|1.||Colman, Roberta F: 2 articles (03/2011 - 12/2004)|
|2.||Mita, Toshihiro: 1 article (06/2015)|
|3.||Khuntirat, Benjawan: 1 article (06/2015)|
|4.||Vaughan, Jefferson A: 1 article (06/2015)|
|5.||Tanabe, Kazuyuki: 1 article (06/2015)|
|6.||Zollner, Gabriela: 1 article (06/2015)|
|7.||Tsuboi, Takafumi: 1 article (06/2015)|
|8.||Coleman, Russell: 1 article (06/2015)|
|9.||Sattabongkot, Jetsumon: 1 article (06/2015)|
|10.||Honma, Hajime: 1 article (06/2015)|
|1.||Autistic Disorder (Autism)
12/17/2004 - "An Australian patient with autism was found to be heterozygous for two mutations in the gene encoding adenylosuccinate lyase (ASL), resulting in the protein mutations E80D and D87E. "
04/01/1996 - "Crystallization and preliminary structural analysis of Bacillus subtilis adenylosuccinate lyase, an enzyme implicated in infantile autism."
12/18/1995 - "Adenylosuccinate lyase (ADSL) and infantile autism: absence of previously reported point mutation."
11/09/1989 - "Residual adenylosuccinase activity was studied in cultured lymphoblasts from a pair of siblings with infantile autism who have been previously shown to have a deficiency of the enzyme. "
01/01/1989 - "We have studied the residual adenylosuccinate lyase activity in cultured lymphoblasts from a pair of siblings with infantile autism who have been previously shown to have a deficiency of the enzyme. "
01/01/1995 - "A convenient and simple method of diagnosing adenylosuccinate lyase (ASL) deficiency is described. "
03/01/2011 - "Human adenylosuccinate lyase (ASL) deficiency is an inherited metabolic disease in which the majority of the patients are compound heterozygotes for the mutations that occur in the ASL gene. "
04/01/1997 - "Adenylosuccinate lyase (ASL) deficiency is a defect in purine de novo synthesis pathway. "
|3.||Mental Retardation (Idiocy)
02/15/2000 - "Because adenylosuccinate lyase plays an integral part in maintaining proper cellular metabolism, mutations in the human enzyme can have severe clinical consequences, including mental retardation with autistic features. "
04/01/1992 - "A mutation in adenylosuccinate lyase associated with mental retardation and autistic features."
11/01/2008 - "ZMP is an inhibitor of the bifunctional enzyme adenylosuccinate lyase, and a deficiency of this enzyme causes psychomotor and mental retardation in humans. "
|4.||Inborn Urea Cycle Disorders
10/10/2006 - "Some inborn errors of metabolism, such as urea cycle disorders, creatine transport deficiency, 4-hydroxybutyric aciduria, adenylosuccinate lyase deficit, Sanfilippo disease or certain congenital errors in the glycosylation of proteins may course with unspecified MR and must be taken into account in some situations. "
10/10/2006 - "Urea cycle disorders, different forms of homocystinuria, creatine transport deficiency, 4-hydroxybutyric aciduria, Sanfilippo disease, adenylosuccinate lyase deficit and certain extraordinarily rare congenital disorders of the glycosylation of proteins are some examples of them. "
10/10/1978 - "Adenylosuccinase activity of rat liver is depressed by prolonged starvation, cortisol administration, high protein diets, and alloxan diabetes. "
12/01/2010 - "According to the putative functions, the identified proteins were classified into four groups, i.e., signal transduction (glycine-rich RNA-binding protein, phosphate starvation response regulator-like), gene expression (putative pre-mRNA splicing factor, putative AAA-metalloprotease), metabolism (adenylosuccinate lyase, serpin, S-adenosylmethionine synthetase, MYB transcription factor-like protein), and ion transport (cation-transporting ATPase, sarcoplasmic reticulum protein). "
|2.||Proteins (Proteins, Gene)
|5.||Adenylosuccinate Synthase (Synthase, Adenylosuccinate)
|6.||succinic semialdehyde dehydrogenase deficiency
|9.||Merozoite Surface Protein 1 (MSA1)
|10.||RNA-Binding Proteins (RNA-Binding Protein)