Identification of PEX3 as the gene mutated in a Zellweger syndrome patient lacking peroxisomal remnant structures

Human Molecular Genetics

Volumn 9, Issue 13, 2000, Pages 1995-1999

  Shimozawa, Nobuyuki ^a,b   Suzuki, Yasuyuki ^a,b   Zhang, Zhongyi ^a,b   Imamura, Atsushi ^a,b   Ghaedi, Kamran ^b   Fujiki, Yukio ^b   Kondo, Naomi ^a,b  

^a GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MATRIX PROTEIN; MEMBRANE PROTEIN; PROTEIN PEX3P; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; BIOGENESIS; CASE REPORT; CHO CELL; CODON; CONTROLLED STUDY; DISORDERS OF PEROXISOMAL FUNCTIONS; FIBROBLAST; GENE INSERTION; GENE ISOLATION; GENE MUTATION; GENETIC CODE; GENETIC COMPLEMENTATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; INFANT; MALE; MEMBRANE FORMATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PEROXISOME; PRIORITY JOURNAL; PROTEIN LOCALIZATION; ZELLWEGER SYNDROME;

ANIMALIA;

EID: 0034641604     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.13.1995     Document Type: Article

References (19)

1. 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
2. Genotype-phenotype correlations in disorders of peroxisome biogenesis
3. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D
4. Peroxisome synthesis in the absence of preexisting peroxisomes
5. Human PEX19: CDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly
6. Cloning and characterization of the gene encoding the human peroxisomal assembly protein Pex3p
7. Identification and characterization of the human peroxin PEX3
8. The human PEX3 gene encoding a peroxisomal assembly protein: Genomic organization, positional mapping, and mutation analysis in candidate phenotypes
9. Saccharomyces cerevisiae pex3p and pex19p are required for proper localization and stability of peroxisomal membrane proteins
10. Isolation and characterization of novel peroxisome biogenesis-defective Chinese hamster ovary cell mutants using green fluorescent protein
11. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis
12. PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders
13. Isolation and characterization of Pas2p, a peroxisomal membrane protein essential for peroxisome biogenesis in the methylotrophic yeast Pichia pastoris
14. Pex19p, a farnesylated protein essential for peroxisome biogenesis
15. Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
16. Complementation study of peroxisome-deficient staining and characterization of fused cells
17. A human gene responsible for Zellweger syndrome that affects peroxisome assembly
18. Insertion of the 70-kDa peroxisomal membrane protein into peroxisomal membranes in vivo and in vitro
19. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders