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anti-Human Adenylosuccinate Lyase Antibodies:
anti-Mouse (Murine) Adenylosuccinate Lyase Antibodies:
anti-Rat (Rattus) Adenylosuccinate Lyase Antibodies:
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Human Polyclonal Adenylosuccinate Lyase Primary Antibody for ICC, IF - ABIN4278427
Baresova, Skopova, Sikora, Patterson, Sovova, Zikanova, Kmoch: Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency. in Human molecular genetics 2012
Show all 2 Pubmed References
Dog (Canine) Polyclonal Adenylosuccinate Lyase Primary Antibody for IHC, IHC (p) - ABIN4278428
van Straten, van Steenbeek, Grinwis, Favier, Kummeling, van Gils, Fieten, Groot Koerkamp, Holstege, Rothuizen, Spee: Aberrant expression and distribution of enzymes of the urea cycle and other ammonia metabolizing pathways in dogs with congenital portosystemic shunts. in PLoS ONE 2014
involved in endometrial cancer aggressiveness by regulating expression of killer cell lectin-like receptor C3
Case Report: Malaysian patient compound heterozygous for two novel ADSL mutations giving rise to adenylosuccinate lyase deficiency.
Missense mutations in the adenylosuccinate lyase is associated with Adenylosuccinate lyase deficiency, an inborn error of purine metabolism characterized by neurological and physiological symptoms.
structural and biochemical characterization data of WT and mutant R303C ADSL by enzyme kinetics, product binding by isothermal titration calorimetry and X-ray crystallography to reveal the effects of the R303C mutation that results in a nonparallel reduction in enzyme activity
Results proved in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency that various mutations of ADSL destabilize to various degrees purinosome assembly and found that the ability to form purinosomes correlates with clinical phenotypes of individual ADSL patients.
D-ribose administration in Polish patients with adenylosuccinate lyase deficiency was accompanied by neither reduction in seizure frequency nor growth enhancement.
the cases of the only three children diagnosed to date in the United Kingdom with adenylosuccinate lyase deficiency
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.
Mutations at position 276 result in structurally impaired adenylosuccinate lyases which are assembled into the defective tetramers associated with the mild variant of ADSL deficiency in humans.
Variable expression of ADSL deficiency is reported in three patients belonging to a family which originates from Portugal.
a mutation in adenylosuccinate lyase may be associated with autism
case report of adenylosuccinate lyase deficiency shows a mutation in ASDL
cloning, expression and purification of catalytically active human adenylosuccinate lyase
ADSL deficiency may present with prenatal growth restriction, fetal and neonatal hypokinesia, and rapidly fatal neonatal encephalopathy.
Analysis of the ADSL gene showed a R426H mutation in four unrelated patients with metabolic diseases.
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
Expression levels of ADSL, GARS-AIRS-GART, and DGAT1 were higher in longissimus lumborum muscle than in heart or liver tissues
Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene.
, Adenylosuccinate lyase
, adenylosuccinate lyase-like
, adenylosuccinate lyase 1
, adenysuccinate lyase