Literature DB >> 30115659

A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.

Alexandre Kauskot1, Tiffany Pascreau2,3, Frédéric Adam2, Arnaud Bruneel4, Christelle Reperant2, Marc-Damien Lourenco-Rodrigues2, Jean-Philippe Rosa2, Rachel Petermann5, Hélène Maurey6, Claire Auditeau7, Dominique Lasne2,3, Cécile V Denis2, Marijke Bryckaert2, Pascale de Lonlay8, Cécile Lavenu-Bombled2,7, Judith Melki9, Delphine Borgel2,3.   

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Year:  2018        PMID： 30115659      PMCID： PMC6269289          DOI： 10.3324/haematol.2018.198028

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  15 in total

1.  Macrothrombocytopenia with abnormal demarcation membranes in megakaryocytes and neutropenia with a complete lack of sialyl-Lewis-X antigen in leukocytes--a new syndrome?

Authors:  T B Willig; J Breton-Gorius; C Elbim; V Mignotte; C Kaplan; R Mollicone; C Pasquier; A Filipe; F Miélot; J P Cartron; M A Gougerot-Pocidalo; N Debili; J Guichard; J P Dommergues; N Mohandas; G Tchernia
Journal:  Blood       Date:  2001-02-01       Impact factor: 22.113

Review 2.  Glycosyltransferases. Structure, localization, and control of cell type-specific glycosylation.

Authors:  J C Paulson; K J Colley
Journal:  J Biol Chem       Date:  1989-10-25       Impact factor: 5.157

3.  A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene.

Authors:  Vladimir T Manchev; Morgane Hilpert; Eliane Berrou; Ziane Elaib; Achille Aouba; Siham Boukour; Sylvie Souquere; Gerard Pierron; Philippe Rameau; Robert Andrews; François Lanza; Regis Bobe; William Vainchenker; Jean-Philippe Rosa; Marijke Bryckaert; Najet Debili; Remi Favier; Hana Raslova
Journal:  Blood       Date:  2014-07-24       Impact factor: 22.113

4.  Identification of essential amino acid residues in the hydrophilic loop regions of the CMP-sialic acid transporter and UDP-galactose transporter.

Authors:  Kah Fai Chan; Peiqing Zhang; Zhiwei Song
Journal:  Glycobiology       Date:  2010-02-24       Impact factor: 4.313

5.  Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter.

Authors:  Ivan Martinez-Duncker; Thierry Dupré; Véronique Piller; Friedrich Piller; Jean-Jacques Candelier; Catherine Trichet; Gil Tchernia; Rafael Oriol; Rosella Mollicone
Journal:  Blood       Date:  2004-12-02       Impact factor: 22.113

6.  The Ashwell-Morell receptor regulates hepatic thrombopoietin production via JAK2-STAT3 signaling.

Authors:  Renata Grozovsky; Antonija Jurak Begonja; Kaifeng Liu; Gary Visner; John H Hartwig; Hervé Falet; Karin M Hoffmeister
Journal:  Nat Med       Date:  2014-12-08       Impact factor: 53.440

7.  A method and server for predicting damaging missense mutations.

Authors:  Ivan A Adzhubei; Steffen Schmidt; Leonid Peshkin; Vasily E Ramensky; Anna Gerasimova; Peer Bork; Alexey S Kondrashov; Shamil R Sunyaev
Journal:  Nat Methods       Date:  2010-04       Impact factor: 28.547

8.  CDG nomenclature: time for a change!

Authors:  Jaak Jaeken; Thierry Hennet; Gert Matthijs; Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09

9.  Intellectual disability and bleeding diathesis due to deficient CMP--sialic acid transport.

Authors:  Miski Mohamed; Angel Ashikov; Mailys Guillard; Joris H Robben; Samuel Schmidt; B van den Heuvel; Arjan P M de Brouwer; Rita Gerardy-Schahn; Peter M T Deen; Ron A Wevers; Dirk J Lefeber; Eva Morava
Journal:  Neurology       Date:  2013-07-19       Impact factor: 9.910

10.  Mutation in GNE is associated with severe congenital thrombocytopenia.

Authors:  Jane Futterer; Amanda Dalby; Gillian C Lowe; Ben Johnson; Michael A Simpson; Jayashree Motwani; Mike Williams; Steve P Watson; Neil V Morgan
Journal:  Blood       Date:  2018-06-25       Impact factor: 22.113
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  17 in total

Review 1.  Multifaceted role of glycosylation in transfusion medicine, platelets, and red blood cells.

Authors:  Melissa M Lee-Sundlov; Sean R Stowell; Karin M Hoffmeister
Journal:  J Thromb Haemost       Date:  2020-05-28       Impact factor: 5.824

Review 2.  Genetics of inherited thrombocytopenias.

Authors:  Julia T Warren; Jorge Di Paola
Journal:  Blood       Date:  2022-06-02       Impact factor: 25.476

Review 3.  Clinical impact of glycans in platelet and megakaryocyte biology.

Authors:  Hervé Falet; Leonardo Rivadeneyra; Karin M Hoffmeister
Journal:  Blood       Date:  2022-06-02       Impact factor: 25.476

4.  Cytidine Monophosphate N-Acetylneuraminic Acid Synthetase and Solute Carrier Family 35 Member A1 Are Required for Reovirus Binding and Infection.

Authors:  Kelly Urbanek; Danica M Sutherland; Robert C Orchard; Craig B Wilen; Jonathan J Knowlton; Pavithra Aravamudhan; Gwen M Taylor; Herbert W Virgin; Terence S Dermody
Journal:  J Virol       Date:  2020-12-22       Impact factor: 5.103

Review 5.  Inherited Platelet Disorders: An Updated Overview.

Authors:  Verónica Palma-Barqueros; Nuria Revilla; Ana Sánchez; Ana Zamora Cánovas; Agustín Rodriguez-Alén; Ana Marín-Quílez; José Ramón González-Porras; Vicente Vicente; María Luisa Lozano; José María Bastida; José Rivera
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

Review 6.  Circulating platelet count and glycans.

Authors:  Leonardo Rivadeneyra; Hervé Falet; Karin M Hoffmeister
Journal:  Curr Opin Hematol       Date:  2021-11-01       Impact factor: 3.284

Review 7.  Inherited thrombocytopenias: history, advances and perspectives.

Authors:  Alan T Nurden; Paquita Nurden
Journal:  Haematologica       Date:  2020-06-11       Impact factor: 9.941

Review 8.  Nucleotide Sugar Transporter SLC35 Family Structure and Function.

Authors:  Barbara Hadley; Thomas Litfin; Chris J Day; Thomas Haselhorst; Yaoqi Zhou; Joe Tiralongo
Journal:  Comput Struct Biotechnol J       Date:  2019-08-07       Impact factor: 7.271

9.  Molecular Interactions of the Polysialytransferase Domain (PSTD) in ST8Sia IV with CMP-Sialic Acid and Polysialic Acid Required for Polysialylation of the Neural Cell Adhesion Molecule Proteins: An NMR Study.

Authors:  Si-Ming Liao; Bo Lu; Xue-Hui Liu; Zhi-Long Lu; Shi-Jie Liang; Dong Chen; Frederic A Troy Ii; Ri-Bo Huang; Guo-Ping Zhou
Journal:  Int J Mol Sci       Date:  2020-02-26       Impact factor: 5.923

10.  Immune cells surveil aberrantly sialylated O-glycans on megakaryocytes to regulate platelet count.

Authors:  Melissa M Lee-Sundlov; Robert T Burns; Taylor O Kim; Renata Grozovsky; Silvia Giannini; Leonardo Rivadeneyra; Yongwei Zheng; Simon H Glabere; Walter H A Kahr; Reza Abdi; Jenny M Despotovic; Demin Wang; Karin M Hoffmeister
Journal:  Blood       Date:  2021-12-09       Impact factor: 22.113
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