Associated Papers
ADSL deficiency is a secondary mitochondrial disease affecting organelle homeostasis and ERK2/AKT signaling in a linear genotype-phenotype relation.
Bordi M et al.
Cell Reports, 2025
Child with adenylosuccinate lyase deficiency caused by a novel complex heterozygous mutation in the ADSL gene: A case report.
Wang XC et al.
World Journal of Clinical Cases, 2022
Reduced purine biosynthesis in humans after their divergence from Neandertals.
Stepanova V et al.
Elife, 2021
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase.
Van Laer B et al.
Scientific Reports, 2018
Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.
Mao X et al.
Scientific Reports, 2017
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
Donti TR et al.
Molecular Genetics and Metabolism Reports, 2016
Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
Ray SP et al.
Biochimica Et Biophysica Acta, 2013
Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
Ray SP et al.
Biochemistry, 2012
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
Baresova V et al.
Human Molecular Genetics, 2012
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
Henneke M et al.
Nmr in Biomedicine, 2010
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
Zikanova M et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Inhibition of defective adenylosuccinate lyase by HNE: a neurological disease that may be affected by oxidative stress.
Crifò C et al.
Biofactors (oxford, England), 2005
Characterization of a mutant Bacillus subtilis adenylosuccinate lyase equivalent to a mutant enzyme found in human adenylosuccinate lyase deficiency: asparagine 276 plays an important structural role.
Palenchar JB et al.
Biochemistry, 2003
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V et al.
Human Molecular Genetics, 2000
Adenylosuccinate lyase deficiency: from the clinics to molecular biology.
Marie S et al.
Advances in Experimental Medicine and Biology, 2000
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
Marie S et al.
Human Mutation, 1999
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0