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1.
A molecular journey on the pathogenesis of primary hyperoxaluria.
Curr Opin Nephrol Hypertens
; 33(4): 398-404, 2024 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-38602143
2.
Biochemical and cellular effects of a novel missense mutation of the AGXT gene associated with Primary Hyperoxaluria Type 1.
Biochem Biophys Res Commun
; 645: 118-123, 2023 02 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-36682331
3.
Amniotic fluid stem cell-derived extracellular vesicles are independent metabolic units capable of modulating inflammasome activation in THP-1 cells.
FASEB J
; 36(4): e22218, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35218567
4.
Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer-Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.
Int J Mol Sci
; 24(4)2023 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-36834788
5.
Crystal structure of Aspergillus fumigatus AroH, an aromatic amino acid aminotransferase.
Proteins
; 90(2): 435-442, 2022 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-34495558
6.
Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.
Hum Mol Genet
; 28(1): 1-15, 2019 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30215702
7.
The ILE56 mutation on different genetic backgrounds of alanine:glyoxylate aminotransferase: Clinical features and biochemical characterization.
Mol Genet Metab
; 131(1-2): 171-180, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32792227
8.
Cycloserine enantiomers are reversible inhibitors of human alanine:glyoxylate aminotransferase: implications for Primary Hyperoxaluria type 1.
Biochem J
; 476(24): 3751-3768, 2019 12 23.
Artículo
en Inglés
| MEDLINE | ID: mdl-31794008
9.
Cyclo(His-Pro) inhibits NLRP3 inflammasome cascade in ALS microglial cells.
Mol Cell Neurosci
; 94: 23-31, 2019 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30439413
10.
Pyridoxal 5'-Phosphate-Dependent Enzymes at the Crossroads of Host-Microbe Tryptophan Metabolism.
Int J Mol Sci
; 21(16)2020 Aug 13.
Artículo
en Inglés
| MEDLINE | ID: mdl-32823705
11.
Biochemical properties and oxalate-degrading activity of oxalate decarboxylase from bacillus subtilis at neutral pH.
IUBMB Life
; 71(7): 917-927, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30806021
12.
Correlation between the molecular effects of mutations at the dimer interface of alanine-glyoxylate aminotransferase leading to primary hyperoxaluria type I and the cellular response to vitamin B6.
J Inherit Metab Dis
; 41(2): 263-275, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29110180
13.
Folding Defects Leading to Primary Hyperoxaluria.
Handb Exp Pharmacol
; 245: 313-343, 2018.
Artículo
en Inglés
| MEDLINE | ID: mdl-29071511
14.
Caenorhabditis elegans AGXT-1 is a mitochondrial and temperature-adapted ortholog of peroxisomal human AGT1: New insights into between-species divergence in glyoxylate metabolism.
Biochim Biophys Acta
; 1864(9): 1195-1205, 2016 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-27179589
15.
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Hum Mol Genet
; 24(19): 5500-11, 2015 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26199318
16.
Use of polymer conjugates for the intraperoxisomal delivery of engineered human alanine:glyoxylate aminotransferase as a protein therapy for primary hyperoxaluria type I.
Nanomedicine
; 13(3): 897-907, 2017 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-27993722
17.
Liver peroxisomal alanine:glyoxylate aminotransferase and the effects of mutations associated with Primary Hyperoxaluria Type I: An overview.
Biochim Biophys Acta
; 1854(9): 1212-9, 2015 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-25620715
18.
Misfolding caused by the pathogenic mutation G47R on the minor allele of alanine:glyoxylate aminotransferase and chaperoning activity of pyridoxine.
Biochim Biophys Acta
; 1854(10 Pt A): 1280-9, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-26149463
19.
A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.
Hum Mol Genet
; 23(20): 5429-40, 2014 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24865461
20.
S81L and G170R mutations causing Primary Hyperoxaluria type I in homozygosis and heterozygosis: an example of positive interallelic complementation.
Hum Mol Genet
; 23(22): 5998-6007, 2014 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24990153