktivity	P(NT11059), V, Z(MSM6198959205)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Pospíšilová, Dagmar
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Palackého v Olomouci / Lékařská fakulta
http://linked.open...dnocenehoVysledku	165559
http://linked.open...ai/riv/idVysledku	RIV/61989592:15110/12:33141013
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	RNA-binding protein; Diamond-Blackfan anemia; ribosomal haploinsufficiency (en)
http://linked.open.../riv/klicoveSlovo	Diamond-Blackfan anemia RNA-binding protein ribosomal haploinsufficiency
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[632D9334FAAB]
http://linked.open...i/riv/nazevZdroje	Blood
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Diamond-Blackfan anaemia: molecular-genetic analysis of ethiopathogenetic factors, analysis of their influence on prognosis and treatment.
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	119
http://linked.open...iv/tvurceVysledku	Pospíšilová, Dagmar Čmejla, R. Andrieu-Soler, Ch. Horos, R. Ijspeert, H. Lindern, M. Nieradka, A. Sendtner, M. Sendtner, R. Taskesen, E.
http://linked.open...n/vavai/riv/zamer	Studies of genes and molecular mechanisms involved in regulation of hematopoiesis, their clinical impact and targeted treatment
issn	0006-4971
number of pages	11 (xsd:int)
http://bibframe.org/vocab/doi	10.1182/blood-2011-06-358200
http://localhost/t...ganizacniJednotka	15110
is http://linked.open...avai/riv/vysledek of	Ribosomal deficiencies in Diamond-Blackfan anemia impair translation of transcripts essential for differentiation of murine and humanerythroblasts

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