Citations for
PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.
Oostdijk W, Idkowiak J, Mueller JW, House PJ, Taylor AE, O'Reilly MW, Hughes BA, de Vries MC, Kant SG, Santen GW, Verkerk AJ, Uitterlinden AG, Wit JM, Losekoot M, Arlt W.
J Clin Endocrinol Metab 100(4):E672-80. doi: 10.1210/jc.2014-3556. Epub 2015 Jan 16. 2015
Clinical and radiographic features of the autosomal recessive form of brachyolmia caused by PAPSS2 mutations.
Iida A, Simsek-Kiper PÖ, Mizumoto S, Hoshino T, Elcioglu N, Horemuzova E, Geiberger S, Yesil G, Kayserili H, Utine GE, Boduroglu K, Watanabe S, Ohashi H, Alanay Y, Sugahara K, Nishimura G, Ikegawa S.
Hum Mutat 34(10):1381-6. doi: 10.1002/humu.22377. Epub 2013 Jul 26. 2013
PAPSS2 mutations cause autosomal recessive brachyolmia.
Miyake N, Elcioglu NH, Iida A, Isguven P, Dai J, Murakami N, Takamura K, Cho TJ, Kim OH, Hasegawa T, Nagai T, Ohashi H, Nishimura G, Matsumoto N, Ikegawa S.
J Med Genet 49(8):533-8. doi: 10.1136/jmedgenet-2012-101039. Epub 2012 Jul 11. 2012
PAPSS2 promotes alkaline phosphates activity and mineralization of osteoblastic MC3T3-E1 cells by crosstalk and Smads signal pathways.
Wang W, Li F, Wang K, Cheng B, Guo X.
PLoS One 7(8):e43475. doi: 10.1371/journal.pone.0043475. Epub 2012 Aug 16. 2012
Human PAPS synthase isoforms are dynamically regulated enzymes with access to nucleus and cytoplasm.
Schröder E, Gebel L, Eremeev AA, Morgner J, Grum D, Knauer SK, Bayer P, Mueller JW.
PLoS One 7(1):e29559. doi: 10.1371/journal.pone.0029559. Epub 2012 Jan 5. 2012
Inactivating PAPSS2 mutations in a patient with premature pubarche.
Noordam C, Dhir V, McNelis JC, Schlereth F, Hanley NA, Krone N, Smeitink JA, Smeets R, Sweep FC, Claahsen-van der Grinten HL, Arlt W.
N Engl J Med 360(22):2310-8. Erratum in: N Engl J Med. 2009 Jul 9;361(2):217. PMID: 19474428 2009
Expression profile of Papss2 (3'-phosphoadenosine 5'-phosphosulfate synthase 2) during cartilage formation and skeletal development in the mouse embryo.
Stelzer C, Brimmer A, Hermanns P, Zabel B, Dietz UH.
Dev Dyn 236(5):1313-8.PMID: 17436279 2007
Tissue distribution and ontogeny of sulfotransferase enzymes in mice.
Alnouti Y, Klaassen CD.
Toxicol Sci 93(2):242-55. Epub 2006 Jun 28.PMID: 16807285 2006
Degenerative knee joint disease in mice lacking 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (Papss2) activity: a putative model of human PAPSS2 deficiency-associated arthrosis.
Ford-Hutchinson AF, Ali Z, Seerattan RA, Cooper DM, Hallgrimsson B, Salo PT, Jirik FR.
Osteoarthritis Cartilage 13(5):418-25. 2005
Identification of proteins differentially expressed during chondrogenesis of mesenchymal cells.
Lee SJ, Jeon HB, Lee JH, Yoo JS, Chun JS, Yoo YJ.
FEBS Lett 563(1-3):35-40. 2004
Human 3'-phosphoadenosine 5'-phosphosulfate (PAPS) synthase: biochemistry, molecular biology and genetic deficiency.
Venkatachalam KV.
IUBMB Life 55(1):1-11. Review.PMID: 12716056 2003
Characterization and expression of human bifunctional 3'-phosphoadenosine 5'-phosphosulphate synthase isoforms.
Fuda H, Shimizu C, Lee YC, Akita H, Strott CA.
Biochem J 365(Pt 2):497-504. 2002
Identification of sequence polymorphisms in two sulfation-related genes, PAPSS2 and SLC26A2, and an association analysis with knee osteoarthritis.
Ikeda T, Mabuchi A, Fukuda A, Hiraoka H, Kawakami A, Yamamoto S, Machida H, Takatori Y, Kawaguchi H, Nakamura K, Ikegawa S.
J Hum Genet 46(9):538-43. 2001
Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization.
Xu ZH, Otterness DM, Freimuth RR, Carlini EJ, Wood TC, Mitchell S, Moon E, Kim UJ, Xu JP, Siciliano MJ, Weinshilboum RM.
Biochem Biophys Res Commun 268(2):437-44. 2000
Molecular cloning of a novel human PAPS synthetase which is differentially expressed in metastatic and non-metastatic colon carcinoma cells.
Franzon VL, et al.
Int J Biochem Cell Biol 31(5):613-26. 1999
Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2.
Kurima K, Singh B, Schwartz NB.
J Biol Chem 274(47):33306-12 1999
Mutations in orthologous genes in human spondyloepimetaphyseal dysplasia and the brachymorphic mouse.
Faiyaz ul Haque M, et al.
Nat Genet 20 : 157-162. 1998