Zellweger syndrome and associated phenotypes

Journal of Medical Genetics

Volumn 33, Issue 10, 1996, Pages 863-868

  FitzPatrick, David R ^a  

^a NHS LOTHIAN   (United Kingdom)

Author keywords

Peroxisomal disorders; Zellweger syndrome

Indexed keywords

ACETYL COENZYME A ACETYLTRANSFERASE; DOCOSAHEXAENOIC ACID; HYDROGEN PEROXIDE; OXIDOREDUCTASE;

ARTICLE; BIOCHEMISTRY; CLINICAL TRIAL; DEVELOPMENTAL DISORDER; DISORDERS OF PEROXISOMAL FUNCTIONS; FACE DYSMORPHIA; HEPATOMEGALY; HUMAN; KIDNEY CYST; MUSCLE HYPOTONIA; ORAL DRUG ADMINISTRATION; PERCEPTION DEAFNESS; PEROXISOME; PHENOTYPE; PRIORITY JOURNAL; RETINA DISEASE; ZELLWEGER SYNDROME;

EID: 0029905802     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.10.863     Document Type: Article

References (19)

1. Baudhuin P, Beaufay H, De Duve C. Combined biochemical and morphological study of paniculate fractions from rat livers. J Cell Biol 1965;26:219.
2. Cavalier-Smith T. The simultaneous symbiotic origin of mitochondria, chloroplasts and microbodies. Ann NY Acad Sci 1987;503:55-71.
3. Lazarow PB, Fujiki Y. Biogenesis of peroxisomes. Annu Rev Cell Biol 1985;1:489-530.
4. Walton P. Import of stably folded proteins into peroxisomes. International symposium. Peroxisomes: biology and role in toxicology and disease, 1995:abstract 002.
5. Subramani S. Protein import into peroxisomes and biogenesis of the organelle. Annu Rev Cell Biol 1993;9:445-78.
6. Gould SJ, Keller GA, Hoskin N, Wilkinson J, Subramani S. A conserved tripeptide sorts proteins to peroxisomes. J Cell Biol 1989;108:1657-64.
7. Swinkels BW, Gould SJ, Bodnar AG, Rachubinski RA, Subramani S. A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO J 1991;10:3255-62.
8. Rao MS, Reddy JK. An overview of peroxisome proliferator-induced hepatocarcinogenesis. Environ Health Perspect 1991;93:205-9.
9. Veenhuis M, Mateblowski M, Kunau WH, Harder W. Proliferation of microbodies in Saccharomyces cerevisiae. Yeast 1987;3:77-84.
10. Van den Bosch H, Schutgens RBH, Wanders RJA, Tager JM. Biochemistry of peroxisomes. Annu Rev Biochem 1992;61:157-97.
11. Bowen P, Lee CSN, Zellweger H, Lindenberg R. A familial syndrome of multiple congenital defects. Bull Johns Hopkins Hosp 1964;114:402-14.
12. Opitz JM, ZuRhein GM, Vitale L, et al. The Zellweger syndrome (cerebro-hepato-renal syndrome). Birth Defects 1969;V(2):144-60.
13. Goldfischer S, Moore CL, Johnson AB, et al. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome. Science 1973;182:62-4.
14. Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular basis of inherited disease. 7th ed. New York: McGraw- Hill, 1995:2287-324.
15. Goldfisher S, Collins J, Rapin I, et al. Pseudo-Zellwegers syndrome: deficiencies in several peroxisomal oxidative activities. J Pediatr 1986;108:25-32.
16. Schram AW, Goldfischer S, van Roermund CWT, et al. Human peroxisomal 3-oxoacyl-coenzyme A thiolase deficiency. Proc Natl Acad Sci USA 1987;84:2494-6.
17. Poll-The BT, Roels F, Ogier H, et al. A neu- peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 1988;42:422-34.
18. Watkins PA, Chen WW, Harris CJ, et al. Peroxisomal bifunctional enzyme deficiency. J Clin Invest 1989;83:771-7.
19. Zellweger H. The cerebro-hepato-renal (Zellweger) syndrome and other peroxisomal disorders. Dev Med Child Neurol 1987;29:821-5.