Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
Pt 1
pubmed:dateCreated
2001-1-26
pubmed:abstractText
Patients with hereditary glutathione synthetase (GS) (EC 6.3.2.3) deficiency present with variable clinical pictures, presumably related to the nature of the mutations involved. In order to elucidate the relationship between genotype, enzyme function and clinical phenotype, we have characterized enzyme kinetic parameters of missense mutations R125C, R267W, R330C and G464V from patients with GS deficiency. One of the mutations predominantly affected the K(m) value, with decreased affinity for glycine, two mutations influenced both K(m) and V(max) values, and one mutation reduced the stability of the enzyme. This characterization agrees well with predictions based on the recently reported crystal structure of human GS. Thus our data indicate that different mutations can affect the catalytic capacity of GS by decreasing substrate affinity, maximal velocity or enzyme stability.
pubmed:commentsCorrections
http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-10369661, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-10450861, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-10739172, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-2742123, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-4152248, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-447639, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-6035915, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-6389479, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-7646467, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-8825653, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-8896573, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-9003420, http://linkedlifedata.com/resource/pubmed/commentcorrection/10861239-9215686
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0264-6021
pubmed:author
pubmed:issnType
Print
pubmed:day
1
pubmed:volume
349
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
275-9
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
2000
pubmed:articleTitle
Kinetic properties of missense mutations in patients with glutathione synthetase deficiency.
pubmed:affiliation
Department of Paediatrics, B57, Karolinska Institutet, Huddinge University Hospital, S-141 86 Huddinge, Sweden. runa.njalsson@mednut.ki.se
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't