Molecular and cell biology of primary hyperoxaluria type 1

This publication has 9 references indexed in Scilit:

• Primary hyperoxaluria type 1: Genotypic and phenotypic heterogeneity
  Journal of Inherited Metabolic Disease, 1994
• Molecular characterization and clinical use of a polymorphic tandem repeat in an intron of the human alanine: Glyoxylate aminotransferase gene
  Human Genetics, 1994
• ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case.
  The Journal of cell biology, 1993
• Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation.
  1993
• A serine-to-phenylalanine substitution leads to loss of alanine: glyoxylate aminotransferase catalytic activity and immunoreactivity in a patient with primary hyperoxaluria type 1
  Human Molecular Genetics, 1992
• A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1
  Genomics, 1992
• An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1
  Human Genetics, 1991
• Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1.
  The Journal of cell biology, 1990
• An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria.
  The Journal of cell biology, 1989