Multi-system disorder syndromes associated with cystinuria type I

Current Molecular Medicine

Volumn 8, Issue 6, 2008, Pages 544-550

  Martens, Kevin ^a,b   Jaeken, Jaak ^c   Matthijs, Gert ^b   Creemers, John W M ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b UNIVERSITY OF LEUVEN   (Belgium)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

2p21 deletion syndrome; C20rf34; HCS; PPM1B; PREPL; SLC3A1

Indexed keywords

CYTOCHROME; CYTOCHROME C OXIDASE; GENE PRODUCT; ISOPROTEIN; OLIGOPEPTIDASE B; PROPYL OLIGOPEPTIDASE LIKE; PROTEIN PHOSPHATASE 1 MAGNESIUM DEPENDANT BETA; RESPIRATORY CHAIN COMPLEX I; RESPIRATORY CHAIN COMPLEX III; RESPIRATORY CHAIN COMPLEX V; SERINE PROTEINASE; SOLUTE CARRIER FAMILY 3 MEMBER 1 PROTEIN; UNCLASSIFIED DRUG; AMINO ACID TRANSPORTER; PHOSPHOPROTEIN PHOSPHATASE; PHOSPHOPROTEIN PHOSPHATASE 2C; PROLYL ENDOPEPTIDASE; SLC3A1 PROTEIN, HUMAN;

ALLELE; ATYPICAL HYPOTONIA CYSTINURIA SYNDROME; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOMAL 2P21 DELETION SYNDROME; CONVULSION; CYSTINURIA; CYSTINURIA TYPE 1; DISEASE ASSOCIATION; DISEASE SEVERITY; EXON; FACE DYSMORPHIA; FAMILY ASSESSMENT; GENE DELETION; GENE FUNCTION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; GENETIC GAIN; GENETIC VARIABILITY; GROWTH RETARDATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOTONIA CYSTINURIA SYNDROME; INFANTILE HYPOTONIA; MENTAL DEFICIENCY; NONHUMAN; OPEN READING FRAME; PHENOTYPE; PSYCHOMOTOR DISORDER; REVIEW; CHROMOSOME 2; CLASSIFICATION; GENETICS; METABOLISM; MUSCLE HYPOTONIA; PATHOPHYSIOLOGY; SYNDROME;

AMINO ACID TRANSPORT SYSTEMS, BASIC; AMINO ACID TRANSPORT SYSTEMS, NEUTRAL; CHROMOSOMES, HUMAN, PAIR 2; CYSTINURIA; GENE DELETION; HUMANS; MUSCLE HYPOTONIA; OPEN READING FRAMES; PHENOTYPE; PHOSPHOPROTEIN PHOSPHATASES; SERINE ENDOPEPTIDASES; SYNDROME;

EID: 53149144301     PISSN: 15665240     EISSN: None     Source Type: Journal    
DOI: 10.2174/156652408785747997     Document Type: Review

References (58)

1. Goodyer, P. (2004) Nephron Exp. Nephrol., 98, e45-9.
2. Rosenberg, L.E., Downing, S., Durant, J.L. and Segal, S. (1966) J. Clin. Invest., 45, 365-71.
3. Wollaston, W. (1810) Philos. Trans. R. Soc. Lond, 100, 223-230.
4. Garrod, E. (1908) The Croonian lectures on inborn errors of metabolism. Lectures i, II, III, IV. Lancet 11:1-7, and 73-79, and 142-148, and 214-220.
5. Calonge, M.J., Gasparini, P., Chillaron, J., Chillon, M., Gallucci, M., Rousaud, F., Zelante, L., Testar, X., Dallapiccola, B., Di Silverio, F., Barcelo, P., Estivill, X., Zorzano, A., Nunes, V. and Palacin, M. (1994) Nat. Genet, 6, 420-5.
6. Feliubadalo, L., Font, M., Purroy, J., Rousaud, F., Estivill, X., Nunes, V., Golomb, E., Centola, M., Aksentijevich, I., Kreiss, Y., Gold, B., Pras, M., Kastner, D.L., Pras, E., Gasparini, P., Bisceglia, L., Bessia, E., Gallucci, M., de Sanctis, L., Ponzone, A., Rizzoni, G.F., Zelante, L., Bassi, M.T., George, A.L. Jr., Manzoni, M., De Grandi, A., Riboni, M., Endsley, J.K., Ballabio, A., Borseni, G., Reig, N., Fernandez, E., Estevez, R., Pineda, M., Torrents, D., Camps, M., Lloberas, J., Zorzano, A. and Palacin, M. (1999) Nat. Genet., 23, 52-7.
7. Dello Strologo, L., Pras, E., Pontesilli, C., Beccia, E., Ricci-Barbini, V., de Sanctis, L., Ponzone, A., Gallucci, M., Bisceglia, L., Zelante, L., Jimenez-Vidal, M., Font, M., Zorzano, A., Rousaud, F., Nunes, V., Gasparini, P., Palacin, M. and Rizzoni, G. (2002) J. Am. Soc. Nephrol., 13, 2547-53.
8. Parvari, R., Brodyansky, I., Elpeleg, O., Moses, S., Landau, D. and Hershkovitz, E. (2001) Am. J. Hum. Genet., 69, 869-75.
9. Parvari, R., Gonen, Y., Alshafee, I., Buriakovsky, S., Reglev, K. and Hershkovitz, E. (2005) Genomics, 86, 195-211.
10. Jaeken, J., Martens, K., Francois, I., Eyskens, F., Lecointre, C., Derua, R., Meulemans, S., Slootstra, J.W., Waelkens, E., de Zegher, F., Creemers, J.W. and Matthijs, G. (2006) Am. J. Hum. Genet., 78, 38-51.
11. Martens, K., Heulens, I., Meulemans, S., Zaffanello, M., Tilstra, D., Has, F.J., Rooman, R., Francois, I., de Zegher F., Jaeken, J., Matthijs, G. and Creemers, J.W. (2007) Eur. J. Hum. Genet., 15, 1029-33.
12. Chabrol, B., Martens, K., Meulemans, S., Jaeken, J., Matthijs, G. and Creemers, J.W. (2008) J. Med. Genet., 45, 314-318.
13. Clara, R., Lowenthal, A. (1966) Bull. Acad. R. Med Belg., 6, 577-611.
14. Zaffanello, M., Beghini, R., Zamboni, G. and Fanos, V. (2003) Pediatr. Nephrol., 18, 846-7.
15. Martens, K., Derua, R., Meulemans, S., Waelkens, E., Jaeken, J., Matthijs, G. and Creemers, J.W. (2006) Biol. Chem., 387, 879-83.
16. Parvari, R. and Hershkovitz, E. (2007) Eur. J. Hum. Genet., 15, 997-8.
17. Palacin, M., Borsani, G. and Sebastio, G. (2001) Curr Opin. Genet. Dev., 11, 328-25.
18. Goodyer, P., Boutros, M. and Rozen, R. (2000) Exp. Nephrol., 8, 123-7.
19. Palacin, M., Estevez, R., Bertran, J. and Zorzano, A. (1998) Physiol. Rev., 78, 969-1054.
20. Palacin, M., Nunes, V., Font-Llitjos, M., Jimenez-Vidal, M., Fort, J., Gasol, E., Pineda, M., Feliubadalo, L., Chillaron, J. and Zorzano, A. (2005) Physiology (Bethesda), 20, 112-24.
21. Bisceglia, L., Calonge, M.J., Dello Strologo, L., Rizzoni, G., de Sanctis, L., Gallucci, M., Beccia, E., Testar, X., Zorzano, A., Estivill, X., Zelante, L., Palacin, M., Gasparini, P. and Nunes, V. (1996) Hum. Genet., 98, 447-51.
22. Font-Llitjos, M., Jimenez-Vidal, M., Bisceglia, L., Di Perna, M., de Sanctis, L., Rousaud, F., Zelante, L., Palacin, M. and Nunes, V. (2005) J. Med. Genet., 42, 58-68.
23. Peters, T., Thaete, C., Wolf, S., Popp, A., Sedlmeier, R., Grosse, J., Nehls, M.C., Russ, A. and Schlueter, V. (2003) Hum. Mol. Genet., 12, 2109-20.
24. Szeltner, Z., Alshafee, I., Juhasz, T., Parvari, R. and Polgar, L. (2005) Cell Mol. Life Sci., 62, 2376-81.
25. Venalainen, J.I., Juvonen, R.O. and Mannisto, P.T. (2004) Eur. J. Biochem., 271, 2705-15.
26. Moriyama, A., Nakanishi, M. and Sasaki, M. (1988) J. Biochem (Tokyo), 104, 112-7.
27. Polgar, L. (1994) Methods Enzymol., 244, 188-200.
28. Fulop, V., Bocskei, Z. and Polgar, L. (1998) Cell, 94, 161-70.
29. Juhasz, T., Szeltner, Z. and Polgar, L. (2007) Proteins, 69, 633-43.
30. Tsuji, A., Yuasa, K. and Matsuda, Y. (2004) J. Biochem. (Tokyo), 136, 673-81.
31. Rea, D. and Fulop, V. (2006) Cell Biochem. Biophys., 44, 349-65.
32. Gerczei, T., Keseru, G.M. and Naray-Szabo, G. (2000) J. Mol. Graph Model, 18, 7-17, 57-8.
33. Polgar, L. (1999) Biochemistry, 38, 15548-55.
34. Burleigh, B.A., Caler, E.V., Webster, P. and Andrews, N.W. (1997) J. Cell Biol., 136, 609-20.
35. Caller, E.V., Vaena de Avalos, S., Haynes, P.A., Andrews, N.W. and Burleigh, B.A. (1998) EMBO J., 17, 4975-86.
36. Caler, E.V., Morty, R.E., Burleigh, B.A. and Andrews, N.W. (2000) Infect. Immun., 68, 6602-10.
37. Liu, Y., Patricelli, M.P. and Cravatt, B.F. (1999) Proc. Natl. Acad. Sci. USA, 96, 14694-9.
38. Williams, R.S., Eames, M., Ryves, W.J., Viggars, J. and Harwood, A.J. (1999) EMBO J., 18, 2734-45.
39. Schulz, I., Gerhartz, B.,, Neubauer, A., Holloschi, A., Heiser, U., Hafner, M. and Demuth, H.U. (2002) Eur. J. Biochem., 269, 5813-20.
40. Williams, R.S., Cheng, L., Mudge, A.W. and Harwood, A.J. (2002) Nature, 417, 292-5.
41. Harwood, A.J. and Agam, G. (2003) Biochem. Pharmacol., 66, 179-89.
42. Schulz, I., Zeitschel, U., Rudolph, T., Ruiz-Carrillo, D., Rahfeld, J.U., Gerhartz, B., Bigl, V., Demuth, H.U. and Rossner, S. (2005) J. Neurochem., 94, 970-9.
43. Pintard, L., Kressler, D. and Lapeyre, B. (2000) Mol. Cell Biol., 20, 1370-81.
44. Stockler, S., Holzbach, U., Hanefeld, F., Marquardt, I., Helms, G., Requart, M., Hanicke, W. and Frahm, J. (1994) Pediatr. Res., 36, 409-13.
45. Kleefstra, T., Smidt, M., Banning, M.J., Oudakker, A.R., Van Esch, H., de Brouwer, A.P., Nillesen, W., Sistermans, E.A., Hamel, B.C., de Bruijn, D., Fryns, J.P., Yntema, H.G., Brunner, H.G., de Vries, B.B. and van Bokhoven, H. (2005) J. Med. Genet., 42, 299-306.
46. Kleefstra, T., Brunner, H.G., Amiel, J., Oudakker, A.R., Nillesen, W.M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.P., Hamel, B.C., Sistermans, E.A., de Vries, B.B. and van Bokhoven, H. (2006) Am. J. Hum. Genet., 79, 370-7.
47. Freude, K., Hoffmann, K., Jensen, L.R., Delatycki, M.B., des Portes, V., Moser, B., Hamel, B., van Bokhoven, H., Moraine, C., Fryns, J.P., Chelly, J., Gecz, J., Lenzner, S., Kalscheuer, V.M. and Ropers, H.H. (2004) Am. J. Hum. Genet., 75, 305-9.
48. Terasawa, T., Kobayashi, T., Murakami, T., Ohnishi, M., Kato, S., Tanaka, O., Kondo, H., Yamamoto, H., Takeuchi, T. and Tamura, S. (1993) Arch. Biochem. Biophys., 307, 342-9.
49. Cohen, P. (2004) Topics Curr. Genet Protein Phosphatases, 5, 1-20.
50. Cheng, A., Kaldis, P. and Solomon, M. (2000) J. Biol. Chem., 275, 34744-9.
51. Klumpp, S., Thissen, M. and Krieglstein, J. (2006) Biochem. Soc. Trans., 34, 1370-5.
52. Hanada, M., Kobayashi, T., Ohnishi, M., Ikeda, S., Wang, H., Katsura, K., Yanagawa, Y., Hiraga, A., Kanamaru, R. and Tamura, S. (1998) FEBS Lett., 437, 172-6.
53. Hanada, M., Ninomiya-Tsuji, J., Komaki, K., Ohnishi, M., Katsura, K., Kanamaru, R., Matsumoto, K. and Tamura, S. (2001) J. Biol. Chem., 276, 5753-9.
54. Hamatani, T., Carter, M., Sharov, A. and Ko, M. (2004) Dev. Cell, 6, 117-31.
55. Wang, Q., Piotrowska, K., Ciemerych, M., Milenkovic, L., Scott, M., Davis, R. and Zernicka-Goetz, M. (2004) Dev. Cell, 6, 133-44.
56. Sasaki, M., Ohnishi, M., Tashiro, F., Niwa, H., Suzuki, A., Miyazaki, J., Kobayashi, T. and Tamura, S. (2007) Mech. Dev., 124, 489-99.
57. Basel-Vanagaite, L. (2007) Clin. Genet., 72, 167-74.
58. Najmabadi, H., Motazacker, M., Garshasbi, M., Kahrizi, K., Tzschach, A., Chen, W., Behjati, F., Hadavi, V., Nieh, S., Abedini, S., Vazifehmand, R., Firouzabadi, S., Jamali, P., Falah, M., Seifati, S.M., Gruters, A., Lenzner, S., Jensen, L., Ruschendorf, F., Kuss, A. and Ropers, H. (2007) Hum. Genet., 121, 43-8.