Distinct neurological disorders with ATP1A3 mutations.
Identifieur interne : 000A95 ( Main/Curation ); précédent : 000A94; suivant : 000A96Distinct neurological disorders with ATP1A3 mutations.
Auteurs : Erin L. Heinzen [États-Unis] ; Alexis Arzimanoglou [France] ; Allison Brashear [États-Unis] ; Steven J. Clapcote [Royaume-Uni] ; Fiorella Gurrieri [Italie] ; David B. Goldstein [États-Unis] ; Sigur Ur H. J Hannesson [Islande] ; Mohamad A. Mikati [États-Unis] ; Brian Neville [Royaume-Uni] ; Sophie Nicole [France] ; Laurie J. Ozelius [États-Unis] ; Hanne Poulsen [Danemark] ; Tsveta Schyns [Belgique] ; Kathleen J. Sweadner [États-Unis] ; Arn Van Den Maagdenberg [Pays-Bas] ; Bente Vilsen [Danemark]Source :
- The Lancet. Neurology [ 1474-4465 ] ; 2014.
English descriptors
- KwdEn :
- Animals, Databases, Bibliographic (statistics & numerical data), Genetic Predisposition to Disease (genetics), Hemiplegia (genetics), Humans, Models, Molecular, Mutation (genetics), Nervous System Diseases (diagnosis), Nervous System Diseases (genetics), Parkinson Disease (genetics), Sodium-Potassium-Exchanging ATPase (genetics), Sodium-Potassium-Exchanging ATPase (metabolism).
- MESH :
- chemical , genetics : Sodium-Potassium-Exchanging ATPase.
- diagnosis : Nervous System Diseases.
- genetics : Genetic Predisposition to Disease, Hemiplegia, Mutation, Nervous System Diseases, Parkinson Disease.
- chemical , metabolism : Sodium-Potassium-Exchanging ATPase.
- statistics & numerical data : Databases, Bibliographic.
- Animals, Humans, Models, Molecular.
Abstract
Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.
DOI: 10.1016/S1474-4422(14)70011-0
PubMed: 24739246
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pubmed:24739246Le document en format XML
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</affiliation>
</author>
<author><name sortKey="Sweadner, Kathleen J" sort="Sweadner, Kathleen J" uniqKey="Sweadner K" first="Kathleen J" last="Sweadner">Kathleen J. Sweadner</name>
<affiliation wicri:level="2"><nlm:affiliation>Neurosurgery, Massachusetts General Hospital, Boston, MA, USA.</nlm:affiliation>
<country xml:lang="fr">États-Unis</country>
<wicri:regionArea>Neurosurgery, Massachusetts General Hospital, Boston, MA</wicri:regionArea>
<placeName><region type="state">Massachusetts</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Van Den Maagdenberg, Arn" sort="Van Den Maagdenberg, Arn" uniqKey="Van Den Maagdenberg A" first="Arn" last="Van Den Maagdenberg">Arn Van Den Maagdenberg</name>
<affiliation wicri:level="3"><nlm:affiliation>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden, Netherlands.</nlm:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics and Department of Neurology, Leiden University Medical Centre, Leiden</wicri:regionArea>
<placeName><settlement type="city">Leyde</settlement>
<region nuts="2" type="province">Hollande-Méridionale</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Vilsen, Bente" sort="Vilsen, Bente" uniqKey="Vilsen B" first="Bente" last="Vilsen">Bente Vilsen</name>
<affiliation wicri:level="1"><nlm:affiliation>Department of Biomedicine, Aarhus University, Aarhus, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Biomedicine, Aarhus University, Aarhus</wicri:regionArea>
<wicri:noRegion>Aarhus</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">The Lancet. Neurology</title>
<idno type="eISSN">1474-4465</idno>
<imprint><date when="2014" type="published">2014</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Animals</term>
<term>Databases, Bibliographic (statistics & numerical data)</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Hemiplegia (genetics)</term>
<term>Humans</term>
<term>Models, Molecular</term>
<term>Mutation (genetics)</term>
<term>Nervous System Diseases (diagnosis)</term>
<term>Nervous System Diseases (genetics)</term>
<term>Parkinson Disease (genetics)</term>
<term>Sodium-Potassium-Exchanging ATPase (genetics)</term>
<term>Sodium-Potassium-Exchanging ATPase (metabolism)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Nervous System Diseases</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term>
<term>Hemiplegia</term>
<term>Mutation</term>
<term>Nervous System Diseases</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Sodium-Potassium-Exchanging ATPase</term>
</keywords>
<keywords scheme="MESH" qualifier="statistics & numerical data" xml:lang="en"><term>Databases, Bibliographic</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Animals</term>
<term>Humans</term>
<term>Models, Molecular</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific. Although the exact mechanism of how these mutations lead to disease is still unknown, much knowledge has been gained about functional consequences of ATP1A3 mutations using a range of in-vitro and animal model systems, and the role of Na(+)/K(+)-ATPases in the brain. Researchers and clinicians are attempting to further characterise neurological manifestations associated with mutations in ATP1A3, and to build on the existing molecular knowledge to understand how specific mutations can lead to different diseases.</div>
</front>
</TEI>
</record>
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