|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This approach is tested using large-scale experimental and structural perturbation analyses in over thirty mutations in three different proteins (cancer-associated NQO1, transthyretin related with amyloidosis and AGT linked to primary hyperoxaluria type I) and comprising five very common pathogenic mechanisms (loss-of-function and gain-of-toxic function aggregation, enzyme inactivation, protein mistargeting and accelerated degradation).
|
30215702 |
2019 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this chapter, we focus on a particular disease, primary hyperoxaluria type 1 (PH1), in which disease-associated mutations exacerbate protein aggregation in the cell and mistarget the peroxisomal alanine:glyoxylate aminotransferase (AGT) protein to mitochondria, in part due to native state destabilization and enhanced interaction with Hsp60, 70 and 90 chaperone systems.
|
30635080 |
2019 |
|
Primary hyperoxaluria, type I
|
0.100 |
Biomarker
|
disease |
BEFREE |
These studies open up the possibility that all PH1 mutations, which segregate with the minor allele, might also lead to the peroxisome-to-mitochondrion mistargeting of AGT, a suggestion that has important implications for the development of treatment strategies for PH1.
|
23229545 |
2013 |
|
Primary hyperoxaluria, type I
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our work support that a misbalance between denaturation energetics and interactions with chaperones underlie aggregation and mistargeting in PH1, suggesting that native state stabilizers and protein homeostasis modulators are potential drugs to restore the complex and delicate balance of AGT protein homeostasis in PH1.
|
24205397 |
2013 |
|
Primary hyperoxaluria, type I
|
0.100 |
Biomarker
|
disease |
BEFREE |
Primary hyperoxaluria type I (PH1) is an inborn error of metabolism caused by deficiency of the hepatic enzyme alanine-glyoxylate aminotransferase (AGXT or AGT) which leads to overproduction of oxalate by the liver and subsequent urolithiasis and renal failure.
|
21119625 |
2011 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive, inherited disorder of glyoxylate metabolism arising from a deficiency of the alanine:glyoxylate aminotransferase (AGT) enzyme, encoded by the AGXT gene.
|
19479957 |
2009 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To test for specific mutations in the alanine:glyoxylate aminotransferase (AGT) gene, in order to diagnose primary hyperoxaluria type 1 (PH1).
|
18282470 |
2008 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
More than 50 mutations and polymorphisms have been reported in the AGT gene; three common mutations accounting for almost 50% of PH1 alleles.
|
15464418 |
2005 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe 7 novel mutations occurring on the major allele of the human AGT gene in patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44).
|
15110324 |
2004 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a novel missense mutation (A112D) and polymorphism (V326I) in the human AGT gene in two black African patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT; EC 2.6.1.44).
|
12559847 |
2003 |
|
Primary hyperoxaluria, type I
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe three novel deletions in the human AGT gene in three patients with primary hyperoxaluria type 1, an autosomal recessive disease resulting from a deficiency of the liver peroxisomal enzyme, alanine glyoxylate aminotransferase (AGT; EC 2.6.1.44).
|
11708860 |
2001 |
|
Primary hyperoxaluria, type I
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We have synthesized and sequenced alanine:glyoxylate aminotransferase (AGT; HGMW-approved symbol for the gene--AGXT) cDNA from the liver of a primary hyperoxaluria type 1 (PH1) patient who had normal levels of hepatic peroxisomal immunoreactive AGT protein, but no AGT catalytic activity.
|
1349575 |
1992 |