Genetic and molecular bases of peroxisome biogenesis disorders

Genetics in Medicine

Volumn 3, Issue 5, 2001, Pages 372-376

  Suzuki, Yasuyuki ^a   Shimozawa, Nobuyuki ^a   Orii, Tadao ^a   Tsukamoto, Toshiro ^a   Osumi, Takashi ^a   Fujiki, Yukio ^a   Kondo, Naomi ^a  

^a GIFU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL DERIVATIVE; GENE PRODUCT; PEROXISOME PROLIFERATOR; VERY LONG CHAIN FATTY ACID;

AUTOSOMAL RECESSIVE DISORDER; BIOGENESIS; CLINICAL FEATURE; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISORDERS OF PEROXISOMAL FUNCTIONS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC HETEROGENEITY; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MOLECULAR DYNAMICS; PATHOPHYSIOLOGY; PHENOTYPE; REVIEW;

EID: 0035746487     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200109000-00007     Document Type: Review

References (57)

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3. Lipid metabolism in peroxisomes: Enzymology, functions and dysfunctions of the fatty acid alpha- and beta-oxidation systems in humans
4. Severe plasmalogen deficiency in tissues of infants without peroxisomes (Zellweger syndrome)
5. Variable peroxisomal and mitochondrial targeting of alanine: Glyoxylate aminotransferase in mammalian evolution and disease
6. Severe deficiency of docosahexaenoic acid in peroxisomal disorders: A defect of delta 4 desaturation?
7. Peroxisomal protein targeting and identification of peroxisomal targeting signals in cholesterol biosynthetic enzymes
8. A familial syndrome of multiple congenital defects
9. Adrenoleukodystrophy. Preliminary report of a connatal case. Light- and electron microscopical, immunohistochemical and biochemical findings
10. Infantile phytanic acid storage disease, a possible variant of Refsum's disease: Three cases, including ultrastructural studies of the liver
11. Rhizomelic chondrodysplasia punctata: Another peroxisomal disorder
12. Peroxisomal and mitochondrial defects in the cerebro-hepato-renal syndrome
13. Cerebro-hepato-renal (Zellweger) syndrome and neonatal adrenoleukodystrophy: Similarities in phenotype and accumulation of very long chain fatty acids
14. Disorders of peroxisome biogenesis
15. Cerebro-hepato-renal syndrome of Zellweger: An inherited disorder of neuronal migration
16. Peroxisomal membrane ghosts in Zellweger syndrome-aberrant organelle assembly
17. 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
18. Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders
19. Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions
20. Genetic and phenotypic heterogeneity in disorders of peroxisome biogenesis - A complementation study involving cell lines from 19 patients
21. Complementation study of peroxisome-deficient disorders by immunofluorescence staining and characterization of fused cells
22. Restoration by a 35K membrane protein of peroxisome assembly in a peroxisome-deficient mammalian cell mutant
23. A human gene responsible for Zellweger syndrome that affects peroxisome assembly
24. Molecular mechanisms of detectable catalase-containing particles, peroxisomes, in fibroblasts from a PEX2-defective patient
25. Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders
26. Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
27. Peroxisome assembly factor-2: A putative ATPase cloned by functional complementation on a peroxisome-deficient mammalian cell mutant
28. Disruption of a PEX1-PEX6 interaction is the most common cause of the neurologic disorders Zellweger syndrome, neonatal adrenoleukodystrophy, and infantile Refsum disease
29. Human peroxisome assembly factor-2 (PAF-2): A gene responsible for group C peroxisome biogenesis disorder in humans
30. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders
31. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import
32. Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders
33. Human PEX1 is mutated in complementation group 1 of the peroxisome biogenesis disorders
34. Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders
35. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
36. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
37. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
38. PEX7 gene structure, alternative transcripts, and evidence for a founder haplotype for the frequent RCDP allele, L292ter
39. Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders
40. Mutations in PEX10 is the cause of Zellweger peroxisome deficiency syndrome of complementation group B
41. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D
42. Human PEX19: cDNA cloning by functional complementation, mutation analysis is a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly
43. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis
44. Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p
45. Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
46. Involvement of Pex13p in Pex14p localization and peroxisomal targeting signal 2-dependent protein import into peroxisomes
47. Peroxisomal assembly defects: Clinical, pathologic, and biochemical findings in two patients in a newly identified complementation group
48. Identification of PEX3 as the gene mutated in a Zellweger patient lacking peroxisomal remnant structure
49. The peroxin pex3p initiates membrane assembly in peroxisome biogenesis
50. Phenotype of patients with peroxisomal disorders subdivided into sixteen complementation groups
51. Temperature-sensitive mutation of PEX6 in peroxisome biogenesis disorders in complementation group C (CG-C): Comparative study of PEX6 and PEX1
52. Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase deficiencies
53. Isolated dihydroxyacetonephosphate-acyl-transferase deficiency in rhizomelic chondrodysplasia punctata: Clinical presentation, metabolic and histological findings
54. Docosahexaenoic acid - A new therapeutic approach to peroxisomal-disorder patients: Experience with two cases
55. MRI evidence that docosahexaenoic acid ethyl ester improves myelination in generalized peroxisomal disorders
56. A mouse model for Zellweger syndrome
57. Targeted deletion of the PEX2 peroxisome assembly gene in mice provides a model for Zellweger syndrome, a human neuronal migration disorder