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
Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Tran Mau-Them F et al.
Molecular Genetics & Genomic Medicine, 2021
34716697 (PubMed )
Supplement: MGG3-9-e1836-s002.xlsx › Feuil1
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.
Macchiaiolo M et al.
Molecular Genetics and Metabolism Reports, 2020
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
27504266 (PubMed )
Supplement: mmc1.pdf
In vitro hybridization and separation of hybrids of human adenylosuccinate lyase from wild-type and disease-associated mutant enzymes.
De Zoysa Ariyananda L et al.
Biochemistry, 2011
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
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Ariyananda Lde Z et al.
Biochemistry, 2009
Adenylosuccinate lyase deficiency.
Spiegel EK et al.
Molecular Genetics and Metabolism, 0
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