Abnormal synthesis of mannose 1-phosphate derived carbohydrates in carbohydrate-deficient glycoprotein syndrome type I fibroblasts with phosphomannomutase deficiency

Glycobiology
C KörnerKurt von Figura

Abstract

In fibroblasts from five patients with carbohydrate-deficient glycoprotein syndrome type 1, the incorporation of [2-3H] mannose into mannose phosphates, GDP-mannose, GDP-fucose, dolichol-P-mannose, lipid-linked oligosaccharides, and glycoprotein fraction was determined. We observed a 3- to 5-fold reduction of incorporation of radioactivity into mannose 1-phosphate, GDP-mannose, GDP-fucose, dolichol-P-mannose, and nascent glycoproteins. The incorporation of radioactivity into mannose 6-phosphate was normal. The formation of lipid linked oligosaccharides was only slightly affected (</=20%), but their size was severely reduced, mostly containing five or fewer residues. As a consequence, truncated oligosaccharides were transferred to newly synthesized glycoproteins. The metabolic changes can be explained by a deficiency of phosphomannomutase activity, which was reduced to </=10% of control.

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Citations

Dec 25, 2010·The Journal of Biological Chemistry·Micha A HaeuptleThierry Hennet
Jul 19, 2006·Molecular and Cellular Biology·Christian ThielChristian Körner
Apr 29, 1998·The Journal of Clinical Investigation·R NiehuesT Marquardt
Nov 11, 1999·Proceedings of the National Academy of Sciences of the United States of America·W T Doerrler, M A Lehrman
Oct 28, 1998·Proceedings of the National Academy of Sciences of the United States of America·C KörnerK von Figura
Sep 18, 2012·Glycoconjugate Journal·Christian Thiel, Christian Körner
Jul 5, 2015·Journal of Inherited Metabolic Disease·Nastassja HimmelreichChristian Thiel
Oct 9, 2015·ACS Chemical Neuroscience·Arun Kumar Somavarapu, Kasper P Kepp
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Mar 11, 2009·Biochimica Et Biophysica Acta·Stephanie Grünewald
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Feb 20, 2004·American Journal of Human Genetics·Markus SchwarzChristian Körner
Mar 9, 2017·Chemical Research in Toxicology·Jie ZhaoZhonghong Gao
Dec 19, 2003·The Journal of Biological Chemistry·Jie Shang, Mark A Lehrman
Nov 20, 1998·The Journal of Pediatrics·H H Freeze
Oct 20, 2006·Bioorganic & Medicinal Chemistry Letters·Renaud HardréYves Le Merrer

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