Molecular etiology of primary hyperoxaluria type 1: new directions for treatment (Q28257183)

primary hyperoxaluria type I

Europe PubMed Central

title

Molecular etiology of primary hyperoxaluria type 1: new directions for treatment (English)

0 references

main subject

primary hyperoxaluria

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

Christopher J Danpure

series ordinal

1

0 references

language of work or name

English

0 references

publication date

2005

1 reference

American Journal of Nephrology

PubMed

published in

0 references

volume

25

0 references

issue

3

0 references

page(s)

303-10

0 references

cites work

Peroxisomal alanine:glyoxylate aminotransferase deficiency in primary hyperoxaluria type I

1 reference

Functional synergism between the most common polymorphism in human alanine:glyoxylate aminotransferase and four of the most common disease-causing mutations

21 January 2018

1 reference

An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria

21 January 2018

1 reference

Human peroxisomal L-alanine: glyoxylate aminotransferase. Evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon

21 January 2018

1 reference

Crystal structure of alanine:glyoxylate aminotransferase and the relationship between genotype and enzymatic phenotype in primary hyperoxaluria type 1

21 January 2018

1 reference

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

21 January 2018

1 reference

Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase

21 January 2018

1 reference

Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1

21 January 2018

1 reference

An intronic duplication in the alanine: glyoxylate aminotransferase gene facilitates identification of mutations in compound heterozygote patients with primary hyperoxaluria type 1.

21 January 2018

1 reference

Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis

21 January 2018

1 reference

Inhibition of alanine:glyoxylate aminotransferase 1 dimerization is a prerequisite for its peroxisome-to-mitochondrion mistargeting in primary hyperoxaluria type 1.

21 January 2018

1 reference

An oligomeric protein is imported into peroxisomes in vivo

21 January 2018

1 reference

Protein unfolding and the energetics of protein translocation across biological membranes

21 January 2018

1 reference

Structural basis of presequence recognition by the mitochondrial protein import receptor Tom20

21 January 2018

1 reference

Molecular basis of the variable mitochondrial and peroxisomal localisation of alanine-glyoxylate aminotransferase

21 January 2018

1 reference

Primary hyperoxaluria type 1 in the Canary Islands: a conformational disease due to I244T mutation in the P11L-containing alanine:glyoxylate aminotransferase

21 January 2018

1 reference

A glycine-to-glutamate substitution abolishes alanine:glyoxylate aminotransferase catalytic activity in a subset of patients with primary hyperoxaluria type 1

21 January 2018

1 reference

Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene

21 January 2018

1 reference

Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene

21 January 2018

1 reference

ATP-dependent degradation of a mutant serine: pyruvate/alanine:glyoxylate aminotransferase in a primary hyperoxaluria type 1 case

21 January 2018

1 reference

Pyridoxine effect in type I primary hyperoxaluria is associated with the most common mutant allele

21 January 2018

1 reference

Correction of an enzyme trafficking defect in hereditary kidney stone disease in vitro

21 January 2018

1 reference

Immunocytochemical localization of human hepatic alanine: glyoxylate aminotransferase in control subjects and patients with primary hyperoxaluria type 1

21 January 2018

1 reference

Advances in the enzymology and molecular genetics of primary hyperoxaluria type 1. Prospects for gene therapy

21 January 2018

1 reference

Pharmacological chaperones: a new twist on receptor folding.

21 January 2018

1 reference

Processing of mutant cystic fibrosis transmembrane conductance regulator is temperature-sensitive

21 January 2018

1 reference

Chemical chaperones correct the mutant phenotype of the delta F508 cystic fibrosis transmembrane conductance regulator protein

21 January 2018

1 reference

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

21 January 2018

1 reference

Diet and the frequency of the alanine:glyoxylate aminotransferase Pro11Leu polymorphism in different human populations

21 January 2018

1 reference

The effect of vitamin B6 deficiency on alanine:Glyoxylate aminotransferase isoenzymes in rat liver

21 January 2018

1 reference