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ARSE  -  arylsulfatase E (chondrodysplasia punctata 1)

Homo sapiens

 
 
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Disease relevance of ARSE

 

Psychiatry related information on ARSE

 

High impact information on ARSE

 

Chemical compound and disease context of ARSE

 

Biological context of ARSE

  • Transfection of the ARSE full-length cDNA, in Cos7 cells, allowed us to establish that its protein product is a 60-kD precursor, which is subject to N-glycosylation, to give a mature 68-kD form that, unique among sulfatases, is localized to the Golgi apparatus [8].
  • The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described [10].
  • Brachytelephalangia was the only result of ARSE gene deletion in this case [2].
  • Further studies are necessary to investigate genotype/phenotype correlation in cases with translocations or microdeletions on Xp22.3, including the ARSE and the SHOX gene loci [2].
  • Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product [10].
 

Anatomical context of ARSE

  • Expression of the ARSE gene in COS cells resulted in a heat-labile arylsulfatase activity that was inhibited by warfarin [1].
  • The expression in pharyngeal arches, somites, and leg buds during chick development is consistent with cARS being the functional ortholog of ARSE, matching the tissues affected in this genetic disorder [11].
  • Competitive inhibitors of ASE I or the addition of excess L-arginine lead to the re-expression of CD3zeta and recovery of T cell proliferation [12].
  • Peptides with alterations in NPYG facilitated neurite retention but not attraction and, conversely, molecules with alterations in ASE facilitated neurite attraction but not retention [13].
  • In contrast to mouse lefty1, which is expressed predominantly in the floor plate under the control of a right side-specific silencer, human LEFTY1 is expressed mainly in left lateral plate mesoderm under the control of an ASE-like left side-specific enhancer [14].
 

Associations of ARSE with chemical compounds

  • RESULTS: In the taper phase, there were no significant differences between the sertraline- and placebo-treated women on the sum of the ASE-derived symptoms [15].
  • Erythromycin, josamycin, clindamycin, and ASE 136 BS (a new erythromycin derivative) were the most active against the human strains [16].
  • SCEs were demonstrated in EAT-bearing mice, by the i.p. injection of BrdUrd adsorbed onto activated charcoal, 1 h after the i.p. injection of ASE and/or caffeine [4].
  • Pressurized liquid extraction (PLE, ASE) was compared with the Folch procedure (a solid-liquid extraction with chloroform/methanol 2:1, v/v) for the lipid extraction of egg-containing food; the accuracy of PLE for the quantitative determination of oxysterols in whole egg powder was evaluated [17].
  • Evaluation and characterization of micronuclei induced by the antitumour agent ASE [3beta-hydroxy-13alpha-amino-13, 17-seco-5alpha-androstan-17-oic-13, 17-lactam-p-bis(2-chloroethyl)amino phenylacetate] in human lymphocyte cultures [18].
 

Other interactions of ARSE

 

Analytical, diagnostic and therapeutic context of ARSE

  • METHODS: Patients were stratified into high-, intermediate-, and low-risk groups according to the American Association of Cardiovascular and Pulmonary Rehabilitation risk stratification criteria for clinical events (ARSE) at program entry [21].
  • Five missense mutations found in CDPX patients were introduced into wild-type ARSE cDNA by site-directed mutagenesis [8].
  • We measured ambulatory 24-hour blood pressure (SpaceLab system), echocardiography (ASE criteria, Acuson 128 XP 10), CIn and CPAH, urinary Na excretion, PRA and insulin concentration [22].
  • Lympocytes were treated with different concentrations of ASE (0.1, 0.25, 0.5, 1, 2.5, 5, 10 and 20 microg/ml) at two different cell culture times, 21 and 41 h after culture initiation [18].
  • METHODS: In four cross-sectional studies (N = 918, N = 354, N = 225, N = 317), smokers filled in a questionnaire based on the ASE model, while the motivational phase question was based on the stage definitions from the Transtheoretical model [23].

References

  1. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Puca, A.A., Zollo, M., Repetto, M., Andolfi, G., Guffanti, A., Simon, G., Ballabio, A., Franco, B. Genomics (1997) [Pubmed]
  2. Brachytelephalangic dwarfism due to the loss of ARSE and SHOX genes resulting from an X;Y translocation. Seidel, J., Schiller, S., Kelbova, C., Beensen, V., Orth, U., Vogt, S., Claussen, U., Zintl, F., Rappold, G.A. Clin. Genet. (2001) [Pubmed]
  3. The antigen/antibody specificity exchanger: a new peptide based tool for re-directing antibodies of other specificities to recognize the V3 domain of HIV-1 gp120. Sällberg, M., Sherefa, K., Zhang, Z.X. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  4. Synergistic induction of cytogenetic damage by the homo-aza-steroidal ester of p-bis(2-chloroethyl)aminophenylacetic acid in combination with caffeine in human lymphocytes in vitro and in Ehrlich ascites tumour cells in vivo. Petrou, C., Mourelatos, D., Dozi-Vassiliades, J., Catsoulacos, P. Mutat. Res. (1990) [Pubmed]
  5. Physical activity for people with a disability: a conceptual model. van der Ploeg, H.P., van der Beek, A.J., van der Woude, L.H., van Mechelen, W. Sports medicine (Auckland, N.Z.) (2004) [Pubmed]
  6. Psychosocial factors associated with cancer behavioural risk in relatives of cancer patients. López, M.L., Comas, A., del Valle, M.O., López, S., García, J.B., Cueto-Espinar, A. Eur. J. Cancer Prev. (2004) [Pubmed]
  7. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G.A. Cell (1995) [Pubmed]
  8. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Daniele, A., Parenti, G., d'Addio, M., Andria, G., Ballabio, A., Meroni, G. Am. J. Hum. Genet. (1998) [Pubmed]
  9. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Bick, D.P., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W., Shapiro, L.J., Moore, C.M. Prenat. Diagn. (1992) [Pubmed]
  10. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Parenti, G., Buttitta, P., Meroni, G., Franco, B., Bernard, L., Rizzolo, M.G., Brunetti-Pierri, N., Ballabio, A., Andria, G. Am. J. Med. Genet. (1997) [Pubmed]
  11. Identification and biochemical characterization of an avian sulfatase homologous to the human ARSE, the gene for X-linked chondrodysplasia punctata. Ferrante, P., Messali, S., Ballabio, A., Meroni, G. Gene (2004) [Pubmed]
  12. L-arginine consumption by macrophages modulates the expression of CD3 zeta chain in T lymphocytes. Rodriguez, P.C., Zea, A.H., DeSalvo, J., Culotta, K.S., Zabaleta, J., Quiceno, D.G., Ochoa, J.B., Ochoa, A.C. J. Immunol. (2003) [Pubmed]
  13. Neurite guidance by the FnC repeat of human tenascin-C: neurite attraction vs. neurite retention. Liu, H.Y., Nur-E-Kamal, A., Schachner, M., Meiners, S. Eur. J. Neurosci. (2005) [Pubmed]
  14. Distinct transcriptional regulation and phylogenetic divergence of human LEFTY genes. Yashiro, K., Saijoh, Y., Sakuma, R., Tada, M., Tomita, N., Amano, K., Matsuda, Y., Monden, M., Okada, S., Hamada, H. Genes Cells (2000) [Pubmed]
  15. Postpartum depression recurrence versus discontinuation syndrome: observations from a randomized controlled trial. Sunder, K.R., Wisner, K.L., Hanusa, B.H., Perel, J.M. The Journal of clinical psychiatry. (2004) [Pubmed]
  16. Susceptibility of Campylobacter jejuni and Campylobacter coli to macrolides and related compounds. Elharrif, Z., Mégraud, F., Marchand, A.M. Antimicrob. Agents Chemother. (1985) [Pubmed]
  17. Pressurized liquid extraction of lipids for the determination of oxysterols in egg-containing food. Boselli, E., Velazco, V., Caboni, M.F., Lercker, G. Journal of chromatography. A. (2001) [Pubmed]
  18. Evaluation and characterization of micronuclei induced by the antitumour agent ASE [3beta-hydroxy-13alpha-amino-13, 17-seco-5alpha-androstan-17-oic-13, 17-lactam-p-bis(2-chloroethyl)amino phenylacetate] in human lymphocyte cultures. Andrianopoulos, C., Stephanou, G., Politi, E., Demopoulos, N.A. Mutagenesis (2000) [Pubmed]
  19. Long-range restriction map of the terminal part of the short arm of the human X chromosome. Petit, C., Levilliers, J., Weissenbach, J. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  20. Refinement of the locus for X-linked recessive chondrodysplasia punctata. Muroya, K., Ogata, T., Rappold, G., Klink, A., Nakahori, Y., Fukushima, Y., Aizu, K., Matsuo, N. Hum. Genet. (1995) [Pubmed]
  21. Optimizing risk stratification in cardiac rehabilitation with inclusion of a comorbidity index. Zoghbi, G.J., Sanderson, B., Breland, J., Adams, C., Schumann, C., Bittner, V. Journal of cardiopulmonary rehabilitation. (2004) [Pubmed]
  22. Early increase in blood pressure and diastolic left ventricular malfunction in patients with glomerulonephritis. Stefanski, A., Schmidt, K.G., Waldherr, R., Ritz, E. Kidney Int. (1996) [Pubmed]
  23. Differential beliefs, perceived social influences, and self-efficacy expectations among smokers in various motivational phases. De Vries, H., Mudde, A.N., Dijkstra, A., Willemsen, M.C. Preventive medicine. (1998) [Pubmed]
 
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