Arylsulfatase L is an enzyme that, in humans, is encoded by the ARSL gene.[3]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000157399 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Franco B, Meroni G, Parenti G, Levilliers J, Bernard L, Gebbia M, Cox L, Maroteaux P, Sheffield L, Rappold GA (April 1995). "A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy". Cell. 81 (1): 15–25. doi:10.1016/0092-8674(95)90367-4. PMID 7720070.
- ↑ "ARSL arylsulfatase L [ Homo sapiens (human) ]". National Center for Biotechnology Information.
- ↑ Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G (March 2003). "X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability". Am. J. Med. Genet. A. 117A (2): 164–8. doi:10.1002/ajmg.a.10950. PMID 12567415. S2CID 11888467.
Further reading
- Stelzl U, Worm U, Lalowski M, et al. (2005). "A human protein-protein interaction network: a resource for annotating the proteome". Cell. 122 (6): 957–68. doi:10.1016/j.cell.2005.08.029. hdl:11858/00-001M-0000-0010-8592-0. PMID 16169070.
- Puca AA, Zollo M, Repetto M, et al. (1997). "Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSE) from the Xp22.3 region". Genomics. 42 (2): 192–9. doi:10.1006/GENO.1997.4716. PMID 9192838.
- Parenti G, Buttitta P, Meroni G, et al. (1997). "X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene". Am. J. Med. Genet. 73 (2): 139–43. doi:10.1002/(SICI)1096-8628(19971212)73:2<139::AID-AJMG7>3.0.CO;2-P. PMID 9409863.
- Nino M, Matos-Miranda C, Maeda M, et al. (2008). "Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata". Am. J. Med. Genet. A. 146A (8): 997–1008. doi:10.1002/ajmg.a.32159. PMID 18348268. S2CID 24869085.
- Meroni G, Franco B, Archidiacono N, et al. (1996). "Characterization of a cluster of sulfatase genes on Xp22.3 suggests gene duplications in an ancestral pseudoautosomal region". Hum. Mol. Genet. 5 (4): 423–31. doi:10.1093/hmg/5.4.423. PMID 8845834.
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2001). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Urbitsch P, Salzer MJ, Hirschmann P, Vogt PH (2000). "Arylsulfatase D gene in Xp22.3 encodes two protein isoforms". DNA Cell Biol. 19 (12): 765–73. doi:10.1089/104454900750058125. PMID 11177574.
- Daniele A, Parenti G, d'Addio M, et al. (1998). "Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata". Am. J. Hum. Genet. 62 (3): 562–72. doi:10.1086/301746. PMC 1376941. PMID 9497243.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.