Autism Genetics: Research List for ADSL Gene Associated with Autism

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:

ADSL Gene and Autism

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