ℹ️
🇬🇧
Search
Search for publications relevant for "aica-ribosiduria"
aica-ribosiduria
Publication
Class
Person
Publication
Programmes
publication
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency
2012 |
First Faculty of Medicine
publication
PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome
2019 |
First Faculty of Medicine
publication
The CRISPR-Cas9 crATIC HeLa transcriptome: Characterization of a novel cellular model of ATIC deficiency and ZMP accumulation
2020 |
First Faculty of Medicine
publication
Mass spectrometric analysis of purine de novo biosynthesis intermediates
2018 |
First Faculty of Medicine
publication
CRISPR-Cas9 induced mutations along de novo purine synthesis in HeLa cells result in accumulation of individual enzyme substrates and affect purinosome formation
2016 |
First Faculty of Medicine
publication
Combined Targeted and Untargeted Profiling of HeLa Cells Deficient in Purine De Novo Synthesis
2022 |
First Faculty of Medicine