Detalhe da pesquisa
1.
The functional impact of 1,570 individual amino acid substitutions in human OTC.
Am J Hum Genet
; 110(5): 863-879, 2023 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37146589
2.
Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells: A mechanistic connection between the kidney defects in cpk mice and human ARPKD.
FASEB J
; 37(7): e23008, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37318790
3.
Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
J Inherit Metab Dis
; 2023 Oct 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37847851
4.
NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Int J Mol Sci
; 24(7)2023 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047726
5.
Fifteen years of urea cycle disorders brain research: Looking back, looking forward.
Anal Biochem
; 636: 114343, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34637785
6.
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Hum Mutat
; 42(12): 1624-1636, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510628
7.
AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.
J Inherit Metab Dis
; 42(6): 1088-1096, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31177541
8.
Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.
Hum Mutat
; 39(4): 527-536, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282796
9.
Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.
Ann Neurol
; 79(3): 379-86, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26642834
10.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
11.
A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet
; 92(5): 767-73, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582646
12.
Redefining Healthy Urine: A Cross-Sectional Exploratory Metagenomic Study of People With and Without Bladder Dysfunction.
J Urol
; 196(2): 579-87, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26807926
13.
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
Mol Genet Metab
; 111(3): 393-398, 2014 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24374284
14.
Pkhd1cyli/cyli mice have altered renal Pkhd1 mRNA processing and hormonally sensitive liver disease.
J Mol Med (Berl)
; 101(9): 1141-1151, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37584738
15.
Differential regulation of MYC expression by PKHD1/Pkhd1 in human and mouse kidneys: phenotypic implications for recessive polycystic kidney disease.
Front Cell Dev Biol
; 11: 1270980, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38125876
16.
Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.
J Biol Chem
; 286(25): 22055-68, 2011 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-21540182
17.
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.
Mol Genet Metab
; 106(2): 160-8, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22503289
18.
Assessing Protein Interactions for Clustering of Mitochondrial Urea Cycle Enzymes.
Methods Mol Biol
; 2487: 73-92, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35687230
19.
Transcription factor Ap2b regulates the mouse autosomal recessive polycystic kidney disease genes, Pkhd1 and Cys1.
Front Mol Biosci
; 9: 946344, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36710876
20.
N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy.
Hum Mutat
; 32(10): 1153-60, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21681857