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Hemoglobin Jamaica plain-A sickling hemoglobin with reduced oxygen affinity

Article Abstract:

Mutation in the gene encoding the beta chain of hemoglobin results in the substitution of valine for glutamic acid at position 6 and such patients are symptomatic of sickle cell anemia and hypoxemia. Structural modeling reveals destabilization of the oxy conformation as a molecular mechanism for sickling in a heterozygote at an ambient partial pressure of oxygen.

England, Hemoglobin, Hemoglobins, Glutamate, Dosage and administration

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Congenital glutamine deficiency with glutamine synthetase mutations

Article Abstract:

A report is presented on two unrelated new-borns affected by congenital human glutamine synthetase deficiency with acute brain deformities, which cause multi-organ failure and neonatal mortality. Studies employing immortalized lymphocytes indicate that these mutations are related to minimized glutamine synthetase activity.

United Kingdom, Glutamine, Cognition in infants, Infant cognition

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Artificial sweeteners-enhancing glycosylation to treat muscular dystrophies

Article Abstract:

A large number of genetic mutations that cause muscular dystrophies are discussed. The study shows that overexpression of a glycosyltransferase, a type of enzyme that adds sugar residues to cellular proteins, resulted in the functional rescue of dystrophic muscle cells.

Methods, Proteins, Glycosylation, Chemical properties

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