Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

Item

http://www.wikidata.org/entity/Q24670805

Q24670805

about

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I Primary hyperoxaluria type 1: a cluster of new mutations in exon 7 of the AGXT gene.A single amino acid substitution within the mature sequence of ornithine aminotransferase obstructs mitochondrial entry of the precursor Rat pristanoyl-CoA oxidase. cDNA cloning and recognition of its C-terminal (SQL) by the peroxisomal-targeting signal 1 receptor Selected AGXT gene mutations analysis provides a genetic diagnosis in 28% of Tunisian patients with primary hyperoxaluria.S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.Allele-specific characterization of alanine: glyoxylate aminotransferase variants associated with primary hyperoxaluria High throughput cell-based assay for identification of glycolate oxidase inhibitors as a potential treatment for Primary Hyperoxaluria Type 1 Four of the most common mutations in primary hyperoxaluria type 1 unmask the cryptic mitochondrial targeting sequence of alanine:glyoxylate aminotransferase encoded by the polymorphic minor allele.Protein homeostasis defects of alanine-glyoxylate aminotransferase: new therapeutic strategies in primary hyperoxaluria type I.Primary hyperoxaluria type III--a model for studying perturbations in glyoxylate metabolism.Comparative analysis of an experimental subcellular protein localization assay and in silico prediction methods.Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.Biochemical analyses are instrumental in identifying the impact of mutations on holo and/or apo-forms and on the region(s) of alanine:glyoxylate aminotransferase variants associated with primary hyperoxaluria type I.Molecular Insight into the Synergism between the Minor Allele of Human Liver Peroxisomal Alanine:Glyoxylate Aminotransferase and the F152I Mutation Molecular evolution of alanine/glyoxylate aminotransferase 1 intracellular targeting. Analysis of the feline gene.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 mistargeti

P2860

Q24298393-1EC5BAD6-A08F-4859-B755-02BA64601DCC Q24517930-049C4765-4AA5-4BD1-9D3C-0724D30857F9 Q28297087-D4DB0D00-05AD-4289-8488-FEB6D9915505 Q28575775-B43D1BE8-8391-4E68-B10F-5346A3450B7E Q33911824-5D3CF760-F2DF-40CF-9A22-0DFD7F83D9AD Q34379056-C7E8FD1E-7F96-47A0-B81F-F110A2022CF2 Q35144060-D971C084-2429-413A-BC92-F8D80390D2CC Q36145370-6255BA42-9B9D-43B1-A2CF-F7D2D1000153 Q36562007-F6EA2A84-62DC-4407-864C-10F59330D55A Q38129886-B40F1325-B64A-4DAA-A331-2085202AC135 Q39325975-E4013DC8-0FC2-413A-A013-1461B10C92DD Q39493750-D7836B0D-5FE0-4E9F-8239-409DD2957A7E Q40015456-69386499-3E07-41A9-BCAD-181B74FF8B94 Q40821949-ACF88C6F-C280-4EF3-A1E5-A796F41C2874 Q42103822-A335A360-DF3E-4F71-9BE3-A9C0A3B68910 Q42605044-82F81989-D6D8-4ED6-9B24-FCB4CBAE2A50 Q42771608-8271797A-AB3B-4E95-AAF6-1D068CFDC322

P2860

Enzymological and mutational analysis of a complex primary hyperoxaluria type 1 phenotype involving alanine:glyoxylate aminotransferase peroxisome-to-mitochondrion mistargeting and intraperoxisomal aggregation

Item

http://www.wikidata.org/entity/Q24670805

description

1993 nî lūn-bûn

@nan

1993 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

@hyw

1993 թվականի օգոստոսին հրատարակված գիտական հոդված

@hy

1993年の論文

@ja

1993年論文

@yue

1993年論文

@zh-hant

1993年論文

@zh-hk

1993年論文

@zh-mo

1993年論文

@zh-tw

1993年论文

@wuu