Detalhe da pesquisa
1.
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome.
Hum Mol Genet
; 28(22): 3805-3814, 2019 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-31600779
2.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Rheumatology (Oxford)
; 57(7): 1180-1185, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30423175
3.
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation.
Mol Genet Metab
; 119(3): 270-277, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27590927
4.
Metabolites of De Novo Purine Synthesis: Metabolic Regulators and Cytotoxic Compounds.
Metabolites
; 12(12)2022 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36557247
5.
Pathway-specific effects of ADSL deficiency on neurodevelopment.
Elife
; 112022 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35133277
6.
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis.
Metabolites
; 12(3)2022 Mar 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323684
7.
Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies.
PLoS One
; 13(7): e0201432, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30059557
8.
Mass spectrometric analysis of purine de novo biosynthesis intermediates.
PLoS One
; 13(12): e0208947, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30532129