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Association between mucopolysaccharidosis Type VII and hydrops fetalis.

Holtz M, Montaño AM, Sly WS.

Ultrasound Obstet Gynecol. 2019 Jun 10. doi: 10.1002/uog.20371. [Epub ahead of print]


Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity.

Schmiesing J, Storch S, Dörfler AC, Schweizer M, Makrypidi-Fraune G, Thelen M, Sylvester M, Gieselmann V, Meyer-Schwesinger C, Koch-Nolte F, Tidow H, Mühlhausen C, Waheed A, Sly WS, Braulke T.

Cell Rep. 2018 Sep 11;24(11):2946-2956. doi: 10.1016/j.celrep.2018.08.014.


Intrinsic thermodynamics of high affinity inhibitor binding to recombinant human carbonic anhydrase IV.

Mickevičiūtė A, Timm DD, Gedgaudas M, Linkuvienė V, Chen Z, Waheed A, Michailovienė V, Zubrienė A, Smirnov A, Čapkauskaitė E, Baranauskienė L, Jachno J, Revuckienė J, Manakova E, Gražulis S, Matulienė J, Di Cera E, Sly WS, Matulis D.

Eur Biophys J. 2018 Apr;47(3):271-290. doi: 10.1007/s00249-017-1256-0. Epub 2017 Oct 3.


Role of carbonic anhydrases in skin wound healing.

Barker H, Aaltonen M, Pan P, Vähätupa M, Kaipiainen P, May U, Prince S, Uusitalo-Järvinen H, Waheed A, Pastoreková S, Sly WS, Parkkila S, Järvinen TA.

Exp Mol Med. 2017 May 19;49(5):e334. doi: 10.1038/emm.2017.60.


Carbonic anhydrase XII functions in health and disease.

Waheed A, Sly WS.

Gene. 2017 Aug 5;623:33-40. doi: 10.1016/j.gene.2017.04.027. Epub 2017 Apr 19. Review.


Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).

Whyte MP, McAlister WH, Fallon MD, Pierpont ME, Bijanki VN, Duan S, Otaify GA, Sly WS, Mumm S.

J Bone Miner Res. 2017 Apr;32(4):757-769. doi: 10.1002/jbmr.3034. Epub 2016 Dec 14.


Carbonic anhydrase enzymes II, VII, IX and XII in colorectal carcinomas.

Viikilä P, Kivelä AJ, Mustonen H, Koskensalo S, Waheed A, Sly WS, Pastorek J, Pastorekova S, Parkkila S, Haglund C.

World J Gastroenterol. 2016 Sep 28;22(36):8168-77. doi: 10.3748/wjg.v22.i36.8168.


Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.

Lee M, Vecchio-Pagán B, Sharma N, Waheed A, Li X, Raraigh KS, Robbins S, Han ST, Franca AL, Pellicore MJ, Evans TA, Arcara KM, Nguyen H, Luan S, Belchis D, Hertecant J, Zabner J, Sly WS, Cutting GR.

Hum Mol Genet. 2016 May 15;25(10):1923-1933. Epub 2016 Feb 23.


Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS.

J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23.


Pharmacologic manipulation of lysosomal enzyme transport across the blood-brain barrier.

Urayama A, Grubb JH, Sly WS, Banks WA.

J Cereb Blood Flow Metab. 2016 Mar;36(3):476-86. doi: 10.1177/0271678X15614589. Epub 2015 Nov 3.


Alpha Adrenergic Induction of Transport of Lysosomal Enzyme across the Blood-Brain Barrier.

Urayama A, Dohgu S, Robinson SM, Sly WS, Grubb JH, Banks WA.

PLoS One. 2015 Nov 6;10(11):e0142347. doi: 10.1371/journal.pone.0142347. eCollection 2015.


Normal Fertility Requires the Expression of Carbonic Anhydrases II and IV in Sperm.

Wandernoth PM, Mannowetz N, Szczyrba J, Grannemann L, Wolf A, Becker HM, Sly WS, Wennemuth G.

J Biol Chem. 2015 Dec 4;290(49):29202-16. doi: 10.1074/jbc.M115.698597. Epub 2015 Oct 20.


Large scale analysis of the mutational landscape in β-glucuronidase: A major player of mucopolysaccharidosis type VII.

Khan FI, Shahbaaz M, Bisetty K, Waheed A, Sly WS, Ahmad F, Hassan MI.

Gene. 2016 Jan 15;576(1 Pt 1):36-44. doi: 10.1016/j.gene.2015.09.062. Epub 2015 Sep 28.


Correction: High Resolution Crystal Structure of Human β-Glucuronidase Reveals Structural Basis of Lysosome Targeting.

Hassan MI, Waheed A, Grubb JH, Klei HE, Korolev S, Sly WS.

PLoS One. 2015 Sep 14;10(9):e0138401. doi: 10.1371/journal.pone.0138401. eCollection 2015. No abstract available.


Therapies for the bone in mucopolysaccharidoses.

Tomatsu S, Alméciga-Díaz CJ, Montaño AM, Yabe H, Tanaka A, Dung VC, Giugliani R, Kubaski F, Mason RW, Yasuda E, Sawamoto K, Mackenzie W, Suzuki Y, Orii KE, Barrera LA, Sly WS, Orii T.

Mol Genet Metab. 2015 Feb;114(2):94-109. doi: 10.1016/j.ymgme.2014.12.001. Epub 2014 Dec 9. Review.


First human treatment with investigational rhGUS enzyme replacement therapy in an advanced stage MPS VII patient.

Fox JE, Volpe L, Bullaro J, Kakkis ED, Sly WS.

Mol Genet Metab. 2015 Feb;114(2):203-8. doi: 10.1016/j.ymgme.2014.10.017. Epub 2014 Nov 7.


Morquio A syndrome: diagnosis and current and future therapies.

Tomatsu S, Yasuda E, Patel P, Ruhnke K, Shimada T, Mackenzie WG, Mason R, Thacker MM, Theroux M, Montaño AM, Alméciga-Díaz CJ, Barrera LA, Chinen Y, Sly WS, Rowan D, Suzuki Y, Orii T.

Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1:141-51. Review.


Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?

Tomatsu S, Montaño AM, Oikawa H, Dung VC, Hashimoto A, Oguma T, Gutiérrez ML, Takahashi T, Shimada T, Orii T, Sly WS.

Mol Genet Metab. 2015 Feb;114(2):195-202. doi: 10.1016/j.ymgme.2014.05.013. Epub 2014 Jun 4.


Expression patterns and subcellular localization of carbonic anhydrases are developmentally regulated during tooth formation.

Reibring CG, El Shahawy M, Hallberg K, Kannius-Janson M, Nilsson J, Parkkila S, Sly WS, Waheed A, Linde A, Gritli-Linde A.

PLoS One. 2014 May 1;9(5):e96007. doi: 10.1371/journal.pone.0096007. eCollection 2014.


Luminol-based chemiluminescent signals: clinical and non-clinical application and future uses.

Khan P, Idrees D, Moxley MA, Corbett JA, Ahmad F, von Figura G, Sly WS, Waheed A, Hassan MI.

Appl Biochem Biotechnol. 2014 May;173(2):333-55. doi: 10.1007/s12010-014-0850-1. Epub 2014 Apr 22. Review.


Expression of cancer-related carbonic anhydrases IX and XII in normal skin and skin neoplasms.

Syrjänen L, Luukkaala T, Leppilampi M, Kallioinen M, Pastorekova S, Pastorek J, Waheed A, Sly WS, Parkkila S, Karttunen T.

APMIS. 2014 Sep;122(9):880-9. doi: 10.1111/apm.12251. Epub 2014 Apr 3.


The Nobel Path of Cellular Proteins.

Eissenberg JC, Sly WS.

Mo Med. 2014 Mar-Apr;111(2):114-119.


Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

van Karnebeek CD, Sly WS, Ross CJ, Salvarinova R, Yaplito-Lee J, Santra S, Shyr C, Horvath GA, Eydoux P, Lehman AM, Bernard V, Newlove T, Ukpeh H, Chakrapani A, Preece MA, Ball S, Pitt J, Vallance HD, Coulter-Mackie M, Nguyen H, Zhang LH, Bhavsar AP, Sinclair G, Waheed A, Wasserman WW, Stockler-Ipsiroglu S.

Am J Hum Genet. 2014 Mar 6;94(3):453-61. doi: 10.1016/j.ajhg.2014.01.006. Epub 2014 Feb 13.


High resolution crystal structure of human β-glucuronidase reveals structural basis of lysosome targeting.

Hassan MI, Waheed A, Grubb JH, Klei HE, Korolev S, Sly WS.

PLoS One. 2013 Nov 19;8(11):e79687. doi: 10.1371/journal.pone.0079687. eCollection 2013. Erratum in: PLoS One. 2015;10(9):e0138401.


Membrane associated carbonic anhydrase IV (CA IV): a personal and historical perspective.

Waheed A, Sly WS.

Subcell Biochem. 2014;75:157-79. doi: 10.1007/978-94-007-7359-2_9. Review.


Enzyme replacement therapy on hypophosphatasia mouse model.

Oikawa H, Tomatsu S, Haupt B, Montaño AM, Shimada T, Sly WS.

J Inherit Metab Dis. 2014 Mar;37(2):309-317. doi: 10.1007/s10545-013-9646-7. Epub 2013 Aug 27.


Activity and distribution of intracellular carbonic anhydrase II and their effects on the transport activity of anion exchanger AE1/SLC4A1.

Al-Samir S, Papadopoulos S, Scheibe RJ, Meißner JD, Cartron JP, Sly WS, Alper SL, Gros G, Endeward V.

J Physiol. 2013 Oct 15;591(20):4963-82. doi: 10.1113/jphysiol.2013.251181. Epub 2013 Jul 22.


Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.

Naz H, Islam A, Waheed A, Sly WS, Ahmad F, Hassan I.

Rejuvenation Res. 2013 Oct;16(5):352-63. doi: 10.1089/rej.2013.1407. Review.


The final frontier -- crossing the blood-brain barrier.

Sly WS, Vogler C.

EMBO Mol Med. 2013 May;5(5):655-7. doi: 10.1002/emmm.201302668. No abstract available.


Targeted mutagenesis of mitochondrial carbonic anhydrases VA and VB implicates both enzymes in ammonia detoxification and glucose metabolism.

Shah GN, Rubbelke TS, Hendin J, Nguyen H, Waheed A, Shoemaker JD, Sly WS.

Proc Natl Acad Sci U S A. 2013 Apr 30;110(18):7423-8. doi: 10.1073/pnas.1305805110. Epub 2013 Apr 15.


GPI-anchored carbonic anhydrase IV displays both intra- and extracellular activity in cRNA-injected oocytes and in mouse neurons.

Schneider HP, Alt MD, Klier M, Spiess A, Andes FT, Waheed A, Sly WS, Becker HM, Deitmer JW.

Proc Natl Acad Sci U S A. 2013 Jan 22;110(4):1494-9. doi: 10.1073/pnas.1221213110. Epub 2013 Jan 7.


NMDA receptor-dependent afterdepolarizations are curtailed by carbonic anhydrase 14: regulation of a short-term postsynaptic potentiation.

Makani S, Chen HY, Esquenazi S, Shah GN, Waheed A, Sly WS, Chesler M.

J Neurosci. 2012 Nov 21;32(47):16754-62. doi: 10.1523/JNEUROSCI.1467-12.2012.


Carbonic anhydrase IX in malignant pleural mesotheliomas: a potential target for anti-cancer therapy.

Kivelä AJ, Knuuttila A, Räsänen J, Sihvo E, Salmenkivi K, Saarnio J, Pastorekova S, Pastorek J, Waheed A, Sly WS, Salo JA, Parkkila S.

Bioorg Med Chem. 2013 Mar 15;21(6):1483-8. doi: 10.1016/j.bmc.2012.09.018. Epub 2012 Sep 18.


Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII.

Huynh HT, Grubb JH, Vogler C, Sly WS.

Proc Natl Acad Sci U S A. 2012 Oct 16;109(42):17022-7. doi: 10.1073/pnas.1214779109. Epub 2012 Oct 1.


Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII.

Rowan DJ, Tomatsu S, Grubb JH, Montaño AM, Sly WS.

J Inherit Metab Dis. 2013 Mar;36(2):235-46. doi: 10.1007/s10545-012-9522-x. Epub 2012 Sep 13.


Long circulating enzyme replacement therapy rescues bone pathology in mucopolysaccharidosis VII murine model.

Rowan DJ, Tomatsu S, Grubb JH, Haupt B, Montaño AM, Oikawa H, Sosa AC, Chen A, Sly WS.

Mol Genet Metab. 2012 Sep;107(1-2):161-72. doi: 10.1016/j.ymgme.2012.07.002. Epub 2012 Jul 14.


Effect of sulfonamides as carbonic anhydrase VA and VB inhibitors on mitochondrial metabolic energy conversion.

Arechederra RL, Waheed A, Sly WS, Supuran CT, Minteer SD.

Bioorg Med Chem. 2013 Mar 15;21(6):1544-8. doi: 10.1016/j.bmc.2012.06.053. Epub 2012 Jul 11.


Structure, function and applications of carbonic anhydrase isozymes.

Imtaiyaz Hassan M, Shajee B, Waheed A, Ahmad F, Sly WS.

Bioorg Med Chem. 2013 Mar 15;21(6):1570-82. doi: 10.1016/j.bmc.2012.04.044. Epub 2012 Apr 27. Review.


Carbonic anhydrase IX promotes tumor growth and necrosis in vivo and inhibition enhances anti-VEGF therapy.

McIntyre A, Patiar S, Wigfield S, Li JL, Ledaki I, Turley H, Leek R, Snell C, Gatter K, Sly WS, Vaughan-Jones RD, Swietach P, Harris AL.

Clin Cancer Res. 2012 Jun 1;18(11):3100-11. doi: 10.1158/1078-0432.CCR-11-1877. Epub 2012 Apr 12.


Carbonic anhydrase isozymes II, IX, and XII in uterine tumors.

Hynninen P, Parkkila S, Huhtala H, Pastorekova S, Pastorek J, Waheed A, Sly WS, Tomas E.

APMIS. 2012 Feb;120(2):117-29. doi: 10.1111/j.1600-0463.2011.02820.x. Epub 2011 Oct 25.


Drosophila GGA model: an ultimate gateway to GGA analysis.

Eissenberg JC, Ilvarsonn AM, Sly WS, Waheed A, Krzyzanek V, Pohlmann R, Waschkau D, Kretzschmar D, Dennes AC.

Traffic. 2011 Dec;12(12):1821-38. doi: 10.1111/j.1600-0854.2011.01285.x. Epub 2011 Oct 13.


Electrically wired mitochondrial electrodes for measuring mitochondrial function for drug screening.

Arechederra RL, Waheed A, Sly WS, Minteer SD.

Analyst. 2011 Sep 21;136(18):3747-52. doi: 10.1039/c1an15370f. Epub 2011 Jul 21.


Transport activity of the high-affinity monocarboxylate transporter MCT2 is enhanced by extracellular carbonic anhydrase IV but not by intracellular carbonic anhydrase II.

Klier M, Schüler C, Halestrap AP, Sly WS, Deitmer JW, Becker HM.

J Biol Chem. 2011 Aug 5;286(31):27781-91. doi: 10.1074/jbc.M111.255331. Epub 2011 Jun 16.


Identification of N-glycans displaying mannose-6-phosphate and their site of attachment on therapeutic enzymes for lysosomal storage disorder treatment.

Bones J, Mittermayr S, McLoughlin N, Hilliard M, Wynne K, Johnson GR, Grubb JH, Sly WS, Rudd PM.

Anal Chem. 2011 Jul 1;83(13):5344-52. doi: 10.1021/ac2007784. Epub 2011 Jun 7.


T tubules and surface membranes provide equally effective pathways of carbonic anhydrase-facilitated lactic acid transport in skeletal muscle.

Hallerdei J, Scheibe RJ, Parkkila S, Waheed A, Sly WS, Gros G, Wetzel P, Endeward V.

PLoS One. 2010 Dec 13;5(12):e15137. doi: 10.1371/journal.pone.0015137.


Role of carbonic anhydrase IV in the bicarbonate-mediated activation of murine and human sperm.

Wandernoth PM, Raubuch M, Mannowetz N, Becker HM, Deitmer JW, Sly WS, Wennemuth G.

PLoS One. 2010 Nov 24;5(11):e15061. doi: 10.1371/journal.pone.0015061.


Carbonic anhydrases in the mouse harderian gland.

Pan PW, Waheed A, Sly WS, Parkkila S.

J Mol Histol. 2010 Dec;41(6):411-7. doi: 10.1007/s10735-010-9290-6. Epub 2010 Sep 5.


Analysis of a shortened form of human carbonic anhydrase VII expressed in vitro compared to the full-length enzyme.

Bootorabi F, Jänis J, Smith E, Waheed A, Kukkurainen S, Hytönen V, Valjakka J, Supuran CT, Vullo D, Sly WS, Parkkila S.

Biochimie. 2010 Aug;92(8):1072-80. doi: 10.1016/j.biochi.2010.05.008. Epub 2010 May 21.


Guanidinylated neomycin mediates heparan sulfate-dependent transport of active enzymes to lysosomes.

Sarrazin S, Wilson B, Sly WS, Tor Y, Esko JD.

Mol Ther. 2010 Jul;18(7):1268-74. doi: 10.1038/mt.2010.78. Epub 2010 May 4.


The tumour-associated carbonic anhydrases CA II, CA IX and CA XII in a group of medulloblastomas and supratentorial primitive neuroectodermal tumours: an association of CA IX with poor prognosis.

Nordfors K, Haapasalo J, Korja M, Niemelä A, Laine J, Parkkila AK, Pastorekova S, Pastorek J, Waheed A, Sly WS, Parkkila S, Haapasalo H.

BMC Cancer. 2010 Apr 18;10:148. doi: 10.1186/1471-2407-10-148.

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