相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Molecular characterization of the AdeI mutant of Chinese hamster ovary cells: A cellular model of adenylosuccinate lyase deficiency
Lydia K. Vliet et al.
MOLECULAR GENETICS AND METABOLISM (2011)
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
Marie Zikanova et al.
HUMAN MUTATION (2010)
Dynamic Regulation of a Metabolic Multi-enzyme Complex by Protein Kinase CK2
Songon An et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2010)
Study of inborn errors of metabolism in urine from patients with unexplained mental retardation
Angela Sempere et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Adenylosuccinate Lyase Deficiency in the United Kingdom Pediatric Population: First Three Cases
Claire T. Lundy et al.
PEDIATRIC NEUROLOGY (2010)
Microtubule-assisted mechanism for functional metabolic macromolecular complex formation
Songon An et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Misleading behavioural phenotype with adenylosuccinate lyase deficiency
Cyril Gitiaux et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2009)
Widespread reorganization of metabolic enzymes into reversible assemblies upon nutrient starvation
Rammohan Narayanaswamy et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency
Agnieszka Jurecka et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Reversible compartmentalization of de novo purine biosynthetic complexes in living cells
Songon An et al.
SCIENCE (2008)
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: Observation of 6 patients in 4 families
Katharina Mouchegh et al.
JOURNAL OF PEDIATRICS (2007)
Adenylosuccinate lyase deficiency
Erin K. Spiegel et al.
MOLECULAR GENETICS AND METABOLISM (2006)
AICA-ribosiduria:: A novel, neurologically devastating inborn error of purine biosynthesis caused by mutation of ATIC
S Marie et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Deconvolution improves colocalization analysis of multiple fluorochromes in 3D confocal data sets more than filtering techniques
L Landmann
JOURNAL OF MICROSCOPY-OXFORD (2002)
Crystal structure of a bifunctional transformylase and cyclohydrolase enzyme in purine biosynthesis
SE Greasley et al.
NATURE STRUCTURAL BIOLOGY (2001)
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients
S Kmoch et al.
HUMAN MOLECULAR GENETICS (2000)
分享论文
