Huck JHJ, Verhoeven NM, Struys EA et al (2004) Ribose 5 phosphate isomerase deficiency:new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalop- athy. Am J Hum Genet 74:745-751Huck JHJ, Verhoeven NM, Struys EA et al (2004) Ribose 5 phosphate ...
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Directed evolution of an industrial biocatalyst: 2-deoxy-D-ribose 5-phosphate aldolase Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leuk... Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and gen...
arare diseasecalled ribose-5-phosphateisomerasedeficiency shows an increase in thepolyolsarabitol,ribitoland erithrol with a white matter disorder according to van der Knaap et al.[9,10]. Furthermore, it has been reported that poly(ADP-ribosyl)ation ofnuclear proteinincreases inAlzheimer's disease...
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Triose phosphate isomeraseis an important candidate for schistosoma antigens. 磷酸丙糖异构酶(TPI)是血吸虫病疫苗重要的候选抗原基因之一。 更多例句>> 补充资料:磷酸化酶磷酸酯酶 分子式: CAS号: 性质:又称磷酸化酶磷酸酯酶。磷酸酯酶一种,EC3.1.3.17,分子量5×104。它的底物是有活性的磷酸化酶a。它所催...
Urine polyols were elevated confirming deficiency of ribose-5-phosphate isomerase (RPI, EC. 5.3.1.6) and pathogenicity of the variants. Measurement of urine polyols should be considered in cases of early-onset white-matter disease.Susan Sklower BrooksSharon AndersonVikram BhiseChristina Botti...
The ribose-5-phosphate isomerase deficiency is andoi:10.1016/j.ijdevneu.2014.06.009Stone, V.Kudo, K.Y.August, P.M.Marcelino, T.B.Matté, C.International Journal of Developmental Neuroscience
RIBOSE 5-PHOSPHATE ISOMERASEPENTOSE-PHOSPHATE PATHWAYBASE-PAIR SUBSTITUTIONSBIOSYNTHESISJUNCTIONSThe main aim of current study was to perform in silico functional analysis of all reported RPIA mutations. In silico analysis was done using different tools i.e. trRosetta tool, Autodock Vina, PatchDock and...
93.6.2Ribose-5-Phosphate Isomerase Deficiency The first and only known case to date of ribose-5-phosphateisomerase(RPI) deficiency was reported and detailed by Huck et al.(99). The affected male patient hadpsychomotor retardationfrom early childhood, developing epilepsy at 4 years of age. Thereaf...