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

Neurology
Enzo RicciMassimiliano 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.

Citations

Jan 11, 2012·Journal of Neurology·Giorgio TascaAldobrando Broccolini
Nov 21, 2008·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Zohar Argov, Stella Mitrani-Rosenbaum
Dec 19, 2013·PloS One·Frank HanischRüdiger Horstkorte
Aug 16, 2014·Biomarkers in Medicine·Petcharat LeoyklangMarjan Huizing
Oct 24, 2008·Current Opinion in Rheumatology·Michael J Garlepp, Frank L Mastaglia
Dec 15, 2012·Neuromolecular Medicine·Ilan SelaStella Mitrani-Rosenbaum
Sep 5, 2008·Current Opinion in Neurology·May Christine V MalicdanIchizo Nishino
Mar 20, 2010·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Marina GrandisAngelo Schenone
Nov 6, 2012·Molecular Genetics and Metabolism·Terren K NiethamerMarjan Huizing
May 15, 2015·European Journal of Human Genetics : EJHG·Alireza HaghighiRuth Kornreich
May 16, 2015·Journal of Neuropathology and Experimental Neurology·Anna NogalskaValerie Askanas
Jan 2, 2016·Biochimica Et Biophysica Acta·Anke P WillemsDirk J Lefeber
Jul 21, 2009·Muscle & Nerve·Aldobrando BroccoliniMassimiliano Mirabella
Apr 6, 2013·Muscle & Nerve·Huaying CaiHidenao Sasaki
May 7, 2014·Human Mutation·Frank V CelesteMarjan Huizing
May 5, 2010·The Journal of Gene Medicine·Gregory NemunaitisJohn Nemunaitis
Jan 31, 2007·BMC Neurology·Susan SparksWilliam A Gahl
Jul 15, 2009·Biochimica Et Biophysica Acta·Marjan Huizing, Donna M Krasnewich
Aug 26, 2014·Biochimica Et Biophysica Acta·Aldobrando Broccolini, Massimiliano Mirabella
Apr 21, 2017·The Journal of Biological Chemistry·Nam D PhamJennifer J Kohler
Mar 30, 2012·Molecular & Cellular Proteomics : MCP·Ruben T AlmarazKevin J Yarema
Apr 1, 2018·Muscle & Nerve·Petcharat LeoyklangMay Christine Malicdan
Oct 20, 2018·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Nuria CarrilloMarjan Huizing
Nov 21, 2019·Neurology India·Kapila AwasthiSudha Bhattacharya
May 29, 2019·Journal of Clinical Neuromuscular Disease·Shri K MishraRobert Freundlich
Oct 31, 2018·Frontiers in Neuroscience·Shreedarshanee DeviRanjana Arya
Oct 20, 2009·Gene Regulation and Systems Biology·Anagha P PhadkeJohn Nemunaitis
Jan 8, 2010·Gene Regulation and Systems Biology·Chris M JayJohn Nemunaitis
Apr 6, 2021·Frontiers in Cell and Developmental Biology·Shamulailatpam Shreedarshanee DeviRanjana Arya
Jul 15, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nuria CarrilloWilliam A Gahl

❮ Previous
Next ❯

Related Concepts

Related Feeds

Cell Adhesion Molecules in the Brain

Cell adhesion molecules found on cell surface help cells bind with other cells or the extracellular matrix to maintain structure and function. Here is the latest research on their role in the brain.

Related Papers

Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics
Zohar Argov, Stella Mitrani-Rosenbaum
© 2021 Meta ULC. All rights reserved