Identification of Mutations Associated with Peroxisome-to-Mitochondrion Mistargeting of Alanine/Glyoxylate Aminotransferase in Primary Hyperoxaluria Type 1

We have previously shown that in some patients with primary hyperoxaluria type 1 (PH1), disease is associated with mistargeting of the normally peroxisomal enzyme alanine/glyoxylate aminotransferase (AGT) to mitochondria. We have synthesized, amplified, cloned, and sequenced AGT cDNA from a PH1 pati...

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Veröffentlicht in:	The Journal of cell biology 1990-12, Vol.111 (6), p.2341-2351
Hauptverfasser:	Purdue, P. Edward, Takada, Yoshikazu, Danpure, Christopher J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alanine Transaminase - genetics Alleles Amino Acid Sequence Base Sequence Biological and medical sciences Cloning, Molecular Complementary DNA DNA Enzymes Errors of metabolism Genes Genetic mutation Humans Hyperoxaluria - enzymology Hyperoxaluria - genetics Introns Liver Liver - enzymology Medical sciences Metabolic diseases Microbodies - enzymology Miscellaneous hereditary metabolic disorders Mitochondria Mitochondria, Liver - enzymology Molecular Sequence Data Mutation Nucleotides Oligonucleotide Probes Peroxisomes Plasmids Poly A - genetics Poly A - isolation & purification Polymerase Chain Reaction Protein Conformation Protein Processing, Post-Translational Reference Values Restriction Mapping RNA - genetics RNA - isolation & purification RNA, Messenger Transaminases
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