Systemic Alanine Glyoxylate Aminotransferase mRNA Improves Glyoxylate Metabolism in a Mouse Model of Primary Hyperoxaluria Type 1

2019 ◽  
Vol 29 (2) ◽  
pp. 104-113 ◽  
Author(s):  
Anjli Kukreja ◽  
Melissa Lasaro ◽  
Christian Cobaugh ◽  
Chris Forbes ◽  
Jian-Ping Tang ◽  
...  
Keyword(s):  
Mouse Model ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Glyoxylate Metabolism ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

2019 ◽  
pp. 28-39
Author(s):  
Kimberly Coughlan ◽  
Rajanikanth Maganti ◽  
Andrea Frassetto ◽  
Christine DeAntonis ◽  
Meredith Wolfrom ◽  
...  
Keyword(s):  
Mouse Model ◽  
Gene Editing ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type

Fetal liver alanine: Glyoxylate aminotransferase and the prenatal diagnosis of primary hyperoxaluria type 1

1989 ◽  
Vol 9 (4) ◽  
pp. 271-281 ◽  
Author(s):  
Christopher J. Danpure ◽  
Patricia R. Jennings ◽  
Richard J. Penketh ◽  
Pauline J. Wise ◽  
Penelope J. Cooper ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Liver ◽  
Primary Hyperoxaluria ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

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

1990 ◽  
Vol 111 (6) ◽  
pp. 2341-2351 ◽  
Author(s):  
P E Purdue ◽  
Y Takada ◽  
C J Danpure
Keyword(s):  
Normal Population ◽  
Primary Hyperoxaluria ◽  
Alpha Helix ◽  
Primary Hyperoxaluria Type 1 ◽  
Peroxisomal Enzyme ◽  
Primary Hyperoxaluria Type ◽  
Oligonucleotide Hybridization ◽  
Glyoxylate Aminotransferase ◽  
Hyperoxaluria Type

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 (Danpure, C.J., P.J. Cooper, P.J. Wise, and P.R. Jennings. J. Cell Biol. 108:1345-1352). We have synthesized, amplified, cloned, and sequenced AGT cDNA from a PH1 patient with mitochondrial AGT (mAGT). This identified three point mutations that cause amino acid substitutions in the predicted AGT protein sequence. Using PCR and allele-specific oligonucleotide hybridization, a range of PH1 patients and controls were screened for these mutations. This revealed that all eight PH1 patients with mAGT carried at least one allele with the same three mutations. Two were homozygous for this allele and six were heterozygous. In at least three of the heterozygotes, it appeared that only the mutant allele was expressed. All three mutations were absent from PH1 patients lacking mAGT. One mutation encoding a Gly----Arg substitution at residue 170 was not found in any of the control individuals. However, the other two mutations, encoding Pro----Leu and Ile----Met substitutions at residues 11 and 340, respectively, cosegregated in the normal population at an allelic frequency of 5-10%. In an individual homozygous for this allele (substitutions at residues 11 and 340) only a small proportion of AGT appeared to be rerouted to mitochondria. It is suggested that the substitution at residue 11 generates an amphiphilic alpha-helix with characteristics similar to recognized mitochondrial targeting sequences, the full functional expression of which is dependent upon coexpression of the substitution at residue 170, which may induce defective peroxisomal import.

scholarly journals Inhibition of Glycolate Oxidase With Dicer-substrate siRNA Reduces Calcium Oxalate Deposition in a Mouse Model of Primary Hyperoxaluria Type 1

2016 ◽  
Vol 24 (4) ◽  
pp. 770-778 ◽  
Author(s):  
Chaitali Dutta ◽  
Nicole Avitahl-Curtis ◽  
Natalie Pursell ◽  
Marita Larsson Cohen ◽  
Benjamin Holmes ◽  
...  
Keyword(s):  
Mouse Model ◽  
Calcium Oxalate ◽  
Primary Hyperoxaluria ◽  
Glycolate Oxidase ◽  
Primary Hyperoxaluria Type 1 ◽  
Primary Hyperoxaluria Type ◽  
Hyperoxaluria Type
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