Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase
about
C-terminal tripeptide Ser-Asn-Leu (SNL) of human D-aspartate oxidase is a functional peroxisome-targeting signalAn amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor proteinRat pristanoyl-CoA oxidase. cDNA cloning and recognition of its C-terminal (SQL) by the peroxisomal-targeting signal 1 receptorFour 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.Effects of alanine:glyoxylate aminotransferase variants and pyridoxine sensitivity on oxalate metabolism in a cell-based cytotoxicity assay.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 mistargetiWhole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis.
P2860
Q22008020-69CD9033-B439-4EFC-B4BF-63D35C4E0438Q24671658-C83E5B62-93B3-459F-9987-AE7150B115EBQ28575775-6DE18E0B-A9F0-4700-B157-AEDEBD0AB257Q36562007-90449812-D8EC-4BCA-ADD2-C3AA81DDF558Q40015456-7AF2F3D6-BD46-4241-83A1-59EF21988CD1Q42771608-A0A0F509-F54D-4AC3-95DF-44E41F123338Q46964230-21F100D6-CE22-4F6F-9333-441A1CF48DBA
P2860
Primary hyperoxaluria type 1 and peroxisome-to-mitochondrion mistargeting of alanine:glyoxylate aminotransferase
description
1993 nî lūn-bûn
@nan
1993 թուականին հրատարակուած գիտական յօդուած
@hyw
1993 թվականին 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
name
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@ast
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@en
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@nl
type
label
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@ast
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@en
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@nl
prefLabel
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@ast
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@en
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@nl
P1433
P1476
Primary hyperoxaluria type 1 a ...... ne:glyoxylate aminotransferase
@en
P2093
C J Danpure
P304
P356
10.1016/0300-9084(93)90091-6
P407
P577
1993-01-01T00:00:00Z