Mutations in PEX1 in peroxisome biogenesis disorders: G843D and a mild clinical phenotype

Journal of Inherited Metabolic Disease

Volumn 22, Issue 3, 1999, Pages 311-313

  Gartner J ^a   Preuss, N ^a   Brosius, U ^a   Biermanns, M ^a  

^a HEINRICH HEINE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE;

AUTOSOMAL RECESSIVE INHERITANCE; BIOGENESIS; CASE REPORT; CELL FUSION; CHILD; CONFERENCE PAPER; ENZYME ACTIVITY; GENE MUTATION; HUMAN; HUMAN CELL; INFANT; PEROXISOME; PHENOTYPE; SOMATIC CELL;

ASPARTIC ACID; CHILD; GLYCINE; HUMANS; INFANT; MEMBRANE PROTEINS; MICROBODIES; MUTATION; PEROXISOMAL DISORDERS; PHENOTYPE; ZELLWEGER SYNDROME;

EID: 16744367573     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005599903632     Document Type: Conference Paper

References (8)

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2. Dyer JM, McNew JA, Goodman JM (1996) The sorting sequence of the peroxisomal integral membrane protein PMP47 is contained within a short hydrophilic loop. J Cell Biol 133: 269-280.
3. Gärtner J, Moser H, Valle D (1992) Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndrome. Nature Genetics 1: 16-23.
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5. Lazarow PB, Moser HW (1995) Disorders of peroxisome biogenesis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2287-2324.
6. Portsteffen H, Beyer A, Becker E, et al (1997) Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders. Nature Genetics 17: 449-452.
7. Reuber BE, Germain-Lee E, Collins CS, et al (1997) Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders. Nature Genetics 17: 445-448.
8. Swinkels BW, Gould SJ, Bodnar AG, Rachubinski RA, Subramani SA (1991) A novel, cleavable peroxisomal targeting signal at the amino-terminus of the rat 3-ketoacyl-CoA thiolase. EMBO J 10: 3255-3262.