Mutations in the Δ7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 95, Issue 14, 1998, Pages 8181-8186

  Fitzky, Barbara U ^a   Witsch Baumgartner, Martina ^b   Erdel, Martin ^b   Lee, Joon No ^c   Paik, Young Ki ^c   Glossmann, Hartmut ^a   Utermann, Gerd ^b   Moebius, Fabian F ^a  

^a UNIVERSITY OF INNSBRUCK   (Austria)

^b Inst F Med Biol und Humangenetik   (Austria)

^c Yonsei University   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CATALYSIS; CHOLESTEROL SYNTHESIS; CHROMOSOME 11Q; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; HUMAN; HUMAN CELL; MENTAL DEFICIENCY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SMITH LEMLI OPITZ SYNDROME; AMINO ACID SEQUENCE; ANIMAL; CHROMOSOME 11; CHROMOSOME MAP; FEMALE; GENETICS; MALE; MOLECULAR CLONING; MOLECULAR GENETICS; MOUSE; MUTATION; SEQUENCE ALIGNMENT;

LATHOSTEROL DELTA 5 DEHYDROGENASE; LATHOSTEROL DELTA-5-DEHYDROGENASE; OXIDOREDUCTASE;

AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 11; CLONING, MOLECULAR; FEMALE; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OXIDOREDUCTASES; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SEQUENCE ALIGNMENT; SMITH-LEMLI-OPITZ SYNDROME;

EID: 0032493196     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.95.14.8181     Document Type: Article

References (19)

1. Smith, D. W., Lemli, L. & Opitz, J. M. (1964) J. Pediatr. 64, 210-217.
2. Tint, G. S., Irons, M., Elias, E. R., Batta, A. K., Frieden, R., Chen, T. S. & Salen, G. (1994) N. Engl. J. Med. 330, 107-113.
3. Brown, M. S. & Goldstein, J. L. (1997) Cell 89, 331-340.
4. Moebius, F. F., Fitzky, B. U., Lee, J. N., Paik, Y.-K. & Glossmann, H. (1998) Proc. Natl. Acad. Sci. USA 95, 1899-1902.
5. Budowle, B., Chakraborty, R., Giusti, A. M., Eisenberg, A. J. & Allen, R. C. (1991) Am. J. Hum. Genet. 48, 137-144.
6. Weiskirchen, R., Erdel, M., Utermann, G. & Bister, K. (1997) Genomics 44, 83-93.
7. Sinnegger, M. J., Wang, Z., Grabner, M., Hering, S., Striessnig, J., Glossmann, H. & Mitterdorfer, J. (1997) J. Biol. Chem. 272, 27686-27693.
8. Neuhuber, B., Gerster, U., Mitterdorfer, J., Glossmann, H. & Flucher, B. E. (1998) J. Biol. Chem. 273, 9110-9118.
9. Mitterdorfer, J., Sinnegger, M. J., Grabner, M., Striessnig, J. & Glossmann, H. (1995) Biochemistry 34, 9350-9355.
10. Hanner, M., Moebius, F. F., Weber, F., Grabner, M., Striessnig, J. & Glossmann, H. (1995) J. Biol. Chem. 270, 7551-7557.
11. Hofmann, K. & Stoffel, W. (1993) Biol. Chem. Hoppe-Seyler 347, 166.
12. Hanner, M., Moebius, F. F., Flandorfer, A., Knaus, H.-G., Striessnig, J., Kempner, E. & Glossmann, H. (1996) Proc. Natl. Acad. Sci. USA 93, 8072-8077.
13. Herz, J., Willnow, T. E. & Farese, R. V. (1997) Nat. Genet. 15, 123-124.
14. Ye, Q. & Worman, H. J. (1994) J. Biol. Chem. 269, 11306-11311.
15. Jung, M., Sommer, I., Schachner, M. & Nave, K.-A. (1996) J. Neurosci. 16, 7920-7929.
16. Oksche, A., Schuelein, R., Rutz, C., Liebenhoff, U., Dickson, J., Mueller, H., Birnbaumer, M. & Rosenthal, W. (1996) Mol. Pharmacol. 50, 820-828.
17. Shefer, S., Salen, G., Batta, A. K., Honda, A., Tint, G. S., Irons, M., Elias, E. R., Chen, T. C. & Holick, M. F. (1995) J. Clin. Invest. 96, 1779-1785.
18. Alley, T. L., Scherer, S. W., Huizenga, J. J., Tsui, L.-C. & Wallace, M. R. (1997) Am. J. Med. Gen. 68, 279-281.
19. Ullrich, K., Koch, H. G., Meschede, D., Flotmann, U. & Seedorf, U. (1996) Neuropediatrics 27, 111-112.