Literature DB >> 16762577

Normal sialylation of serum N-linked and O-GalNAc-linked glycans in hereditary inclusion-body myopathy.

Paul J M Savelkoul, Irini Manoli, Susan E Sparks, Carla Ciccone, William A Gahl, Donna M Krasnewich, Marjan Huizing.   

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Year:  2006        PMID： 16762577     DOI： 10.1016/j.ymgme.2006.04.011

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


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  9 in total

1.  Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.

Authors:  Petcharat Leoyklang; May Christine Malicdan; Tal Yardeni; Frank Celeste; Carla Ciccone; Xueli Li; Rong Jiang; William A Gahl; Nuria Carrillo-Carrasco; Miao He; Marjan Huizing
Journal:  Biomark Med       Date:  2014       Impact factor: 2.851

Review 2.  Hereditary inclusion body myopathy: a decade of progress.

Authors:  Marjan Huizing; Donna M Krasnewich
Journal:  Biochim Biophys Acta       Date:  2009-07-24

3.  Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.

Authors:  Terren K Niethamer; Tal Yardeni; Petcharat Leoyklang; Carla Ciccone; Adrian Astiz-Martinez; Katherine Jacobs; Heidi M Dorward; Patricia M Zerfas; William A Gahl; Marjan Huizing
Journal:  Mol Genet Metab       Date:  2012-10-18       Impact factor: 4.797

Review 4.  GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.

Authors:  Nuria Carrillo; May C Malicdan; Marjan Huizing
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

5.  Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Authors:  F Mochel; F Sedel; A Vanderver; U F H Engelke; J Barritault; B Z Yang; B Kulkarni; D R Adams; F Clot; J H Ding; C R Kaneski; F W Verheijen; B W Smits; F Seguin; A Brice; M T Vanier; M Huizing; R Schiffmann; A Durr; R A Wevers
Journal:  Brain       Date:  2009-01-19       Impact factor: 13.501

Review 6.  UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.

Authors:  Stephan Hinderlich; Wenke Weidemann; Tal Yardeni; Rüdiger Horstkorte; Marjan Huizing
Journal:  Top Curr Chem       Date:  2015

7.  Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.

Authors:  Susan Sparks; Goran Rakocevic; Galen Joe; Irini Manoli; Joseph Shrader; Michael Harris-Love; Barbara Sonies; Carla Ciccone; Heidi Dorward; Donna Krasnewich; Marjan Huizing; Marinos C Dalakas; William A Gahl
Journal:  BMC Neurol       Date:  2007-01-29       Impact factor: 2.474

8.  Enhanced hepatic clearance of hyposialylated platelets explains thrombocytopenia in GNE-related macrothrombocytopenia.

Authors:  Tessa Noordermeer; Ivar van Asten; Roger E G Schutgens; Anke J Lakerveld; Cornelis A Koekman; Kay Y Hage; Silvie A E Sebastian; Albert Huisman; Dave J van den Heuvel; Hans C Gerritsen; Suzanne J A Korporaal; Marc Bierings; Jasper J van der Smagt; Mariëlle E van Gijn; Rolf T Urbanus
Journal:  Blood Adv       Date:  2022-06-14

9.  Hereditary Inclusion Body Myopathy (HIBM2).

Authors:  Chris M Jay; Nick Levonyak; Gregory Nemunaitis; Phillip B Maples; John Nemunaitis
Journal:  Gene Regul Syst Bio       Date:  2009-10-21
  9 in total

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