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Search life-sciences literature (45,103,589 articles, preprints and more)

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Mitochondrial carbonic anhydrase VA and VB: properties and roles in health and disease.
Aspatwar A, Supuran CT, Waheed A, Sly WS, Parkkila S
J Physiol, 601(2):257-274, 19 Dec 2022
Cited by: 9 articles | PMID: 36464834 | PMCID: PMC10107955
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Carbonic anhydrases in metazoan model organisms: molecules, mechanisms, and physiology.
Aspatwar A, Tolvanen MEE, Barker H, Syrjänen L, Valanne S, Purmonen S, Waheed A, Sly WS, Parkkila S
Physiol Rev, 102(3):1327-1383, 15 Feb 2022
Cited by: 29 articles | PMID: 35166161
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Association between mucopolysaccharidosis Type VII and hydrops fetalis.
Holtz M, Montaño AM, Sly WS
Ultrasound Obstet Gynecol, 55(3):416-417, 01 Mar 2020
Cited by: 5 articles | PMID: 31180609
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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, 24(11):2946-2956, 01 Sep 2018
Cited by: 23 articles | PMID: 30208319
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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, 47(3):271-290, 03 Oct 2017
Cited by: 5 articles | PMID: 28975383 | PMCID: PMC6276378
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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, 49(5):e334, 19 May 2017
Cited by: 17 articles | PMID: 28524177 | PMCID: PMC5454449
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Carbonic anhydrase XII functions in health and disease.
Waheed A, Sly WS
Gene, 623:33-40, 19 Apr 2017
Cited by: 57 articles | PMID: 28433659 | PMCID: PMC5851007
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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, 32(4):757-769, 14 Dec 2016
Cited by: 19 articles | PMID: 27862258
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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, 22(36):8168-8177, 01 Sep 2016
Cited by: 30 articles | PMID: 27688658 | PMCID: PMC5037085
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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, 25(10):1923-1933, 23 Feb 2016
Cited by: 17 articles | PMID: 26911677 | PMCID: PMC5062583
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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, [...] Sly WS
J Med Genet, 53(6):403-418, 23 Feb 2016
Cited by: 80 articles | PMID: 26908836 | PMCID: PMC4893087
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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, 10(11):e0142347, 06 Nov 2015
Cited by: 5 articles | PMID: 26545208 | PMCID: PMC4636227
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Pharmacologic manipulation of lysosomal enzyme transport across the blood-brain barrier.
Urayama A, Grubb JH, Sly WS, Banks WA
J Cereb Blood Flow Metab, 36(3):476-486, 03 Nov 2015
Cited by: 9 articles | PMID: 26661222 | PMCID: PMC4794098
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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, 290(49):29202-29216, 20 Oct 2015
Cited by: 19 articles | PMID: 26487715 | PMCID: PMC4705926
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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, 576(1 pt 1):36-44, 28 Sep 2015
Cited by: 33 articles | PMID: 26415878
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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, 10(9):e0138401, 14 Sep 2015
Cited by: 2 articles | PMID: 26367146 | PMCID: PMC4569263
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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, 114(2):94-109, 09 Dec 2014
Cited by: 59 articles | PMID: 25537451 | PMCID: PMC4312706
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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, 114(2):203-208, 07 Nov 2014
Cited by: 43 articles | PMID: 25468648 | PMCID: PMC4360956
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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, 12 Suppl 1:141-151, 01 Sep 2014
Cited by: 36 articles | PMID: 25345096 | PMCID: PMC4259875
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The Nobel Path of Cellular Proteins.
Eissenberg JC, Sly WS
Mo Med, 111(2):114-119, 01 Mar 2014
Cited by: 0 articles | PMID: 30323516 | PMCID: PMC6179482
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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, 114(2):195-202, 04 Jun 2014
Cited by: 19 articles | PMID: 24953405 | PMCID: PMC4256128
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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, 9(5):e96007, 01 May 2014
Cited by: 20 articles | PMID: 24789143 | PMCID: PMC4006843
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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, 173(2):333-355, 22 Apr 2014
Cited by: 100 articles | PMID: 24752935 | PMCID: PMC4426882
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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, 122(9):880-889, 03 Apr 2014
Cited by: 10 articles | PMID: 24698175
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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, [...] Stockler-Ipsiroglu S
Am J Hum Genet, 94(3):453-461, 13 Feb 2014
Cited by: 44 articles | PMID: 24530203 | PMCID: PMC3951944
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