Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver

Advances in Experimental Medicine and Biology

Volumn 544, Issue , 2003, Pages 107-111

  Gootjes, Jeannette ^a   Mandel, Hanna ^b   Mooijer, Petra A W ^a   Roels, Frank ^c   Waterham, Hans R ^a   Wanders, Ronald J A ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b RAMBAM MEDICAL CENTER   (Israel)

^c GHENT UNIVERSITY   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

CATALASE; MEMBRANE PROTEIN; PEROXIN; PEROXISOMAL MEMBRANE PROTEIN 2; UNCLASSIFIED DRUG;

ADRENOLEUKODYSTROPHY; BIOGENESIS; CONFERENCE PAPER; DISEASE SEVERITY; DISORDERS OF PEROXISOMAL FUNCTIONS; GENE MUTATION; GENE STRUCTURE; GENETIC COMPLEMENTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; IMMUNOFLUORESCENCE; LIVER DISEASE; MOLECULAR GENETICS; MOSAICISM; MUTATIONAL ANALYSIS; PEROXISOME; PRIORITY JOURNAL; PROTEIN MOTIF; REFSUM DISEASE; ZELLWEGER SYNDROME;

EID: 1542373508     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-9072-3_15     Document Type: Conference Paper

References (10)

1. Barth, P.G., Gootjes, J., Bode, H., Vreken, P., Majoie, C.B., Wanders, R.J., 2001, Late onset white matter disease in peroxisome biogenesis disorder. Neurology 57: 1949-1955.
2. Brul, S., Westerveld, A., Strijland, A., Wanders, R.J., Schram, A.W., Heymans, H.S., Schutgens, R.B., van den Bosch, H., Tager, J.M., 1988, Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis. J.Clin.Invest. 81: 1710-1715.
3. Gould, S.J., Raymond, G.V., Valle, D., 2001, The peroxisome biogenesis disorders. In: Scriver C.R., Beaudet A.L., Valle D., Sly W.S., editors. The metabolic and molecular bases of inherited disease, 8th ed. New York: McGraw-Hill, p 3181-3217.
4. Gould, S.J. and Valle, D., 2000, Peroxisome biogenesis disorders: genetics and cell biology. Trends Genet. 16: 340-345.
5. Imamura A., Shimozawa N., Suzuki Y., Zhang Z., Tsukamoto T., Fujiki Y., Orii T., Osumi T., Kondo N., 2000, Restoration of biochemical function of the peroxisome in the temperature-sensitive mild forms of peroxisome biogenesis disorder in humans. Brain Dev. 22: 8-12.
6. Kelley, R.I., Datta, N.S., Dobyns, W.B., Hajra, A.K., Moser, A.B., Noetzel, M.J., Zackai, E.H., Moser, H.W., 1986, Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromes. Am. J. Med. Genet. 23: 869-901.
7. Mandel, H., Espeel, M., Roels, F., Sofer, N., Luder, A., Iancu, T.C., Aizin, A., Berant, M., Wanders, R.J., Schutgens, R.B., 1994 A new type of peroxisomal disorder with variable expression in liver and fibroblasts. J.Pediatr. 125: 549-555.
8. Poll-The, B.T., Saudubray, J.M., Ogier, H.A., Odievre, M., Scotto, J.M., Monnens, L., Govaerts, L.C., Roels, F., Cornelis, A., Schutgens, R.B., 1987, Infantile Refsum disease: an inherited peroxisomal disorder. Comparison with Zellweger syndrome and neonatal adrenoleukodystrophy. Eur.J.Pediatr. 146: 477-483.
9. Shimozawa, N., Tsukamoto, T., Suzuki, Y., Orii, T., Shirayoshi, Y., Mori, T., Fujiki, Y., 1992, A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 255: 1132-1134.
10. van Grunsven, E.G., van Berkel, E., Mooijer, P.A., Watkins, P.A., Moser, H.W., Suzuki, Y., Jiang, L.L., Hashimoto, T., Hoefler, G., Adamski, J., Wanders, R.J., 1999, Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis. Am. J. Hum. Genet. 64: 99-107.