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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F10%3A7879%21RIV11-GA0-11110___
rdf:type
n18:Vysledek skos:Concept
dcterms:description
Adenylosuccinate lyase (ADSL) deficiency, an inborn error of purine metabolism, leads to accumulation of dephosphorylated ADSL substrates SAICA-riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids and affects the patients´ nervous system. Severity of symptoms differs and correlates with diverse S-Ado/SAICAr concentrations´ ratio in cerebrospinal fluid. To identify biochemical and structural basis of the S-Ado/SAICAr ratio and phenotypic heterogeneity we expressed and characterized 19 ADSL mutant proteins corresponding to 16 clinically well characterized genotypes. We found that phenotypic severity correlates with residual enzymatic activities and structural stability of the corresponding mutant ADSL complex and does not result from genotype-specific disproportional catalytic activities toward one of the enzyme substrates. It suggests that S-Ado/SAICAr ratio value is probably not predictive of phenotype severity but rather it may be secondary to degree of patient’s development and brain matur Adenylosuccinate lyase (ADSL) deficiency, an inborn error of purine metabolism, leads to accumulation of dephosphorylated ADSL substrates SAICA-riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids and affects the patients´ nervous system. Severity of symptoms differs and correlates with diverse S-Ado/SAICAr concentrations´ ratio in cerebrospinal fluid. To identify biochemical and structural basis of the S-Ado/SAICAr ratio and phenotypic heterogeneity we expressed and characterized 19 ADSL mutant proteins corresponding to 16 clinically well characterized genotypes. We found that phenotypic severity correlates with residual enzymatic activities and structural stability of the corresponding mutant ADSL complex and does not result from genotype-specific disproportional catalytic activities toward one of the enzyme substrates. It suggests that S-Ado/SAICAr ratio value is probably not predictive of phenotype severity but rather it may be secondary to degree of patient’s development and brain matur
dcterms:title
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
skos:prefLabel
Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency
skos:notation
RIV/00216208:11110/10:7879!RIV11-GA0-11110___
n3:aktivita
n14:I n14:P n14:Z
n3:aktivity
I, P(1M0520), P(GA301/07/0600), Z(MSM0021620806)
n3:cisloPeriodika
4
n3:dodaniDat
n13:2011
n3:domaciTvurceVysledku
n8:3909581 n8:9185283 n8:6080391 n8:4181263 n8:1756176
n3:druhVysledku
n16:J
n3:duvernostUdaju
n17:S
n3:entitaPredkladatele
n5:predkladatel
n3:idSjednocenehoVysledku
248826
n3:idVysledku
RIV/00216208:11110/10:7879
n3:jazykVysledku
n10:eng
n3:klicovaSlova
adenylosuccinate lyase; ADSL deficiency; phenotype heterogeneity; de novo purine synthesis; purine nucleotide cycle; intersubunit complementation; purine nucleotide cycle; bacillus-subtilis; skeletal-muscle; succinyladenosine; gene; site
n3:klicoveSlovo
n12:phenotype%20heterogeneity n12:ADSL%20deficiency n12:skeletal-muscle n12:gene n12:adenylosuccinate%20lyase n12:site n12:succinyladenosine n12:purine%20nucleotide%20cycle n12:de%20novo%20purine%20synthesis n12:intersubunit%20complementation n12:bacillus-subtilis
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[BDC820972891]
n3:nazevZdroje
Human Mutation
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
5
n3:projekt
n6:1M0520 n6:GA301%2F07%2F0600
n3:rokUplatneniVysledku
n13:2010
n3:svazekPeriodika
31
n3:tvurceVysledku
Škopová, Václava Kmoch, Stanislav Hnízda, Aleš Zikánová, Marie Krijt, Jakub
n3:wos
000276810600009
n3:zamer
n4:MSM0021620806
s:issn
1059-7794
s:numberOfPages
11
n11:organizacniJednotka
11110