Detalhe da pesquisa
1.
Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder.
Am J Hum Genet
; 109(2): 345-360, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045343
2.
Parkinson's disease protein PARK7 prevents metabolite and protein damage caused by a glycolytic metabolite.
Proc Natl Acad Sci U S A
; 119(4)2022 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35046029
3.
Metabolite Repair Enzymes Control Metabolic Damage in Glycolysis.
Trends Biochem Sci
; 45(3): 228-243, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31473074
4.
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
Am J Hum Genet
; 108(6): 1151-1160, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33979636
5.
SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.
Cell Mol Life Sci
; 80(9): 259, 2023 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37594549
6.
Human cytosolic transaminases: side activities and patterns of discrimination towards physiologically available alternative substrates.
Cell Mol Life Sci
; 79(8): 421, 2022 Jul 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35834009
7.
Convergent evolution of zoonotic Brucella species toward the selective use of the pentose phosphate pathway.
Proc Natl Acad Sci U S A
; 117(42): 26374-26381, 2020 10 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-33020286
8.
ECHDC1 knockout mice accumulate ethyl-branched lipids and excrete abnormal intermediates of branched-chain fatty acid metabolism.
J Biol Chem
; 297(4): 101083, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34419447
9.
The metalloprotein YhcH is an anomerase providing N-acetylneuraminate aldolase with the open form of its substrate.
J Biol Chem
; 296: 100699, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33895133
10.
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor.
Blood
; 136(9): 1033-1043, 2020 08 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32294159
11.
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
J Inherit Metab Dis
; 45(4): 759-768, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35506446
12.
Failure to eliminate a phosphorylated glucose analog leads to neutropenia in patients with G6PT and G6PC3 deficiency.
Proc Natl Acad Sci U S A
; 116(4): 1241-1250, 2019 01 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-30626647
13.
Variants in the ethylmalonyl-CoA decarboxylase (ECHDC1) gene: a novel player in ethylmalonic aciduria?
J Inherit Metab Dis
; 44(5): 1215-1225, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973257
14.
SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.
Ann Neurol
; 85(3): 385-395, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30635937
15.
Off to a slow start: Analyzing lag phases and accelerating rates in steady-state enzyme kinetics.
Anal Biochem
; 593: 113595, 2020 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31987861
16.
Inborn errors of metabolite repair.
J Inherit Metab Dis
; 43(1): 14-24, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31691304
17.
Phosphoglycolate has profound metabolic effects but most likely no role in a metabolic DNA response in cancer cell lines.
Biochem J
; 476(4): 629-643, 2019 02 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670572
18.
Pyridoxamine-phosphate oxidases and pyridoxamine-phosphate oxidase-related proteins catalyze the oxidation of 6-NAD(P)H to NAD(P).
Biochem J
; 476(20): 3033-3052, 2019 10 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31657440
19.
The synthesis of branched-chain fatty acids is limited by enzymatic decarboxylation of ethyl- and methylmalonyl-CoA.
Biochem J
; 476(16): 2427-2447, 2019 08 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-31416829
20.
Nit1 is a metabolite repair enzyme that hydrolyzes deaminated glutathione.
Proc Natl Acad Sci U S A
; 114(16): E3233-E3242, 2017 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28373563