Literature DB >> 16534119

NCAM is hyposialylated in hereditary inclusion body myopathy due to GNE mutations.

E Ricci1, A Broccolini, T Gidaro, R Morosetti, C Gliubizzi, R Frusciante, G M Di Lella, P A Tonali, M Mirabella.   

Abstract

The authors found that the neural cell adhesion molecule (NCAM) is hyposialylated in hereditary inclusion body myopathy (HIBM) muscle, as suggested by its decreased molecular weight by Western blot. This abnormality represented the only pathologic feature differentiating HIBM due to GNE mutations from other myopathies with similar clinical and pathologic characteristics. If further confirmed in larger series of patients, this may be a useful diagnostic marker of GNE-related HIBM.

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Year:  2006        PMID： 16534119     DOI： 10.1212/01.wnl.0000200956.76449.3f

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  35 in total

1.  Hereditary inclusion body myopathy: single patient response to intravenous dosing of GNE gene lipoplex.

Authors:  Gregory Nemunaitis; Chris M Jay; Phillip B Maples; William A Gahl; Marjan Huizing; Tal Yardeni; Alex W Tong; Anagha P Phadke; Beena O Pappen; Cynthia Bedell; Henry Allen; Cathy Hernandez; Nancy S Templeton; Joseph Kuhn; Neil Senzer; John Nemunaitis
Journal:  Hum Gene Ther       Date:  2011-04-25       Impact factor: 5.695

2.  Metabolic flux increases glycoprotein sialylation: implications for cell adhesion and cancer metastasis.

Authors:  Ruben T Almaraz; Yuan Tian; Rahul Bhattarcharya; Elaine Tan; Shih-Hsun Chen; Matthew R Dallas; Li Chen; Zhen Zhang; Hui Zhang; Konstantinos Konstantopoulos; Kevin J Yarema
Journal:  Mol Cell Proteomics       Date:  2012-03-28       Impact factor: 5.911

3.  Clinical features, lectin staining, and a novel GNE frameshift mutation in hereditary inclusion body myopathy.

Authors:  N C Voermans; M Guillard; R Doedée; M Lammens; M Huizing; G W Padberg; R A Wevers; B G van Engelen; D J Lefeber
Journal:  Clin Neuropathol       Date:  2010 Mar-Apr       Impact factor: 1.368

4.  Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy.

Authors:  Teresa Gidaro; Harmen Reyngoudt; Julien Le Louër; Anthony Behin; Ferial Toumi; Melanie Villeret; Ericky C A Araujo; Pierre-Yves Baudin; Benjamin Marty; Melanie Annoussamy; Jean-Yves Hogrel; Pierre G Carlier; Laurent Servais
Journal:  J Neurol       Date:  2019-10-15       Impact factor: 4.849

5.  Activation of the Unfolded Protein Response in Sporadic Inclusion-Body Myositis but Not in Hereditary GNE Inclusion-Body Myopathy.

Authors:  Anna Nogalska; Carla D'Agostino; W King Engel; Mafalda Cacciottolo; Shinichi Asada; Kazutoshi Mori; Valerie Askanas
Journal:  J Neuropathol Exp Neurol       Date:  2015-06       Impact factor: 3.685

6.  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

7.  Variable phenotypes of knockin mice carrying the M712T Gne mutation.

Authors:  Ilan Sela; Lena Yakovlev; Michal Becker Cohen; Moran Elbaz; Nurit Yanay; Uri Ben Shlomo; Hagit Yotvat; Yakov Fellig; Zohar Argov; Stella Mitrani-Rosenbaum
Journal:  Neuromolecular Med       Date:  2012-12-13       Impact factor: 3.843

8.  Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.

Authors:  Thomas Paccalet; Zoé Coulombe; Jacques P Tremblay
Journal:  PLoS One       Date:  2010-04-07       Impact factor: 3.240

9.  Safety and in vivo expression of a GNE-transgene: a novel treatment approach for hereditary inclusion body myopathy-2.

Authors:  Anagha P Phadke; Chris Jay; Salina J Chen; Courtney Haddock; Zhaohui Wang; Yang Yu; Derek Nemunaitis; Gregory Nemunaitis; Nancy S Templeton; Neil Senzer; Phillip B Maples; Alex W Tong; John Nemunaitis
Journal:  Gene Regul Syst Bio       Date:  2009-05-08

10.  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
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