Journal ArticleDOI
Nucleolar localization of RPS19 protein in normal cells and mislocalization due to mutations in the nucleolar localization signals in 2 Diamond-Blackfan anemia patients: potential insights into pathophysiology.
Lydie Da Costa,Gil Tchernia,Philippe Gascard,Annie Lo,Joerg J Meerpohl,Charlotte M. Niemeyer,Joel-Anne Chasis,Jason Fixler,Narla Mohandas +8 more
TLDR
The present findings enable us to document the nucleolar localization signals in RPS19 and help define the phenotypic consequences of some mutations in R PS19 in DBA.About:
This article is published in Blood.The article was published on 2003-06-15. It has received 75 citations till now. The article focuses on the topics: Cellular localization & Ribosomal protein S19.read more
Citations
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Journal ArticleDOI
Ribosomopathies: human disorders of ribosome dysfunction.
TL;DR: The p53 pathway provides a surveillance mechanism for protein translation as well as genome integrity and is activated by defects in ribosome biogenesis; this pathway appears to be a critical mediator of many of the clinical features of ribosomopathies.
Journal ArticleDOI
Protein localization in disease and therapy
Mien Chie Hung,Wolfgang Link +1 more
TL;DR: The concepts involved in the therapeutic restoration of disrupted physiological protein localization and therapeutic mislocalization as a strategy to inactivate disease-causing proteins are discussed.
Journal ArticleDOI
Impaired ribosome biogenesis in Diamond-Blackfan anemia
Valérie Choesmel,Daniel Bacqueville,Jacques Rouquette,Jacqueline Noaillac-Depeyre,Sébastien Fribourg,Aurore Cretien,Thierry Leblanc,Gil Tchernia,Lydie Da Costa,Pierre-Emmanuel Gleizes +9 more
TL;DR: The hypothesis that Diamond-Blackfan anemia is directly related to a defect in ribosome biogenesis is supported and yet to be discovered DBA-related genes may be involved in the synthesis of the ribosomal subunits.
Journal ArticleDOI
The Shwachman-Diamond SBDS protein localizes to the nucleolus
TL;DR: The intranucleolar localization of SBDS provides further supportive evidence for its postulated role in rRNA processing and adds further support to the growing body of evidence for additional gene(s) that might contribute to the pathogenesis of the disease phenotype.
Journal ArticleDOI
Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity.
TL;DR: A detailed family study was undertaken of patients notified to the UK Diamond Blackfan Anaemia (DBA) Registry as discussed by the authors, revealing evidence for a genotype:phenotype correlation with respect to the prevalence of physical anomalies, and the occurrence of mild or variable haematological severity.
References
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Journal ArticleDOI
A short amino acid sequence able to specify nuclear location
TL;DR: By reducing the size of the transposed sequence, it is concluded that Pro-Lys- lys- Lys-Arg-L Lys-Val can act as a nuclear location signal and may represent a prototype of similar sequences in other nuclear proteins.
Journal ArticleDOI
Nuclear targeting sequences--a consensus?
TL;DR: It is suggested in this review that, despite this diversity of nuclear targeting sequences, a consensus bipartite motif can be identified.
Journal ArticleDOI
Fluorescence detection in automated DNA sequence analysis
Lloyd M. Smith,Jane Z. Sanders,Robert J. Kaiser,Peter Hughes,Chris Dodd,Charles R. Connell,Cheryl Heiner,Stephen B. H. Kent,Leroy Hood +8 more
TL;DR: A method for the partial automation of DNA sequence analysis by means of a fluorophore covalently attached to the oligonucleotide primer used in enzymaticDNA sequence analysis.
Journal ArticleDOI
Two interdependent basic domains in nucleoplasmin nuclear targeting sequence: Identification of a class of bipartite nuclear targeting sequence
TL;DR: Point mutagenesis of the nuclear targeting sequence of nucleoplasmin has identified two interdependent basic domains separated by 10 intervening "spacer" amino acids that tolerate point mutations and some insertions.
Journal ArticleDOI
Sequence requirements for nuclear location of simian virus 40 large-T antigen.
TL;DR: A point mutation in the simian virus 40 large-T gene, which was generated by mixed oligonucleotide mutagenesis and resulted in the conversion of Lys 128 to Thr, produced a large- T antigen that was detected in the cytoplasm but not the nucleus of cells.
Related Papers (5)
Mutations in Ribosomal Protein S19 Gene and Diamond Blackfan Anemia: Wide Variations in Phenotypic Expression
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Hanna T. Gazda,Agnieszka Grabowska,Lilia B. Merida-Long,Elzbieta Latawiec,Hal E. Schneider,Jeffrey M. Lipton,Adrianna Vlachos,Eva Atsidaftos,Sarah E. Ball,Karen A. Orfali,Edyta Niewiadomska,Lydie Da Costa,Gil Tchernia,Charlotte M. Niemeyer,Joerg J Meerpohl,Joachim Stahl,Gerhard Schratt,Gerhard Schratt,Bertil Glader,Karen Backer,Carolyn Wong,David G. Nathan,Alan H. Beggs,Colin A. Sieff +23 more