William Sly, M.D.
Biochemistry and Molecular Biology
Experimental approaches to the treatment of murine β-glucuronidase deficiency mucopolysaccharidosis (Sly syndrome) and biochemical and molecular genetics studies of human carbonic anhydrase deficiencies.
Areas of research include: (i) experimental approaches to treatment of murine beta-glucuronidase deficiency mucopolysaccharidosis (Sly syndrome), (ii) biochemical and molecular genetics of human deficiencies of beta-glucuronidase and carbonic anhydrases, and (iii) developing transgenic mice and mouse models of human disease by targeted mutagenesis.
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 and Järvinen TA
Pubmed | Exp. Mol. Med.
Carbonic anhydrase XII functions in health and disease
Waheed A and Sly WS
Pubmed | Gene
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 and Mumm S
Pubmed | J. Bone Miner. Res.
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 and Haglund C
Pubmed | World J. Gastroenterol.
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 and Cutting GR
Pubmed | Hum. Mol. Genet.