@prefix dc: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_head
{
this:
np:hasAssertion
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_assertion
;
np:hasProvenance
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np:hasPublicationInfo
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a
np:Nanopublication
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a
np:Assertion
.
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np:Provenance
.
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_publicationInfo
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np:PublicationInfo
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dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_assertion
{
miriam-gene:189
a
ncit:C16612
.
lld:C0268164
a
ncit:C7057
.
dgn-gda:DGN85644a289fafc2038d54a3ff8dded4b3
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,
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;
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.
}
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_provenance
{
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_assertion
dc:description
"[The results presented in this paper show the following: 1) normal human His-tagged AGT can be expressed at high levels in Escherichia coli and purified in a correctly folded, dimerized and catalytically active state; 2) presence of the common P11L polymorphism decreases the specific activity of purified recombinant AGT by a factor of three; 3) AGTs containing four of the most common PH1-specific mutations (G41R, F152I, G170R, and I244T) are all soluble and catalytically active in the absence of the P11L polymorphism, but in its presence all lead to protein destabilization and aggregation into inclusion bodies; 4) naturally occurring and artificial amino acid substitutions that lead to peroxisome-to-mitochondrion AGT mistargeting in mammalian cells also lead to destabilization and aggregation in E. coli; and 5) the PH1-specific G82E mutation abolishes AGT catalytic activity by interfering with cofactor binding, as does the artificial K209R mutation at the putative site of cofactor Shiff base formation.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:10960483
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP1884.RAQiZ44syxQ5f7jtqSuFH6HWLwiPDe2l5xA9-og5W0zwQ130_publicationInfo
{
this:
dc:created
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xsd:dateTime
;
dc:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
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dgn-void:IBIGroup
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dc:subject
sio:SIO_000983
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,
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