A carbamylphosphate synthetase deficiency with no detectable immunoreactive enzyme and no translatablemRNA

1984 ◽  
Vol 7 (3) ◽  
pp. 104-106 ◽  
Author(s):  
L. Graf ◽  
P. McIntyre ◽  
N. Hoogenraad ◽  
G. Brown ◽  
E. A. Haan
Keyword(s):  
Synthetase Deficiency ◽  
Carbamylphosphate Synthetase

Carbamylphosphate synthetase deficiency

2020 ◽  
pp. 223-227
Author(s):  
William L. Nyhan ◽  
Georg F. Hoffmann ◽  
Aida I. Al-Aqeel ◽  
Bruce A. Barshop
Keyword(s):  
Synthetase Deficiency ◽  
Carbamylphosphate Synthetase

scholarly journals Carbamylphosphate synthetase deficiency in an infant with severe cerebral damage.

1969 ◽  
Vol 44 (238) ◽  
pp. 688-693 ◽  
Author(s):  
F. A. Hommes ◽  
C. J. De Groot ◽  
C. W. Wilmink ◽  
J. H. Jonxis
Keyword(s):  
Cerebral Damage ◽  
Synthetase Deficiency ◽  
Carbamylphosphate Synthetase

Familial And Constitutional Moderate Bleeding Disorder Associated With Defective Platelet Cyclo-Oxygenase

1981 ◽  
Author(s):  
C Lecrubier ◽  
F Fouque ◽  
M Chignard ◽  
M H Horellou ◽  
J Conard ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Atp Release ◽  
Rabbit Aorta ◽  
Total Radioactivity ◽  
Bleeding Disorder ◽  
Similar Extent ◽  
Synthetase Deficiency ◽  
Successive Generations ◽  
Second Wave ◽  
Rule Out

Three family members from two successive generations showed a moderate bleeding disorder. The bleeding times (Duke and Ivy-Borchgrevink) were both constantly prolonged. Platelet aggregation induced by ADP and adrenaline showed no second wave; collagen at low to moderate concentrations failed to aggregate and release ATP whereas higher amounts aggregated and released. Aggregation and release due to thrombin, ristocetin and synthetic epoxy derivatives (U 44069 and U 46619) were normal. Arachidonate (A.A.) was inactive and was not converted into thromboxane (TX) A2 activity evaluated on the rabbit aorta strip. The patient’s platelets did not respond to A.A. when PRP from an aspirin treated control was added. Platelet phospholipids (PL) were labelled by 14C - A.A. before stimulation by thrombin (T). Radioactivity of the PL of the propositus' platelets was affected with T to a similar extent as 5 laboratory controls, indicating that the phospholipase activity was not impaired. In contrast, no TXB2 was found: 0.9 p. cent as compared to 6 p. cent of total radioactivity in controls.Our data suggest a deficit in cyclo-oxygenase particularly since the levels of PGE2, PGF2a and PGD2 were within the limits of detection. These results seem to rule out the possibility of a TX-synthetase deficiency with excessive production of anti-aggregating PGs. This study suggests that transmission is autosomal dominant and confirms that cyclo-oxygenase is not needed for aggregation and ATP-release by high amounts of collagen.

scholarly journals Effects of A6E Mutation on Protein Expression and Supramolecular Assembly of Yeast Asparagine Synthetase

Biology ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 294
Author(s):  
Thunyarat Surasiang ◽  
Chalongrat Noree
Keyword(s):  
Protein Expression ◽  
Stationary Phase ◽  
Lymphoblastic Leukemia ◽  
Energy Levels ◽  
Supramolecular Assembly ◽  
Asparagine Synthetase ◽  
Gene Encoding ◽  
Synthetase Deficiency ◽  
Asparagine Synthetase Deficiency ◽  
Intracellular Energy

Asparagine synthetase deficiency (ASD) has been found to be caused by certain mutations in the gene encoding human asparagine synthetase (ASNS). Among reported mutations, A6E mutation showed the greatest reduction in ASNS abundance. However, the effect of A6E mutation has not yet been tested with yeast asparagine synthetase (Asn1/2p). Here, we constructed a yeast strain by deleting ASN2 from its genome, introducing the A6E mutation codon to ASN1, along with GFP downstream of ASN1. Our mutant yeast construct showed a noticeable decrease of Asn1p(A6E)-GFP levels as compared to the control yeast expressing Asn1p(WT)-GFP. At the stationary phase, the A6E mutation also markedly lowered the assembly frequency of the enzyme. In contrast to Asn1p(WT)-GFP, Asn1p(A6E)-GFP was insensitive to changes in the intracellular energy levels upon treatment with sodium azide during the log phase or fresh glucose at the stationary phase. Our study has confirmed that the effect of A6E mutation on protein expression levels of asparagine synthetase is common in both unicellular and multicellular eukaryotes, suggesting that yeast could be a model of ASD. Furthermore, A6E mutation could be introduced to the ASNS gene of acute lymphoblastic leukemia patients to inhibit the upregulation of ASNS by cancer cells, reducing the risk of developing resistance to the asparaginase treatment.

scholarly journals Role of calcium as an inhibitor of rat liver carbamylphosphate synthetase I.

1984 ◽  
Vol 259 (1) ◽  
pp. 323-331 ◽  
Author(s):  
S Cerdan ◽  
C J Lusty ◽  
K N Davis ◽  
J A Jacobsohn ◽  
J R Williamson
Keyword(s):  
Rat Liver ◽  
Carbamylphosphate Synthetase

scholarly journals Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency

Blood ◽  
1983 ◽  
Vol 62 (4) ◽  
pp. 754-757 ◽  
Author(s):  
JT Prchal ◽  
WM Crist ◽  
M Roper ◽  
VP Wellner
Keyword(s):  
Metabolic Acidosis ◽  
Hemolytic Anemia ◽  
Male Infant ◽  
Glutathione Synthetase ◽  
Synthetase Deficiency ◽  
Glutathione Synthetase Deficiency ◽  
Febrile Episodes ◽  
Relationship Of ◽  
The Relationship ◽  
Generalized Type

Abstract The clinical and laboratory features of a 3-mo-old black male infant with glutathione (GSH) synthetase deficiency of the generalized type was evaluated. Partial albinism, brisk hemolytic anemia, recurrent febrile episodes, and mental retardation were noted. Also, severe recurrent metabolic acidosis and marked oxoprolinemia and oxoprolinuria were found in the proband but not in his first-degree relatives. The relationship of these disease manifestations to the underlying metabolic defect is discussed.

Sign in / Sign up

Export Citation Format

Share Document