Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders

Journal of Medical Genetics

Volumn 36, Issue 10, 1999, Pages 779-781

  Shimozawa, Nobuyuki ^a   Imamura, Atsushi ^a   Zhang, Zhongyi ^a   Suzuki, Yasuyuki ^a   Orii, Tadao ^b   Tsukamoto, Toshiro ^c   Osumi, Takashi ^c   Fujiki, Yukio ^d   Wanders, Ronald J A ^e   Besley, Guy ^f   Kondo, Naomi ^a  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b CHUBU GAKUIN UNIVERSITY   (Japan)

^c UNIVERSITY OF HYOGO   (Japan)

^d KYUSHU UNIVERSITY   (Japan)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Infantile Refsum disease; Mosaic; PEX gene; Zellweger syndrome

Indexed keywords

DIHYDROXYACETONE PHOSPHATE ACYLTRANSFERASE; MEMBRANE PROTEIN; VERY LONG CHAIN FATTY ACID;

ARTICLE; CHO CELL; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; FATTY ACID OXIDATION; GENETIC TRANSFECTION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MISSENSE MUTATION; MOSAICISM; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN TRANSPORT; REFSUM DISEASE; ZELLWEGER SYNDROME;

EID: 0032873362     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.36.10.779     Document Type: Article

References (11)

1. Lazarow PB, Moser HW. Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular basis of inherited disease. 7th ed. New York: A R Liss, 1995:2287-324.
2. Shimozawa N, Suzuki Y, Zhang Z, et al. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders. Hum Mol Genet 1999;8:1077-83.
3. Shimozawa N, Tsukamoto T, Suzuki Y, et al. A human gene responsible for Zellweger syndrome that affects peroxisome assembly. Science 1992;255:1132-4.
4. Shimozawa N, Suzuki Y, Tomatsu S, et al. A novel mutation, R125X in peroxisome assembly factor-1 responsible for Zellweger syndrome. Hum Mutat 1998;suppl 1:5134-6.
5. Imamura A, Tsukamoto T, Shimozawa N, et al. Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders. Am J Hum Genet 1998;62:1539-43.
6. Shimozawa N, Suzuki Y, Orii T, Yokota S, Hashimoto T. Biochemical and morphologic aspects of peroxisomes in the human rectal mucosa: diagnosis of Zellweger syndrome simplified by rectal biopsy. Pediatr Res 1988;24:723-7.
7. Suzuki Y, Shimozawa N, Yajima S, Yamaguchi S, Orii T, Hashimoto T. Effects of sodium 2-[5-(4-chlorophenyl)pentyl]-oxirane-2-carboxylate (POCA) on fatty acid oxidation in fibroblasts from patients with peroxisomal diseases. Biochem Pharmacol 1991;41:453-6.
8. Tsukamoto T, Miura S, Nakai T, et al. Peroxisome assembly factor-2, a putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant. Nat Genet 1995;11:395-401.
9. Tsukamoto T, Miura S, Fujiki Y. Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant. Nature 1991;350:77-81.
10. Shimozawa N, Suzuki Y, Zhang Z, et al. Genetic basis of peroxisome assembly mutants of humans, CHO cells and yeast: identification of a new complementation group of peroxisome biogenesis disorders, absent from peroxisomal membrane ghosts. Am J Hum Genet 1998;63:1898-903.
11. Reuber BE, Germain-Lee E, Collins CS, et al. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nat Genet 1997;17:445-8.