Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)*
Identifieur interne : 001591 ( Main/Curation ); précédent : 001590; suivant : 001592Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)*
Auteurs : Guennadi Kozlov ; Alexey Y. Denisov ; Martine Girard ; Marie-Josée Dicaire ; Jason Hamlin ; Peter S. Mcpherson ; Bernard Brais ; Kalle GehringSource :
- The Journal of Biological Chemistry [ 0021-9258 ] ; 2011.
Abstract
Sacsin is a 520-kDa protein mutated in the early-onset neurodevelopmental and neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The C terminus of the protein contains an HEPN (
Url:
DOI: 10.1074/jbc.M111.232884
PubMed: 21507954
PubMed Central: 3121481
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :000556
- to stream Pmc, to step Curation: Pour aller vers cette notice dans l'étape Curation :000556
- to stream Pmc, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000897
- to stream Ncbi, to step Merge: Pour aller vers cette notice dans l'étape Curation :000E63
- to stream Ncbi, to step Curation: Pour aller vers cette notice dans l'étape Curation :000E63
- to stream Ncbi, to step Checkpoint: Pour aller vers cette notice dans l'étape Curation :000E63
- to stream Main, to step Merge: Pour aller vers cette notice dans l'étape Curation :001656
Links to Exploration step
PMC:3121481Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)<xref ref-type="fn" rid="FN1">*</xref>
<xref ref-type="fn" rid="FN2"><sup><inline-graphic xlink:href="sbox.jpg"></inline-graphic>
</sup>
</xref>
</title>
<author><name sortKey="Kozlov, Guennadi" sort="Kozlov, Guennadi" uniqKey="Kozlov G" first="Guennadi" last="Kozlov">Guennadi Kozlov</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Denisov, Alexey Y" sort="Denisov, Alexey Y" uniqKey="Denisov A" first="Alexey Y." last="Denisov">Alexey Y. Denisov</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Girard, Martine" sort="Girard, Martine" uniqKey="Girard M" first="Martine" last="Girard">Martine Girard</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Dicaire, Marie Josee" sort="Dicaire, Marie Josee" uniqKey="Dicaire M" first="Marie-Josée" last="Dicaire">Marie-Josée Dicaire</name>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hamlin, Jason" sort="Hamlin, Jason" uniqKey="Hamlin J" first="Jason" last="Hamlin">Jason Hamlin</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mcpherson, Peter S" sort="Mcpherson, Peter S" uniqKey="Mcpherson P" first="Peter S." last="Mcpherson">Peter S. Mcpherson</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gehring, Kalle" sort="Gehring, Kalle" uniqKey="Gehring K" first="Kalle" last="Gehring">Kalle Gehring</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">PMC</idno>
<idno type="pmid">21507954</idno>
<idno type="pmc">3121481</idno>
<idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3121481</idno>
<idno type="RBID">PMC:3121481</idno>
<idno type="doi">10.1074/jbc.M111.232884</idno>
<date when="2011">2011</date>
<idno type="wicri:Area/Pmc/Corpus">000556</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">000556</idno>
<idno type="wicri:Area/Pmc/Curation">000556</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">000556</idno>
<idno type="wicri:Area/Pmc/Checkpoint">000897</idno>
<idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">000897</idno>
<idno type="wicri:Area/Ncbi/Merge">000E63</idno>
<idno type="wicri:Area/Ncbi/Curation">000E63</idno>
<idno type="wicri:Area/Ncbi/Checkpoint">000E63</idno>
<idno type="wicri:doubleKey">0021-9258:2011:Kozlov G:structural:basis:of</idno>
<idno type="wicri:Area/Main/Merge">001656</idno>
<idno type="wicri:Area/Main/Curation">001591</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)<xref ref-type="fn" rid="FN1">*</xref>
<xref ref-type="fn" rid="FN2"><sup><inline-graphic xlink:href="sbox.jpg"></inline-graphic>
</sup>
</xref>
</title>
<author><name sortKey="Kozlov, Guennadi" sort="Kozlov, Guennadi" uniqKey="Kozlov G" first="Guennadi" last="Kozlov">Guennadi Kozlov</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Denisov, Alexey Y" sort="Denisov, Alexey Y" uniqKey="Denisov A" first="Alexey Y." last="Denisov">Alexey Y. Denisov</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Girard, Martine" sort="Girard, Martine" uniqKey="Girard M" first="Martine" last="Girard">Martine Girard</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Dicaire, Marie Josee" sort="Dicaire, Marie Josee" uniqKey="Dicaire M" first="Marie-Josée" last="Dicaire">Marie-Josée Dicaire</name>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Hamlin, Jason" sort="Hamlin, Jason" uniqKey="Hamlin J" first="Jason" last="Hamlin">Jason Hamlin</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Mcpherson, Peter S" sort="Mcpherson, Peter S" uniqKey="Mcpherson P" first="Peter S." last="Mcpherson">Peter S. Mcpherson</name>
<affiliation><nlm:aff id="aff3"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Brais, Bernard" sort="Brais, Bernard" uniqKey="Brais B" first="Bernard" last="Brais">Bernard Brais</name>
<affiliation><nlm:aff id="aff2"></nlm:aff>
</affiliation>
</author>
<author><name sortKey="Gehring, Kalle" sort="Gehring, Kalle" uniqKey="Gehring K" first="Kalle" last="Gehring">Kalle Gehring</name>
<affiliation><nlm:aff id="aff1"></nlm:aff>
</affiliation>
</author>
</analytic>
<series><title level="j">The Journal of Biological Chemistry</title>
<idno type="ISSN">0021-9258</idno>
<idno type="eISSN">1083-351X</idno>
<imprint><date when="2011">2011</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass></textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p>Sacsin is a 520-kDa protein mutated in the early-onset neurodevelopmental and neurodegenerative disease autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). The C terminus of the protein contains an HEPN (<underline>h</underline>
igher <underline>e</underline>
ukaryotes and <underline>p</underline>
rokaryotes <underline>n</underline>
ucleotide-binding) domain of unknown function. Here, we determined the high-resolution 1.9-Å crystal structure of the HEPN domain from human sacsin. The structure is composed of five parallel α-helices with a large loop of several short helical segments. Two HEPN protomers assemble as a dimer to form a large positively charged cavity at the dimer interface that binds GTP and other nucleotides. The crystal structure reveals that the ARSACS N4549D mutation disrupts dimerization and protein folding. This study provides novel insights into the oligomerization state of sacsin and functions that are lost in mutations that cause ARSACS.</p>
</div>
</front>
</TEI>
</record>
Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Canada/explor/ParkinsonCanadaV1/Data/Main/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001591 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Curation/biblio.hfd -nk 001591 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien |wiki= Wicri/Canada |area= ParkinsonCanadaV1 |flux= Main |étape= Curation |type= RBID |clé= PMC:3121481 |texte= Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)* }}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Curation/RBID.i -Sk "pubmed:21507954" \ | HfdSelect -Kh $EXPLOR_AREA/Data/Main/Curation/biblio.hfd \ | NlmPubMed2Wicri -a ParkinsonCanadaV1
![]() | This area was generated with Dilib version V0.6.29. | ![]() |