ADSL Gene Research List
2008 Research
→Clinical, Biochemical and Molecular Findings in Seven Polish Patients with Adenylosuccinate Lyase Deficiency
- Provides a background on the metabolic activity of adenylosuccinate lyase (encoded by ADSL gene)
- Describes signs and symptoms of 7 patients identified as having mutations in the ADSL gene
2005 Research
→Inhibition of Defective Adenylosuccinate Lyase by HNE: a Neurological Disease that May be Affected by Oxidative Stress
- Provides background on metabolic activity of adenylosuccinate lyase and known mutations in ADSL gene that encodes adenylosuccinate lyase
- Describes the effect of HNE on a specific defective adenylosuccinate lyase model
- Researchers hypothesize that the effects of oxidative stress may impact adenylosuccinate lyase (encoded by ADSL gene) activity resulting in worsening symptoms
2004 Research
→Two Novel Mutant Human Adenylosuccinate Lyases (ASLs) Associated with Autism and Characterization of the Equivalent Mutant Bacillus subtilis ASL
- Describes an individual with autism who was found to have a mutation in the ADSL gene
- Researchers created a model ADSL gene from the Bacillus subtilis bacteria
- Report findings of adenylosuccinate lyase (encoded by ADSL gene) activity from mutated ADSL gene model
2003 Research
→Intrafamilial Variability in the Phenotypic Expression of Adenylosuccinate Lyase Deficiency: a Report on Three Patients
- Included 3 individuals from the same family with mutations in the ADSL gene
- All 3 individuals displayed symptoms of autism
- Reported on the mutation present in the ADSL gene and its effect on expression of adenylosuccinate lyase
2002 Research
→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
- Provides background on the metabolic action of adenylosuccinate lyase (encoded by the ADSL gene)
- Describes a mutation in the ADSL gene that affects production of adenylosuccinate lyase
- Proposes a possible mechanism for decreased adenylosuccinate lyase production via nuclear respiratory factor 2
1999 Research
→Mutation Analysis in Adenylosuccinate Lyase Deficiency: Eight Novel Mutations in the Re-Evaluated Full ADSL Coding Sequence
- Deficiencies in adenylosuccinate lyase (encoded by ADSL gene) sometimes found in individuals that show symptoms of autism
- Study attempted to identify new types of mutations in ADSL gene resulting in adenylosuccinate lyase deficiencies
- Researchers discovered 8 previously unidentified types of mutations in the ADSL gene
1995 Research
→Adenylosuccinate Lyase (ADSL) and Infantile Autism: Absence of Previously Reported Point Mutation
- Study included 119 individuals with autism spectrum disorders
- Study based on the previous finding of a point mutation in the ADSL gene of 3 affected siblings with autism
- Searched for the same point mutation in the ADSL gene in the study participants
1992 Research
→A Mutation in Adenylosuccinate Lyase Associated with Mental Retardation and Autistic Features
- Included 3 individuals with autism symptoms from a single family
- Describes a point mutation in the ADSL gene found in all affected individuals but not found in unaffected family members
1984 Research
→An Infantile Autistic Syndrome Characterised by the Presence of Succinylpurines in Body Fluids
- Included 3 children with autism spectrum disorders
- Reported on findings of deficient adenylosuccinate lyase activity in these children (adenylosuccinate lyase is encoded by ADSL gene)
Additional Resources:
- More Info on Genes Associated with Autism
- More Information on the Genetics of Autism
- More Information About Autism
