Cargando…
Structural analysis of clinically relevant pathogenic G6PD variants reveals the importance of tetramerization for G6PD activity
Over 220 different amino acid variants have been identified in human glucose-6-phosphate dehydrogenase (G6PD), covering over 30% of the protein sequence. Many of these variants are pathogenic, causing varying degrees of G6PD deficiency with symptoms ranging from severe chronic anemia (class I) to mi...
Autores principales: | Cunningham, Anna D, Mochly-Rosen, Daria |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2017
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105287/ https://www.ncbi.nlm.nih.gov/pubmed/30148135 |
Ejemplares similares
-
Prevalence of G6PD deficiency and G6PD variants amongst the southern Thai population
por: Nuinoon, Manit, et al.
Publicado: (2022) -
Hemolytic Potential of Tafenoquine in Female Volunteers Heterozygous for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency (G6PD Mahidol Variant) versus G6PD-Normal Volunteers
por: Rueangweerayut, Ronnatrai, et al.
Publicado: (2017) -
Molecular characterization of G6PD mutations reveals the high frequency of G6PD Aures in the Lao Theung population
por: Sanephonasa, Amkha, et al.
Publicado: (2021) -
Detailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PD(Viangchan) and G6PD(Viangchan) (+) (Mahidol): Decreased stability and catalytic efficiency contribute to the clinical phenotype
por: Boonyuen, Usa, et al.
Publicado: (2016) -
G6PD testing in support of treatment and elimination of malaria: recommendations for evaluation of G6PD tests
por: Domingo, Gonzalo J, et al.
Publicado: (2013)