Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency
نویسندگان
چکیده
منابع مشابه
Molecular Insights on Pathogenic Effects of Mutations Causing Phosphoglycerate Kinase Deficiency
Phosphoglycerate kinase (PGK) catalyzes an important ATP-generating step in glycolysis. PGK1 deficiency is an uncommon X-linked inherited disorder, generally characterized by various combinations of non-spherocytic hemolytic anemia, neurological dysfunctions, and myopathies. Patients rarely exhibit all three clinical features. To provide a molecular framework to the different pathological manif...
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Noonan syndrome (NS) is among the most common nonchromosomal disorders affecting development and growth. NS is caused by aberrant RAS-MAPK signaling and is genetically heterogeneous, which explains, in part, the marked clinical variability documented for this Mendelian trait. Recently, we and others identified SOS1 as a major gene underlying NS. Here, we explored further the spectrum of SOS1 mu...
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Erythrocyte pyruvate kinase deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. We present 6 previously undescribed mutations of the PKLR gene associated with enzyme deficiency located at cDNA nt 476 G-->T (159Gly-->Val), 884 C-->T (295Ala-->Val), 943 G-->A (315Glu-->Lys), 1022 G-->A (341Gly-->Asp), 1511 G-->T (504Arg-->Leu), and 1528 C-->T (510Arg-->Ter). Two of ...
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Background and Aim: Jaundice is a common disorder in neonates and one of the provable causes of glucose-6-phosphate dehydrogenase (G6PD) deficiency, some mutation types of which may be associated with severe neonatal icter. In this line, the present study has been conducted to compare G6PD mutations in incteric and non icteric neonates. Materials and Methods: This case-control study was imple...
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This paper is focused on cloning and bioinformatical as well as immunological characterisation of the new vaccine antigen candidate against fasciolosis – Fasciola hepatica phosphoglycerate kinase (FhPGK). The antigen was cloned from the adult fluke by the use of RACE-PCR method. It was found that FhPGK is not a secretory and not a stage specific protein. It is present in all kinds of parasite t...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0032065