PMID: 2106134Feb 1, 1990Paper

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

Proceedings of the National Academy of Sciences of the United States of America
E QuentinH Kresse

Abstract

A small proteoglycan that contains only a single dermatan sulfate chain is the main proteoglycan synthesized by skin fibroblasts. Fibroblasts from a patient with progeroidal appearance and symptoms of the Ehlers-Danlos syndrome have a reduced ability of converting the core protein of this proteoglycan into a mature glycosaminoglycan chain-bearing species. This abnormality is the consequence of a deficiency in galactosyltransferase I (xylosylprotein 4-beta-galactosyltransferase; EC 2.4.1.133), which catalyzes the second glycosyl transfer reaction in the assembly of the dermatan sulfate chain. The glycosaminoglycan-free core protein secreted by the patient's fibroblasts bears an unsubstituted xylose residue. The mutant enzyme is abnormally thermolabile. Preincubation of fibroblasts at 41 degrees C leads to a further reduction in the production of mature proteoglycan and affects the capacity for glycosaminoglycan synthesis on p-nitrophenyl beta-D-xyloside more strongly in the mutant than in control cells.

References

Jun 1, 1976·Analytical Biochemistry·L P Nelles, J R Bamburg
Oct 1, 1986·Proceedings of the National Academy of Sciences of the United States of America·T Krusius, E Ruoslahti
May 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·J D EskoW H Taylor
Feb 4, 1974·Biochemical and Biophysical Research Communications·N B SchwartzA Dorfman
Jan 30, 1981·Biochemical and Biophysical Research Communications·P A MourãoP V Donnelly

❮ Previous
Next ❯

Citations

Mar 10, 1993·Molecular and Cellular Biochemistry·M A Clark, A S Weiss
Oct 1, 1991·Current Opinion in Cell Biology·J D Esko
Apr 18, 2001·Trends in Cell Biology·M Aebi, T Hennet
Nov 20, 2002·Ageing Research Reviews·Marc Lewis
Oct 18, 2002·Traffic·Meir Aridor, Lisa A Hannan
May 25, 2013·Human Molecular Genetics·Thomas MüllerAndreas R Janecke
Jun 29, 2011·Cold Spring Harbor Perspectives in Biology·Hudson H Freeze, Bobby G Ng
Jun 5, 2002·Annual Review of Biochemistry·Jeffrey D Esko, Scott B Selleck
Apr 5, 2003·Annual Review of Biochemistry·John B Lowe, Jamey D Marth
Jun 30, 2006·Annual Review of Cell and Developmental Biology·Hannes E Bülow, Oliver Hobert
Nov 10, 2001·Annual Review of Genomics and Human Genetics·J Jaeken, G Matthijs
May 1, 1995·Arteriosclerosis, Thrombosis, and Vascular Biology·K J Williams, I Tabas
Mar 1, 1992·The Journal of Clinical Investigation·J S AxfordI M Roitt
Jul 10, 2002·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·A CorsiM F Young
Apr 20, 2011·Reproduction : the Official Journal of the Society for the Study of Fertility·Megan L CalmusBeatrice E Lechner
Oct 22, 2014·Proceedings of the National Academy of Sciences of the United States of America·Jianzhong WenJack E Dixon
May 15, 1993·Experientia·H KresseE Schönherr
Mar 5, 2013·The Journal of Biological Chemistry·Shuji MizumotoKazuyuki Sugahara
Jul 3, 2003·Médecine sciences : M/S·Agnès FichardFlorence Ruggiero
Dec 23, 2015·Journal of Inherited Metabolic Disease·Florin SasarmanPierre Allard
Nov 17, 2012·The Journal of Investigative Dermatology·Peter H Byers, Mitzi L Murray
Aug 16, 2014·BioMed Research International·Shuji MizumotoKazuyuki Sugahara
Feb 22, 2012·Biochimica Et Biophysica Acta·Thierry Hennet
Jul 5, 2008·Annales de dermatologie et de vénéréologie·O DereureB Guillot
Feb 28, 2013·The FEBS Journal·Martin A ThelinAnders Malmstrom
Feb 23, 2012·Clinical Genetics·A De Paepe, F Malfait

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