Parkinson's disease: insights from pathways
Identifieur interne : 000444 ( Main/Exploration ); précédent : 000443; suivant : 000445Parkinson's disease: insights from pathways
Auteurs : Mark R. Cookson ; Oliver Bandmann [Royaume-Uni]Source :
- Human Molecular Genetics [ 0964-6906 ] ; 2010-04-15.
Abstract
Parkinson's disease (PD) typically presents in sporadic fashion, but the identification of disease-causing mutations in monogenically inherited PD genes has provided crucial insight into the pathogenesis of this disorder. Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. At least two of these genes (PINK1 and parkin) appear to work in the same pathway related to maintenance of mitochondrial functional integrity under conditions of oxidative stress. Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) and -synuclein cause late onset PD, generally with Lewy bodies that are characteristic of sporadic PD and there is evidence that these two genes are also in a common pathway. There is also growing evidence from recently undertaken genome-wide association studies that naturally occurring sequence variants in -synuclein and LRRK2, but also Tau, also confer an increased risk for late onset, sporadic PD. Collectively, these results highlight how understanding pathways for inherited PD are starting to impact ideas about the pathogenesis, some of which may also be relevant to the commoner sporadic disease.
Url:
DOI: 10.1093/hmg/ddq167
Affiliations:
Links toward previous steps (curation, corpus...)
Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Parkinson's disease: insights from pathways</title>
<author><name sortKey="Cookson, Mark R" sort="Cookson, Mark R" uniqKey="Cookson M" first="Mark R." last="Cookson">Mark R. Cookson</name>
</author>
<author><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</name>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:335805F4366667342F7E26C11401F9340C09D5BD</idno>
<date when="2010" year="2010">2010</date>
<idno type="doi">10.1093/hmg/ddq167</idno>
<idno type="url">https://api.istex.fr/document/335805F4366667342F7E26C11401F9340C09D5BD/fulltext/pdf</idno>
<idno type="wicri:Area/Main/Corpus">000B66</idno>
<idno type="wicri:Area/Main/Curation">000A21</idno>
<idno type="wicri:Area/Main/Exploration">000444</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a">Parkinson's disease: insights from pathways</title>
<author><name sortKey="Cookson, Mark R" sort="Cookson, Mark R" uniqKey="Cookson M" first="Mark R." last="Cookson">Mark R. Cookson</name>
<affiliation><wicri:noCountry code="syntax">???</wicri:noCountry>
</affiliation>
<affiliation><wicri:noCountry code="no comma">E-mail: cookson@mail.nih.gov</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</name>
<affiliation wicri:level="1"><country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>RX</wicri:regionArea>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j">Human Molecular Genetics</title>
<idno type="ISSN">0964-6906</idno>
<idno type="eISSN">1460-2083</idno>
<imprint><publisher>Oxford University Press</publisher>
<date type="published" when="2010-04-15">2010-04-15</date>
<biblScope unit="volume">19</biblScope>
<biblScope unit="issue">R1</biblScope>
<biblScope unit="page" from="R21">R21</biblScope>
<biblScope unit="page" to="R27">R27</biblScope>
</imprint>
<idno type="ISSN">0964-6906</idno>
</series>
<idno type="istex">335805F4366667342F7E26C11401F9340C09D5BD</idno>
<idno type="DOI">10.1093/hmg/ddq167</idno>
<idno type="ArticleID">ddq167</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">Parkinson's disease (PD) typically presents in sporadic fashion, but the identification of disease-causing mutations in monogenically inherited PD genes has provided crucial insight into the pathogenesis of this disorder. Mutations in autosomal recessively inherited genes, namely parkin, PINK1 and DJ-1, typically lead to early onset parkinsonism. At least two of these genes (PINK1 and parkin) appear to work in the same pathway related to maintenance of mitochondrial functional integrity under conditions of oxidative stress. Dominantly inherited mutations in leucine-rich repeat kinase 2 (LRRK2) and -synuclein cause late onset PD, generally with Lewy bodies that are characteristic of sporadic PD and there is evidence that these two genes are also in a common pathway. There is also growing evidence from recently undertaken genome-wide association studies that naturally occurring sequence variants in -synuclein and LRRK2, but also Tau, also confer an increased risk for late onset, sporadic PD. Collectively, these results highlight how understanding pathways for inherited PD are starting to impact ideas about the pathogenesis, some of which may also be relevant to the commoner sporadic disease.</div>
</front>
</TEI>
<affiliations><list><country><li>Royaume-Uni</li>
</country>
</list>
<tree><noCountry><name sortKey="Cookson, Mark R" sort="Cookson, Mark R" uniqKey="Cookson M" first="Mark R." last="Cookson">Mark R. Cookson</name>
</noCountry>
<country name="Royaume-Uni"><noRegion><name sortKey="Bandmann, Oliver" sort="Bandmann, Oliver" uniqKey="Bandmann O" first="Oliver" last="Bandmann">Oliver Bandmann</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 000444 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 000444 | 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:335805F4366667342F7E26C11401F9340C09D5BD |texte= Parkinson's disease: insights from pathways }}
This area was generated with Dilib version V0.6.23. |