Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice

Kowalewski B, Lamanna WC, Lawrence R, Damme M, Padva M, Stroobants S, Kalus I, Frese M-A, Lübke T, Lüllmann-Rauch R, D'Hooge R, et al. (2012)
Proc. Natl. Acad. Sci. USA 109(26): 10310-10315.

Zeitschriftenaufsatz | Veröffentlicht | Englisch
 
Download
Es wurden keine Dateien hochgeladen. Nur Publikationsnachweis!
DOI
Autor*in
Kowalewski, BjörnUniBi; Lamanna, William Christopher; Lawrence, Roger; Damme, MarkusUniBi; Padva, Michael; Stroobants, Stijn; Kalus, InaUniBi; Frese, Marc-André; Lübke, TorbenUniBi ; Lüllmann-Rauch, Renate; D'Hooge, Rudi; Esko, Jeffrey D
Alle
Einrichtung
Fakultät für Chemie > Biochemie I
Centrum für Biotechnologie > Arbeitsgruppe T. Dierks
Erscheinungsjahr
2012
Zeitschriftentitel
Proc. Natl. Acad. Sci. USA
Band
109
Ausgabe
26
Seite(n)
10310-10315
ISSN
0027-8424
eISSN
1091-6490
Page URI
https://pub.uni-bielefeld.de/record/2494022

Zitieren

Kowalewski B, Lamanna WC, Lawrence R, et al. Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice. Proc. Natl. Acad. Sci. USA. 2012;109(26):10310-10315.
Kowalewski, B., Lamanna, W. C., Lawrence, R., Damme, M., Padva, M., Stroobants, S., Kalus, I., et al. (2012). Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice. Proc. Natl. Acad. Sci. USA, 109(26), 10310-10315. doi:10.1073/pnas.1202071109
Kowalewski, Björn, Lamanna, William Christopher, Lawrence, Roger, Damme, Markus, Padva, Michael, Stroobants, Stijn, Kalus, Ina, et al. 2012. “Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice”. Proc. Natl. Acad. Sci. USA 109 (26): 10310-10315.
Kowalewski, B., Lamanna, W. C., Lawrence, R., Damme, M., Padva, M., Stroobants, S., Kalus, I., Frese, M. - A., Lübke, T., Lüllmann-Rauch, R., et al. (2012). Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice. Proc. Natl. Acad. Sci. USA 109, 10310-10315.
Kowalewski, B., et al., 2012. Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice. Proc. Natl. Acad. Sci. USA, 109(26), p 10310-10315.
B. Kowalewski, et al., “Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice”, Proc. Natl. Acad. Sci. USA, vol. 109, 2012, pp. 10310-10315.
Kowalewski, B., Lamanna, W.C., Lawrence, R., Damme, M., Padva, M., Stroobants, S., Kalus, I., Frese, M.-A., Lübke, T., Lüllmann-Rauch, R., D'Hooge, R., Esko, J.D., Dierks, T.: Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice. Proc. Natl. Acad. Sci. USA. 109, 10310-10315 (2012).
Kowalewski, Björn, Lamanna, William Christopher, Lawrence, Roger, Damme, Markus, Padva, Michael, Stroobants, Stijn, Kalus, Ina, Frese, Marc-André, Lübke, Torben, Lüllmann-Rauch, Renate, D'Hooge, Rudi, Esko, Jeffrey D, and Dierks, Thomas. “Arylsulfatase G Inactivation Causes Loss of Heparan Sulfate 3-O-Sulfatase Activity and Mucopolysaccharidosis in Mice”. Proc. Natl. Acad. Sci. USA 109.26 (2012): 10310-10315.

23 Zitationen in Europe PMC

Daten bereitgestellt von Europe PubMed Central.

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.
Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C, Sharon D., Genet Med 20(9), 2018
PMID: 29300381
Genetics and pathophysiology of mammalian sulfate biology.
Langford R, Hurrion E, Dawson PA., J Genet Genomics 44(1), 2017
PMID: 28063738
The function of heparan sulfate during branching morphogenesis.
Patel VN, Pineda DL, Hoffman MP., Matrix Biol 57-58(), 2017
PMID: 27609403
Arylsulfatase K is the Lysosomal 2-Sulfoglucuronate Sulfatase.
Dhamale OP, Lawrence R, Wiegmann EM, Shah BA, Al-Mafraji K, Lamanna WC, Lübke T, Dierks T, Boons GJ, Esko JD., ACS Chem Biol 12(2), 2017
PMID: 28055182
Neurodevelopmental Changes in Excitatory Synaptic Structure and Function in the Cerebral Cortex of Sanfilippo Syndrome IIIA Mice.
Dwyer CA, Scudder SL, Lin Y, Dozier LE, Phan D, Allen NJ, Patrick GN, Esko JD., Sci Rep 7(), 2017
PMID: 28418018
GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB.
Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML., J Vet Intern Med 31(5), 2017
PMID: 28833537
Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.
Katz ML, Rustad E, Robinson GO, Whiting REH, Student JT, Coates JR, Narfstrom K., Neurobiol Dis 108(), 2017
PMID: 28860089
Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?
Verbeek DS, Gasser T., Front Neurol 7(), 2016
PMID: 28138320
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
Faller KM, Bras J, Sharpe SJ, Anderson GW, Darwent L, Kun-Rodrigues C, Alroy J, Penderis J, Mole SE, Gutierrez-Quintana R, Guerreiro RJ., J Neurosci Res 94(4), 2016
PMID: 26762174
From bedside to cell biology: a century of history on lysosomal dysfunction.
Coutinho MF, Matos L, Alves S., Gene 555(1), 2015
PMID: 25275857
Ataxia is the major neuropathological finding in arylsulfatase G-deficient mice: similarities and dissimilarities to Sanfilippo disease (mucopolysaccharidosis type III).
Kowalewski B, Heimann P, Ortkras T, Lüllmann-Rauch R, Sawada T, Walkley SU, Dierks T, Damme M., Hum Mol Genet 24(7), 2015
PMID: 25452429
Sanfilippo syndrome: causes, consequences, and treatments.
Fedele AO., Appl Clin Genet 8(), 2015
PMID: 26648750
Glycan-based biomarkers for mucopolysaccharidoses.
Lawrence R, Brown JR, Lorey F, Dickson PI, Crawford BE, Esko JD., Mol Genet Metab 111(2), 2014
PMID: 23958290
Heparan sulfate 3-O-sulfation: a rare modification in search of a function.
Thacker BE, Xu D, Lawrence R, Esko JD., Matrix Biol 35(), 2014
PMID: 24361527
Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?
Lohmann K, Schmidt A, Schillert A, Winkler S, Albanese A, Baas F, Bentivoglio AR, Borngräber F, Brüggemann N, Defazio G, Del Sorbo F, Deuschl G, Edwards MJ, Gasser T, Gómez-Garre P, Graf J, Groen JL, Grünewald A, Hagenah J, Hemmelmann C, Jabusch HC, Kaji R, Kasten M, Kawakami H, Kostic VS, Liguori M, Mir P, Münchau A, Ricchiuti F, Schreiber S, Siegesmund K, Svetel M, Tijssen MA, Valente EM, Westenberger A, Zeuner KE, Zittel S, Altenmüller E, Ziegler A, Klein C., Mov Disord 29(7), 2014
PMID: 24375517
A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis.
Guo J, O'Brien DP, Mhlanga-Mutangadura T, Olby NJ, Taylor JF, Schnabel RD, Katz ML, Johnson GS., BMC Vet Res 10(), 2014
PMID: 25551667
Lysosomal diseases: diagnostic update.
Winchester B., J Inherit Metab Dis 37(4), 2014
PMID: 24711203
Hs3st3-modified heparan sulfate controls KIT+ progenitor expansion by regulating 3-O-sulfotransferases.
Patel VN, Lombaert IM, Cowherd SN, Shworak NW, Xu Y, Liu J, Hoffman MP., Dev Cell 29(6), 2014
PMID: 24960693
The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape.
Bodamer OA, Giugliani R, Wood T., Mol Genet Metab 113(1-2), 2014
PMID: 25127543
Molecular characterization of arylsulfatase G: expression, processing, glycosylation, transport, and activity.
Kowalewski B, Lübke T, Kollmann K, Braulke T, Reinheckel T, Dierks T, Damme M., J Biol Chem 289(40), 2014
PMID: 25135642
Development of cerebellar pathology in the canine model of mucopolysaccharidosis type IIIA (MPS IIIA).
Hassiotis S, Jolly RD, Hemsley KM., Mol Genet Metab 113(4), 2014
PMID: 25453402
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations.
Pollard LM, Jones JR, Wood TC., J Inherit Metab Dis 36(2), 2013
PMID: 22976768
Arylsulfatase K, a novel lysosomal sulfatase.
Wiegmann EM, Westendorf E, Kalus I, Pringle TH, Lübke T, Dierks T., J Biol Chem 288(42), 2013
PMID: 23986440

33 References

Daten bereitgestellt von Europe PubMed Central.

Lysosomal disorders: from storage to cellular damage.
Ballabio A, Gieselmann V., Biochim. Biophys. Acta 1793(4), 2008
PMID: 19111581
Common and uncommon pathogenic cascades in lysosomal storage diseases.
Vitner EB, Platt FM, Futerman AH., J. Biol. Chem. 285(27), 2010
PMID: 20430897
Sulfatases and human disease.
Diez-Roux G, Ballabio A., Annu Rev Genomics Hum Genet 6(), 2005
PMID: 16124866
Cerebroside 3-sulfate as a physiological substrate of arylsulfatase A.
Mehl E, Jatzkewitz H., Biochim. Biophys. Acta 151(3), 1968
PMID: 5646041
Metachromatic leukodystrophy
von K, Gieselmann V, Jaeken J., 2001
The mucopolysaccharidoses
Neufeld EF, Muenzer J., 2001
A sulfatase specific for glucuronic acid 2-sulfate residues in glycosaminoglycans.
Shaklee PN, Glaser JH, Conrad HE., J. Biol. Chem. 260(16), 1985
PMID: 4019466
A novel 3-O sulfatase from human urine acting on methyl-2-deoxy-2-sulfamino-alphs-D-glucopyranoside 3-sulfate.
Leder IG., Biochem. Biophys. Res. Commun. 94(4), 1980
PMID: 7396957
Arylsulfatase G, a novel lysosomal sulfatase.
Frese MA, Schulz S, Dierks T., J. Biol. Chem. 283(17), 2008
PMID: 18283100
A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis.
Abitbol M, Thibaud JL, Olby NJ, Hitte C, Puech JP, Maurer M, Pilot-Storck F, Hedan B, Dreano S, Brahimi S, Delattre D, Andre C, Gray F, Delisle F, Caillaud C, Bernex F, Panthier JJ, Aubin-Houzelstein G, Blot S, Tiret L., Proc. Natl. Acad. Sci. U.S.A. 107(33), 2010
PMID: 20679209
Secondary storage of dermatan sulfate in Sanfilippo disease.
Lamanna WC, Lawrence R, Sarrazin S, Esko JD., J. Biol. Chem. 286(9), 2010
PMID: 21193389
Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses.
Lawrence R, Brown JR, Al-Mafraji K, Lamanna WC, Beitel JR, Boons GJ, Esko JD, Crawford BE., Nat. Chem. Biol. 8(2), 2012
PMID: 22231271
Neuronal ceroid lipofuscinoses.
Jalanko A, Braulke T., Biochim. Biophys. Acta 1793(4), 2008
PMID: 19084560
Cerebellar alterations and gait defects as therapeutic outcome measures for enzyme replacement therapy in α-mannosidosis.
Damme M, Stroobants S, Walkley SU, Lullmann-Rauch R, D'Hooge R, Fogh J, Saftig P, Lubke T, Blanz J., J. Neuropathol. Exp. Neurol. 70(1), 2011
PMID: 21157375
Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders.
McGlynn R, Dobrenis K, Walkley SU., J. Comp. Neurol. 480(4), 2004
PMID: 15558784
Sanfilippo disease, type A with some features of ceroid lipofuscinosis.
Wisniewski K, Rudelli R, Laure-Kamionowska M, Sklower S, Houck GE Jr, Kieras F, Ramos P, Wisniewski HM, Braak H., Neuropediatrics 16(2), 1985
PMID: 3925366
Order out of chaos: assembly of ligand binding sites in heparan sulfate.
Esko JD, Selleck SB., Annu. Rev. Biochem. 71(), 2001
PMID: 12045103
Mouse model of Sanfilippo syndrome type B produced by targeted disruption of the gene encoding alpha-N-acetylglucosaminidase.
Li HH, Yu WH, Rozengurt N, Zhao HZ, Lyons KM, Anagnostaras S, Fanselow MS, Suzuki K, Vanier MT, Neufeld EF., Proc. Natl. Acad. Sci. U.S.A. 96(25), 1999
PMID: 10588735
Heparan sulfate D-glucosaminyl 3-O-sulfotransferase-3A sulfates N-unsubstituted glucosamine residues.
Liu J, Shriver Z, Blaiklock P, Yoshida K, Sasisekharan R, Rosenberg RD., J. Biol. Chem. 274(53), 1999
PMID: 10608887
Characterization of a heparan sulfate octasaccharide that binds to herpes simplex virus type 1 glycoprotein D.
Liu J, Shriver Z, Pope RM, Thorp SC, Duncan MB, Copeland RJ, Raska CS, Yoshida K, Eisenberg RJ, Cohen G, Linhardt RJ, Sasisekharan R., J. Biol. Chem. 277(36), 2002
PMID: 12080045
The heparin/heparan sulfate sequence that interacts with cyclophilin B contains a 3-O-sulfated N-unsubstituted glucosamine residue.
Vanpouille C, Deligny A, Delehedde M, Denys A, Melchior A, Lienard X, Lyon M, Mazurier J, Fernig DG, Allain F., J. Biol. Chem. 282(33), 2007
PMID: 17588944
A mouse model for mucopolysaccharidosis type III A (Sanfilippo syndrome).
Bhaumik M, Muller VJ, Rozaklis T, Johnson L, Dobrenis K, Bhattacharyya R, Wurzelmann S, Finamore P, Hopwood JJ, Walkley SU, Stanley P., Glycobiology 9(12), 1999
PMID: 10561464
Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB.
Ohmi K, Greenberg DS, Rajavel KS, Ryazantsev S, Li HH, Neufeld EF., Proc. Natl. Acad. Sci. U.S.A. 100(4), 2003
PMID: 12576554
Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA.
Crawley AC, Gliddon BL, Auclair D, Brodie SL, Hirte C, King BM, Fuller M, Hemsley KM, Hopwood JJ., Brain Res. 1104(1), 2006
PMID: 16828069
Open field locomotor activity and anxiety-related behaviors in mucopolysaccharidosis type IIIA mice.
Lau AA, Crawley AC, Hopwood JJ, Hemsley KM., Behav. Brain Res. 191(1), 2008
PMID: 18453006
Neurocognitive and psychotiform behavioral alterations and enhanced hippocampal long-term potentiation in transgenic mice displaying neuropathological features of human alpha-mannosidosis.
D'Hooge R, Lullmann-Rauch R, Beckers T, Balschun D, Schwake M, Reiss K, von Figura K, Saftig P., J. Neurosci. 25(28), 2005
PMID: 16014715
Molecular characterization and gene disruption of mouse lysosomal putative serine carboxypeptidase 1.
Kollmann K, Damme M, Deuschl F, Kahle J, D'Hooge R, Lullmann-Rauch R, Lubke T., FEBS J. 276(5), 2009
PMID: 19187242
Collagen--proteoglycan interactions. Localization of proteoglycans in tendon by electron microscopy.
Scott JE., Biochem. J. 187(3), 1980
PMID: 7188429
Conversion of cysteine to formylglycine: a protein modification in the endoplasmic reticulum.
Dierks T, Schmidt B, von Figura K., Proc. Natl. Acad. Sci. U.S.A. 94(22), 1997
PMID: 9342345
Turbidimetry of inorganic sulfate, ester sulfate, and total sulfur in urine.
Lundquist P, Martensson J, Sorbo B, Ohman S., Clin. Chem. 26(8), 1980
PMID: 7389089
[Effect of the injection of Triton WR 1339 on the hepatic lysosomes of the rat.]
WATTIAUX R, WIBO M, BAUDHUIN P., Arch. Int. Physiol. Biochim. 71(), 1963
PMID: 13999241
Special considerations for proteoglycans and glycosaminoglycans and their purification
Esko JD., 2001
Evolutionary differences in glycosaminoglycan fine structure detected by quantitative glycan reductive isotope labeling.
Lawrence R, Olson SK, Steele RE, Wang L, Warrior R, Cummings RD, Esko JD., J. Biol. Chem. 283(48), 2008
PMID: 18818196
Export

Markieren/ Markierung löschen
Markierte Publikationen

Open Data PUB

Web of Science

Dieser Datensatz im Web of Science®
Quellen

PMID: 22689975
PubMed | Europe PMC

Suchen in

Google Scholar