Associated Papers
Severe Prenatal Presentation of Adenylosuccinate Lyase Deficiency Caused by a Synonymous ADSL Variant Inducing Aberrant Splicing.
Klapperich A et al.
Prenatal Diagnosis, 2026
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
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.
Dahlin M et al.
Brain Communications, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Electroclinical features and phenotypic differences in adenylosuccinate lyase deficiency: Long-term follow-up of seven patients from four families and appraisal of the literature.
Cutillo G et al.
Epilepsia Open, 2024
Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study.
Cavirani B et al.
International Journal of Molecular Sciences, 2024
Chromosomal microarray and exome sequencing in unexplained early infantile epileptic encephalopathies in a highly consanguineous population.
Turkdogan D et al.
The International Journal of Neuroscience, 2023
Anticipatory banking of samples enables diagnosis of adenylosuccinase deficiency following molecular autopsy in an infant with vacuolating leukoencephalopathy.
Sitaram S et al.
American Journal of Medical Genetics. Part A, 2023
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
Pathway-specific effects of ADSL deficiency on neurodevelopment.
Dutto I et al.
Elife, 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
Frequency of Specific Genes in Different Types of Epilepsy.
Duzkale N et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Mitani T et al.
American Journal of Human Genetics, 2021
Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.
Liu N et al.
Jama Network Open, 2021
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C et al.
Diagnostics (basel, Switzerland), 2021
Reduced purine biosynthesis in humans after their divergence from Neandertals.
Stepanova V et al.
Elife, 2021
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression.
Yin J et al.
Genes, 2020
Adenylosuccinate lyase hydroxylation contributes to triple negative breast cancer via the activation of cMYC.
Zurlo G et al.
Molecular & Cellular Oncology, 2020
Prolyl hydroxylase substrate adenylosuccinate lyase is an oncogenic driver in triple negative breast cancer.
Zurlo G et al.
Nature Communications, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
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
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Molecular comparison of Neanderthal and Modern Human adenylosuccinate lyase.
Van Laer B et al.
Scientific Reports, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Cryptococcus neoformans ADS lyase is an enzyme essential for virulence whose crystal structure reveals features exploitable in antifungal drug design.
Chitty JL et al.
The Journal of Biological Chemistry, 2017
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
Adenylosuccinate lyase deficiency.
Jurecka A et al.
Journal of Inherited Metabolic Disease, 2015
Clinical whole exome sequencing in child neurology practice.
Srivastava S et al.
Annals of Neurology, 2014
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
Jurecka A et al.
Neuropediatrics, 2014
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
Novel features in the evolution of adenylosuccinate lyase deficiency.
Pérez-Dueñas B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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
Magnetic resonance imaging of the brain in adenylosuccinate lyase deficiency: a report of seven cases and a review of the literature.
Jurecka A et al.
European Journal of Pediatrics, 2012
Adenylosuccinate lyase deficiency in a Malaysian patient, with novel adenylosuccinate lyase gene mutations.
Chen BC et al.
Journal of Inherited Metabolic Disease, 2010
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
Lundy CT et al.
Pediatric Neurology, 2010
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
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
Jurecka A et al.
Molecular Genetics and Metabolism, 2008
[Adenylosuccinate lyase deficiency: an unusual cause of neonatal seizure].
Clamadieu C et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2008
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
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
Edery P et al.
American Journal of Medical Genetics. Part A, 2003
Mutation of a nuclear respiratory factor 2 binding site in the 5' untranslated region of the ADSL gene in three patients with adenylosuccinate lyase deficiency.
Marie S et al.
American Journal of Human Genetics, 2002
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
Race V et al.
Human Molecular Genetics, 2000