About: Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency

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About: Biochemical and Structural Analysis of 14 Mutant ADSL Enzyme Complexes and Correlation to Phenotypic Heterogeneity of Adenylosuccinate Lyase Deficiency Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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 (en)
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 (en)
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 (en)
skos:notation	RIV/00216208:11110/10:7879!RIV11-GA0-11110___
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(1M0520), P(GA301/07/0600), Z(MSM0021620806)
http://linked.open...iv/cisloPeriodika	4
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Škopová, Václava Zikánová, Marie Hnízda, Aleš Krijt, Jakub Kmoch, Stanislav
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	248826
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7879
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	gene site bacillus-subtilis ADSL deficiency adenylosuccinate lyase de novo purine synthesis intersubunit complementation phenotype heterogeneity purine nucleotide cycle succinyladenosine skeletal-muscle
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[BDC820972891]
http://linked.open...i/riv/nazevZdroje	Human Mutation
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...vavai/riv/projekt	Intersubunit complementation studies and characterization of genotype - phenotype correlations in adenylosuccinate lyase deficiency Center for Applied Genomics
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	31
http://linked.open...iv/tvurceVysledku	Hnízda, Aleš Krijt, Jakub Kmoch, Stanislav Zikánová, Marie Škopová, Václava
http://linked.open...ain/vavai/riv/wos	000276810600009
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů
issn	1059-7794
number of pages	11 (xsd:int)
http://localhost/t...ganizacniJednotka	11110

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