No association of red cell adenylate kinase phenotypes with affective disorders

1978 ◽  
Vol 41 (3) ◽  
pp. 355-357 ◽  
Author(s):  
G. Beckman ◽  
L. Beckman ◽  
C. Perris ◽  
E. Strandman
Keyword(s):  
Adenylate Kinase ◽  
Affective Disorders ◽  
Red Cell

Red cell adenylate kinase phenotypes in the affective disorders

1977 ◽  
Vol 36 (2) ◽  
pp. 161-166 ◽  
Author(s):  
Alan Rundle ◽  
Barbara Sudell ◽  
Keith Wood ◽  
Alec Coppen
Keyword(s):  
Adenylate Kinase ◽  
Affective Disorders ◽  
Red Cell

Red cell adenylate kinase deficiency in India: identification of two novel missense mutations (c.71A>G and c.413G>A)

2019 ◽  
Vol 72 (6) ◽  
pp. 393-398 ◽  
Author(s):  
Rashmi Dongerdiye ◽  
Pranoti Kamat ◽  
Punit Jain ◽  
Prashant Warang ◽  
Rati Devendra ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Adenylate Kinase ◽  
Structural Changes ◽  
Psychomotor Retardation ◽  
Red Cell ◽  
Missense Mutations ◽  
Rare Disorders ◽  
Pathogenic Variants ◽  
Cell Enzyme ◽  
Next Generation Sequencing Ngs

Adenylate kinase (AK) deficiency is a rare erythroenzymopathy associated with hereditary nonspherocytic haemolytic anaemia along with mental/psychomotor retardation in few cases. Diagnosis of AK deficiency depends on the decreased level of enzyme activity in red cell and identification of a mutation in the AK1 gene. Until, only eight mutations causing AK deficiency have been reported in the literature. We are reporting two novel missense mutation (c.71A > G and c.413G > A) detected in the AK1 gene by next-generation sequencing (NGS) in a 6-year-old male child from India. Red cell AK enzyme activity was found to be 30% normal. We have screened a total of 32 family members of the patient and showed reduced red cell enzyme activity and confirm mutations by Sanger’s sequencing. On the basis of Sanger sequencing, we suggest that the proband has inherited a mutation in AK1 gene exon 4 c.71A > G (p.Gln24Arg) from paternal family and exon 6 c.413G > A (p.Arg138His) from maternal family. Bioinformatics tools, such as SIFT, Polymorphism Phenotyping v.2, Mutation Taster, MutPred, also confirmed the deleterious effect of both the mutations. Molecular modelling suggests that the structural changes induced by p.Gln24Arg and p.Arg138His are pathogenic variants having a direct impact on the structural arrangement of the region close to the active site of the enzyme. In conclusion, NGS will be the best solution for diagnosis of very rare disorders leading to better management of the disease. This is the first report of the red cell AK deficiency from the Indian population.

Plasma and Red Cell Lithium in Affective Disorders

1983 ◽  
Vol 143 (3) ◽  
pp. 311-312 ◽  
Author(s):  
Enrique Alvarez Martinez ◽  
Claudio Udina Ubello ◽  
José Ma Queralto Compano ◽  
Miguel Casas Brugue
Keyword(s):  
Affective Disorders ◽  
Red Cell

scholarly journals [3H]Ouabain binding and Na+, K+-ATPase in resealed human red cell ghosts.

1983 ◽  
Vol 81 (3) ◽  
pp. 401-420 ◽  
Author(s):  
D G Shoemaker ◽  
P K Lauf
Keyword(s):  
Adenylate Kinase ◽  
Kinase Activity ◽  
Kinase Inhibitor ◽  
Adenosine Diphosphate ◽  
Red Cell ◽  
Ouabain Binding ◽  
Intracellular Magnesium ◽  
High Affinity ◽  
Binding Rate ◽  
High Affinity Binding Site

The interaction of the cardiac glycoside [3H]ouabain with the Na+, K+ pump of resealed human erythrocyte ghosts was investigated. Binding of [3H]ouabain to high intracellular Na+ ghosts was studied in high extracellular Na+ media, a condition determined to produce maximal ouabain binding rates. Simultaneous examination of both the number of ouabain molecules bound per ghost and the corresponding inhibition of the Na+, K+-ATPase revealed that one molecule of [3H]ouabain inhibited one Na+, K+-ATPase complex. Intracellular magnesium or magnesium plus inorganic phosphate produced the lowest ouabain binding rate. Support of ouabain binding by adenosine diphosphate (ADP) was negligible, provided synthesis of adenosine triphosphate (ATP) through the residual adenylate kinase activity was prevented by the adenylate kinase inhibitor Ap5A. Uridine 5'-triphosphate (UTP) alone did not support ouabain binding after inhibition of the endogenous nucleoside diphosphokinase by trypan blue and depletion of residual ATP by the incorporation of hexokinase and glucose. ATP acting solely at the high-affinity binding site of the Na+, K+ pump (Km approximately 1 microM) promoted maximal [3H]ouabain binding rates. Failure of 5'-adenylyl-beta-gamma-imidophosphate (AMP-PNP) to stimulate significantly the rate of ouabain binding suggests that phosphorylation of the pump was required to expose the ouabain receptor.

Erythrocyte adenylate kinase activity in affective disorders

1978 ◽  
Vol 31 (1) ◽  
pp. 385-386 ◽  
Author(s):  
K. Wood ◽  
A. Coppen ◽  
Barbara Sudell ◽  
A. Rundle
Keyword(s):  
Adenylate Kinase ◽  
Affective Disorders ◽  
Kinase Activity

Red cell adenylate kinase activity in AK1 and AK 2-1 phenotypes

1970 ◽  
Vol 33 (4) ◽  
pp. 361-364 ◽  
Author(s):  
SANDRA RAPLEY ◽  
HARRY HARRIS
Keyword(s):  
Adenylate Kinase ◽  
Kinase Activity ◽  
Red Cell

Chromosomal assignment of the gene for human red cell adenylate kinase (AK1) in man-Chinese hamster somatic cell hybrids

1976 ◽  
Vol 16 (1-5) ◽  
pp. 247-251 ◽  
Author(s):  
A. Westerveld ◽  
A.P.M. Jongsma ◽  
Meera Khan ◽  
H. Van Someren ◽  
D. Bootsma
Keyword(s):  
Somatic Cell ◽  
Adenylate Kinase ◽  
Chinese Hamster ◽  
Chromosomal Assignment ◽  
Red Cell ◽  
Somatic Cell Hybrids ◽  
Cell Hybrids

Red Cell Adenylate Kinase and Phosphoglucomutase Polymorphisms in Several Population Groups in Israel

1971 ◽  
Vol 21 (3) ◽  
pp. 289-296 ◽  
Author(s):  
A. Szeinberg ◽  
Shulamith Tomashevsky-Tamir
Keyword(s):  
Adenylate Kinase ◽  
Red Cell ◽  
Population Groups
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