Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin
Identifieur interne : 001495 ( Main/Exploration ); précédent : 001494; suivant : 001496Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin
Auteurs : Sathya R. Sriram ; Xiaojie Li ; Han Seok Ko ; Kenny K. K. Chung ; Esther Wong [Singapour] ; Kah Leong Lim [Singapour] ; Valina L. Dawson ; Ted M. Dawson [États-Unis]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2005-09-01.
Abstract
Mutations in parkin are largely associated with autosomal recessive juvenile parkinsonism. The underlying mechanism of pathogenesis in parkin-associated Parkinson's disease (PD) is thought to be due to the loss of parkin's E3 ubiquitin ligase activity. A subset of missense and nonsense point mutations in parkin that span the entire gene and represent the numerous inheritance patterns that are associated with parkin-linked PD were investigated for their E3 ligase activity, localization and their ability to bind, ubiquitinate and effect the degradation of two substrates, synphilin-1 and aminoacyl-tRNA synthetase complex cofactor, p38. Parkin mutants vary in their intracellular localization, binding to substrates and enzymatic activity, yet they are ultimately deficient in their ability to degrade substrate. These results suggest that not all parkin mutations result in loss of parkin's E3 ligase activity, but they all appear to manifest as loss-of-function mutants due to defects in solubility, aggregation, enzymatic activity or targeting proteins to the proteasome for degradation.
Url:
DOI: 10.1093/hmg/ddi292
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin</title>
<author><name sortKey="Sriram, Sathya R" sort="Sriram, Sathya R" uniqKey="Sriram S" first="Sathya R." last="Sriram">Sathya R. Sriram</name>
</author>
<author><name sortKey="Li, Xiaojie" sort="Li, Xiaojie" uniqKey="Li X" first="Xiaojie" last="Li">Xiaojie Li</name>
</author>
<author><name sortKey="Ko, Han Seok" sort="Ko, Han Seok" uniqKey="Ko H" first="Han Seok" last="Ko">Han Seok Ko</name>
</author>
<author><name sortKey="Chung, Kenny K K" sort="Chung, Kenny K K" uniqKey="Chung K" first="Kenny K. K." last="Chung">Kenny K. K. Chung</name>
</author>
<author><name sortKey="Wong, Esther" sort="Wong, Esther" uniqKey="Wong E" first="Esther" last="Wong">Esther Wong</name>
</author>
<author><name sortKey="Lim, Kah Leong" sort="Lim, Kah Leong" uniqKey="Lim K" first="Kah Leong" last="Lim">Kah Leong Lim</name>
</author>
<author><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
</author>
<author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:7C61A0EEE6D9282C488F92D5714D42965C021548</idno>
<date when="2005" year="2005">2005</date>
<idno type="doi">10.1093/hmg/ddi292</idno>
<idno type="url">https://api.istex.fr/document/7C61A0EEE6D9282C488F92D5714D42965C021548/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">001703</idno>
<idno type="wicri:Area/Main/Curation">001467</idno>
<idno type="wicri:Area/Main/Exploration">001495</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin</title>
<author><name sortKey="Sriram, Sathya R" sort="Sriram, Sathya R" uniqKey="Sriram S" first="Sathya R." last="Sriram">Sathya R. Sriram</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Li, Xiaojie" sort="Li, Xiaojie" uniqKey="Li X" first="Xiaojie" last="Li">Xiaojie Li</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neurology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Ko, Han Seok" sort="Ko, Han Seok" uniqKey="Ko H" first="Han Seok" last="Ko">Han Seok Ko</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neurology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Chung, Kenny K K" sort="Chung, Kenny K K" uniqKey="Chung K" first="Kenny K. K." last="Chung">Kenny K. K. Chung</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neurology and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Wong, Esther" sort="Wong, Esther" uniqKey="Wong E" first="Esther" last="Wong">Esther Wong</name>
<affiliation wicri:level="1"><country xml:lang="fr">Singapour</country>
<wicri:regionArea>Neurodegeneration Laboratory, National Neurosciences Institute</wicri:regionArea>
<wicri:noRegion>National Neurosciences Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lim, Kah Leong" sort="Lim, Kah Leong" uniqKey="Lim K" first="Kah Leong" last="Lim">Kah Leong Lim</name>
<affiliation wicri:level="1"><country xml:lang="fr">Singapour</country>
<wicri:regionArea>Neurodegeneration Laboratory, National Neurosciences Institute</wicri:regionArea>
<wicri:noRegion>National Neurosciences Institute</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neurology and</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neuroscience and</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField">USA and</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="subField"></wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neurology and</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">Department of Neuroscience and</wicri:noCountry>
</affiliation>
<affiliation wicri:level="1"><country wicri:rule="url">États-Unis</country>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Human Molecular Genetics</title>
<title level="j" type="abbrev">Hum. Mol. Genet.</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2005-09-01">2005-09-01</date>
<biblScope unit="volume">14</biblScope>
<biblScope unit="issue">17</biblScope>
<biblScope unit="page" from="2571">2571</biblScope>
<biblScope unit="page" to="2586">2586</biblScope>
</imprint>
<idno type="ISSN">0964-6906</idno>
</series>
<idno type="istex">7C61A0EEE6D9282C488F92D5714D42965C021548</idno>
<idno type="DOI">10.1093/hmg/ddi292</idno>
<idno type="href">ddi292</idno>
<idno type="local">ddi292</idno>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">0964-6906</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass></textClass>
<langUsage><language ident="en">en</language>
</langUsage>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Mutations in parkin are largely associated with autosomal recessive juvenile parkinsonism. The underlying mechanism of pathogenesis in parkin-associated Parkinson's disease (PD) is thought to be due to the loss of parkin's E3 ubiquitin ligase activity. A subset of missense and nonsense point mutations in parkin that span the entire gene and represent the numerous inheritance patterns that are associated with parkin-linked PD were investigated for their E3 ligase activity, localization and their ability to bind, ubiquitinate and effect the degradation of two substrates, synphilin-1 and aminoacyl-tRNA synthetase complex cofactor, p38. Parkin mutants vary in their intracellular localization, binding to substrates and enzymatic activity, yet they are ultimately deficient in their ability to degrade substrate. These results suggest that not all parkin mutations result in loss of parkin's E3 ligase activity, but they all appear to manifest as loss-of-function mutants due to defects in solubility, aggregation, enzymatic activity or targeting proteins to the proteasome for degradation.</div>
</front>
</TEI>
<affiliations><list><country><li>Singapour</li>
<li>États-Unis</li>
</country>
</list>
<tree><noCountry><name sortKey="Chung, Kenny K K" sort="Chung, Kenny K K" uniqKey="Chung K" first="Kenny K. K." last="Chung">Kenny K. K. Chung</name>
<name sortKey="Dawson, Valina L" sort="Dawson, Valina L" uniqKey="Dawson V" first="Valina L." last="Dawson">Valina L. Dawson</name>
<name sortKey="Ko, Han Seok" sort="Ko, Han Seok" uniqKey="Ko H" first="Han Seok" last="Ko">Han Seok Ko</name>
<name sortKey="Li, Xiaojie" sort="Li, Xiaojie" uniqKey="Li X" first="Xiaojie" last="Li">Xiaojie Li</name>
<name sortKey="Sriram, Sathya R" sort="Sriram, Sathya R" uniqKey="Sriram S" first="Sathya R." last="Sriram">Sathya R. Sriram</name>
</noCountry>
<country name="Singapour"><noRegion><name sortKey="Wong, Esther" sort="Wong, Esther" uniqKey="Wong E" first="Esther" last="Wong">Esther Wong</name>
</noRegion>
<name sortKey="Lim, Kah Leong" sort="Lim, Kah Leong" uniqKey="Lim K" first="Kah Leong" last="Lim">Kah Leong Lim</name>
</country>
<country name="États-Unis"><noRegion><name sortKey="Dawson, Ted M" sort="Dawson, Ted M" uniqKey="Dawson T" first="Ted M." last="Dawson">Ted M. Dawson</name>
</noRegion>
</country>
</tree>
</affiliations>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001495 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 001495 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Sante |area= ParkinsonV1 |flux= Main |étape= Exploration |type= RBID |clé= ISTEX:7C61A0EEE6D9282C488F92D5714D42965C021548 |texte= Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin }}
This area was generated with Dilib version V0.6.23. |