Mannose phosphorylation in health and disease

European Journal of Cell Biology
Katrin KollmannThomas Braulke

Abstract

Lysosomal hydrolases catalyze the degradation of a variety of macromolecules including proteins, carbohydrates, nucleic acids and lipids. The biogenesis of lysosomes or lysosome-related organelles requires a continuous substitution of soluble acid hydrolases and lysosomal membrane proteins. The targeting of lysosomal hydrolases depends on mannose 6-phosphate residues (M6P) that are recognized by specific receptors mediating their transport to an endosomal/prelysosomal compartment. The key role in the formation of M6P residues plays the GlcNAc-1-phosphotransferase localized in the Golgi apparatus. Two genes have been identified recently encoding the type III alpha/beta-subunit precursor membrane protein and the soluble gamma-subunit of GlcNAc-1-phosphotransferase. Mutations in these genes result in two severe diseases, mucolipidosis type II (MLII) and III (MLIII), biochemically characterized by the missorting of multiple lysosomal hydrolases due to impaired formation of the M6P recognition marker, and general lysosomal dysfunction. This review gives an update on structural properties, localization and functions of the GlcNAc-1-phosphotransferase subunits and improvements of pre- and postnatal diagnosis of ML patients. Further, t...Continue Reading

References

May 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·A KaplanW S Sly
Sep 1, 1979·Proceedings of the National Academy of Sciences of the United States of America·M R NatowiczW S Sly
May 24, 1991·Science·A LupasJ Stock
Feb 27, 1971·Lancet·J LightbodyN Herschkowitz
Nov 15, 1972·Biochemical and Biophysical Research Communications·S Hickman, E F Neufeld
Dec 1, 1980·Proceedings of the National Academy of Sciences of the United States of America·A HasilikK von Figura
Jan 1, 1996·Veterinary Pathology·N U BosshardR Gitzelmann
Sep 1, 1996·The Journal of Small Animal Practice·M HublerK von Figura
Mar 10, 1997·Journal of the Neurological Sciences·F UmeharaM Osame
Mar 11, 2000·The Journal of Clinical Investigation·A Raas-RothschildW M Canfield
Mar 14, 2002·American Journal of Medical Genetics·Anna Tylki-SzymańskaAgnieszka Ługowska
Jan 28, 2004·Cell·Juan S Bonifacino, Benjamin S Glick
Apr 25, 2006·Molecular Genetics and Metabolism·Ruth BargalAnnick Raas-Rothschild
Mar 30, 2007·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·Markus W WendelerHans-Peter Hauri
Jan 19, 2008·American Journal of Medical Genetics. Part a·Sara S CatheyVictor A McKusick
Oct 1, 2008·Biochimica Et Biophysica Acta·Frances M Platt, Robin H Lachmann
Dec 3, 2008·Biochimica Et Biophysica Acta·Thomas Braulke, Juan S Bonifacino
Jan 22, 2009·Annals of the New York Academy of Sciences·Izelle SmutsFrancois Hendrikus van der Westhuizen
Mar 6, 2009·Veterinary Pathology·P VogelS Kornfeld
Jul 21, 2009·Journal of Medical Genetics·S S CatheyM J Friez
Oct 17, 2009·The American Journal of Pathology·Heather Flanagan-SteetRichard Steet

❮ Previous
Next ❯

Citations

Jun 23, 2012·Nature Reviews. Molecular Cell Biology·Kelley W MoremenAlison V Nairn
Oct 1, 2011·The Journal of Biological Chemistry·Wang-Sik LeeStuart Kornfeld
Feb 18, 2011·Molecular Biology of the Cell·Marielle BoonenStuart Kornfeld
Sep 11, 2012·Brain : a Journal of Neurology·K KollmannT Braulke
Jun 29, 2011·Cold Spring Harbor Perspectives in Biology·Hudson H Freeze, Bobby G Ng
Sep 11, 2012·American Journal of Physiology. Gastrointestinal and Liver Physiology·Anna S Gukovskaya, Ilya Gukovsky
Oct 16, 2013·EMBO Molecular Medicine·Katrin KollmannThorsten Schinke
Aug 24, 2010·Neuromolecular Medicine·Matthias Eckhardt
Jul 15, 2015·Membranes·Stine C KlingerMorten S Nielsen
Jan 24, 2012·Molecular Genetics and Metabolism·Maria Francisca CoutinhoSandra Alves
Mar 13, 2016·Biochimica Et Biophysica Acta·Joanne ChiaFrederic Bard
Mar 10, 2016·Cellular and Molecular Life Sciences : CMLS·H-J GabiusH Kaltner
Feb 12, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Kimitoshi NakamuraFumio Endo
Sep 26, 2015·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Heather Flanagan-SteetRichard Steet
Jan 7, 2014·Molecular Genetics and Metabolism·Ashley GonzalezNahid Tayebi
Sep 21, 2013·Ultrastructural Pathology·Michaela SchweizerKatrin Kollmann
Dec 31, 2016·International Journal of Molecular Sciences·Catherine StaudtMarielle Boonen
Aug 4, 2018·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Sandra PohlThorsten Schinke
Jan 22, 2014·Diagnostic Pathology·Hans-Joachim Gabius, Klaus Kayser
Aug 10, 2018·Journal of Neurochemistry·Lakshya BajajMarco Sardiello
Aug 20, 2014·The Journal of Biological Chemistry·Björn KowalewskiMarkus Damme
Jan 24, 2020·The Journal of Biological Chemistry·Jorick VanbeselaereKatharina Paschinger
Jul 8, 2020·International Journal of Molecular Sciences·Peter T A LindersGeert van den Bogaart
Sep 5, 2020·International Journal of Molecular Sciences·Marisa EncarnaçãoSandra Alves
Jul 21, 2017·The Journal of Biological Chemistry·Megan Aarnio-PetersonRichard Steet
Jul 10, 2020·Journal of the American Society of Nephrology : JASN·Wiebke SachsCatherine Meyer-Schwesinger
Sep 28, 2017·Pediatric Rheumatology Online Journal·Abdelali ZrhidriAbdelaziz Sefiani
Mar 11, 2020·Disease Models & Mechanisms·Kristin M AtesY Albert Pan
Feb 24, 2016·Glycoconjugate Journal·Katharina Paschinger, Iain B H Wilson
Mar 19, 2020·Journal of Clinical Medicine·Luise Sophie AmmerSandra Rafaela Breyer
Oct 30, 2020·The Biochemical Journal·Torben Lübke, Markus Damme

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.