The molecular basis of alanine: Glyoxylate aminotransferase mistargeting: The most common single cause of primary hyperoxaluria type 1

Journal of Nephrology

Volumn 11, Issue SUPPL. 1, 1998, Pages 8-12

  Danpure, Christopher J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

Alanine:glyoxylate aminotransferase; Genetic calcium oxalate stone disease; Mitochondrial protein targeting; Peroxisomal protein targeting; Primary hyperoxaluria type 1

Indexed keywords

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTOSOMAL RECESSIVE INHERITANCE; CONFERENCE PAPER; DISEASE CLASSIFICATION; GENE MUTATION; HUMAN; HYPEROXALURIA;

GENES, RECESSIVE; HUMANS; HYPEROXALURIA, PRIMARY; MICROBODIES; MITOCHONDRIA, LIVER; MUTATION; POLYMORPHISM, GENETIC; TRANSAMINASES;

EID: 0031980514     PISSN: 11218428     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (22)

1. Danpure CJ, Purdue PE. Primary hyperoxaluria. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease. 7th ed. New York: McGraw-Hill; 1995; 2385-424.
2. Danpure CJ, Smith LH. The primary hyperoxalurias. In: Coe FL, Favus MJ, Pak CY, Parks JH, Preminger GM, eds. Kidney stones: medical and surgical management. Philadelphia: Lippincott-Raven; 1996; 859-81.
3. Barratt TM, Danpure CJ. Hyperoxaluria. In: Holliday MA, Barratt TM, Avner ED, eds. Pediatric Nephrology. 3rd ed. Baltimore: Williams & Wilkins; 1994; 557-72.
4. Danpure CJ, Jennings PR. Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I. FEBS Lett 1986;201:20-4.
5. Danpure CJ, Jennings PR, Fryer P, Purdue PE, Allsop J. Primary hyperoxaluria type 1 : genotypic and phenotypic heterogeneity. J Inherit Metab Dis 1994;17:487-99.
6. Danpure CJ, Rumsby G. Enzymology and molecular genetics of primary hyperoxaluria type 1. Consequences for clinical management. In: Khan SR, ed. Calcium oxalate in biological systems. Boca Raton, Florida: CRC Press; 1995; 189-205.
7. Cooper PJ, Danpure CJ, Wise PJ, Guttridge KM. Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1. J Histochem Cytochem 1988;36:1285-94.
8. Purdue PE, Takada Y, Danpure CJ. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol 1990;111:2341-51.
9. Danpure CJ, Cooper PJ, Wise PJ, Jennings PR. An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria. J Cell Biol 1989; 108: 1345-52.
10. Purdue PE, Lumb MJ, Fox M, et al. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase. Genomics 1991; 10: 34-42.
11. Takada Y, Kaneko N, Esumi H, Purdue PE, Danpure CJ. Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem J 1990; 268: 517-20.
12. Danpure CJ, Birdsey GM, Rumsby G, Lumb MJ, Purdue PE, Allsop J. Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine:glyoxylate aminotransferase gene. Hum Genet 1994; 94: 55-64.
13. Danpure CJ. Advances in the molecular biology of primary hyperoxaluria type 1 and their consequences for clinical management. In: Jungers P, Daudon M, eds. Renal stone disease. Crystallization processes, pathophysiology, metabolic disorders and prevention. Paris: Elsevier; 1997; 35-40.
14. Danpure CJ, Rumsby G. Strategies for the prenatal diagnosis of primary hyperoxaluria type 1. Prenat Diagn 1996; 16: 587-98.
15. Lill R, Nargang FE, Neupert W. Biogenesis of mitochondrial proteins. Curr Opin Cell Biol 1996; 8: 505-12.
16. Lithgow T, Cuezva JM, Silver PA. Highways for protein delivery to the mitochondria. Trends Biochem Sci 1997; 22: 110-3.
17. Subramani S. Convergence of model systems for peroxisome biogenesis. Curr Opin Cell Biol 1996; 8: 513-8.
18. Erdmann R, Veenhuis M, Kunau WH. Peroxisomes: organelles at the crossroads. Trends Cell Biol 1997; 7: 400-7.
19. Leiper JM, Oatey PB, Danpure CJ. Inhibition of alanine:glyoxylate aminotransferase dimerizadon is a pre-requisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1. J Cell Biol 1996; 135: 939-51.
20. Motley A, Lumb MJ, Oatey PB, et al. Mammalian alanine:glyoxylate aminotransferase 1 is imported into peroxisomes via the PTS1 translocation pathway. Increased degeneracy and context specificity of the mammalian PTS1 motif and implications for the peroxisome-to-mitochondrion mistargeting of AGT in primary hyperoxaluria type 1. J Cell Biol 1995; 131: 95-109.
21. Purdue PE, Allsop J, Isaya G, Rosenberg LE, Danpure CJ. Mistargeting of peroxisomal L-alanine:glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc Natl Acad Sci USA 1991; 88: 10900-4.
22. Leiper JM, Danpure CJ. The role of dimerization of alanine:glyoxylate aminotransferase 1 in its peroxisomal and mitochondrial import. Ann NY Acad Sci 1996; 804: 765-7.