MovDisordV3, Main, Exploration, bibRecord, 000D77

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Identifieur interne : 000D77 ( Main/Exploration ); précédent : 000D76; suivant : 000D78

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Auteurs : Sophie E. Winder-Rhodes [Royaume-Uni] ; Pablo Garcia-Reitböck ; Maria Ban ; Jonathan R. Evans ; Thomas S. Jacques ; Anu Kemppinen ; Thomas Foltynie ; Caroline H. Williams-Gray ; Patrick F. Chinnery ; Gavin Hudson ; David J. Burn ; Liesl M. Allcock ; Stephen J. Sawcer ; Roger A. Barker ; Maria Grazia Spillantini

Source :

Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2012.

RBID : pubmed:22102531

English descriptors

KwdEn :
- Acetylglucosaminidase (genetics), Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged, Mucopolysaccharidosis III (genetics), Mucopolysaccharidosis III (pathology), Parkinson Disease (genetics), Parkinson Disease (pathology), Polymorphism, Single Nucleotide (genetics), alpha-Synuclein (metabolism).
MESH :
- chemical , genetics : Acetylglucosaminidase.
- genetics : Mucopolysaccharidosis III, Parkinson Disease, Polymorphism, Single Nucleotide.
- chemical , metabolism : alpha-Synuclein.
- pathology : Mucopolysaccharidosis III, Parkinson Disease.
- Aged, Cohort Studies, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Male, Middle Aged.

Abstract

Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.

DOI: 10.1002/mds.24029
PubMed: 22102531

Affiliations:

Le document en format XML

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<author><name sortKey="Winder Rhodes, Sophie E" sort="Winder Rhodes, Sophie E" uniqKey="Winder Rhodes S" first="Sophie E" last="Winder-Rhodes">Sophie E. Winder-Rhodes</name>
<affiliation wicri:level="4"><nlm:affiliation>Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.</nlm:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Department of Clinical Neurosciences, University of Cambridge, Cambridge</wicri:regionArea>
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<author><name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name>
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<author><name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name>
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<author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name>
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<author><name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name>
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<author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name>
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<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
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<author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
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<author><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name>
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<author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name>
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<author><name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name>
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<author><name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name>
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<author><name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name>
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<author><name sortKey="Jacques, Thomas S" sort="Jacques, Thomas S" uniqKey="Jacques T" first="Thomas S" last="Jacques">Thomas S. Jacques</name>
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<author><name sortKey="Kemppinen, Anu" sort="Kemppinen, Anu" uniqKey="Kemppinen A" first="Anu" last="Kemppinen">Anu Kemppinen</name>
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<author><name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name>
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<author><name sortKey="Williams Gray, Caroline H" sort="Williams Gray, Caroline H" uniqKey="Williams Gray C" first="Caroline H" last="Williams-Gray">Caroline H. Williams-Gray</name>
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<author><name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
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<author><name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
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<author><name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name>
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<author><name sortKey="Allcock, Liesl M" sort="Allcock, Liesl M" uniqKey="Allcock L" first="Liesl M" last="Allcock">Liesl M. Allcock</name>
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<author><name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name>
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<author><name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name>
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<author><name sortKey="Spillantini, Maria Grazia" sort="Spillantini, Maria Grazia" uniqKey="Spillantini M" first="Maria Grazia" last="Spillantini">Maria Grazia Spillantini</name>
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<term>Aged</term>
<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Middle Aged</term>
<term>Mucopolysaccharidosis III (genetics)</term>
<term>Mucopolysaccharidosis III (pathology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Parkinson Disease (pathology)</term>
<term>Polymorphism, Single Nucleotide (genetics)</term>
<term>alpha-Synuclein (metabolism)</term>
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<term>Parkinson Disease</term>
<term>Polymorphism, Single Nucleotide</term>
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<term>Parkinson Disease</term>
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<term>Cohort Studies</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease</term>
<term>Genetic Testing</term>
<term>Genotype</term>
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<front><div type="abstract" xml:lang="en">Parkinson's disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also a feature of Sanfilippo syndrome, a storage disorder caused by α-N-acetylglucosaminidase (NAGLU) gene mutations. We explored genetic links between these disorders and studied the pathology of Sanfilippo syndrome to investigate a common pathway toward α-synuclein aggregation.</div>
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<name sortKey="Ban, Maria" sort="Ban, Maria" uniqKey="Ban M" first="Maria" last="Ban">Maria Ban</name>
<name sortKey="Barker, Roger A" sort="Barker, Roger A" uniqKey="Barker R" first="Roger A" last="Barker">Roger A. Barker</name>
<name sortKey="Burn, David J" sort="Burn, David J" uniqKey="Burn D" first="David J" last="Burn">David J. Burn</name>
<name sortKey="Chinnery, Patrick F" sort="Chinnery, Patrick F" uniqKey="Chinnery P" first="Patrick F" last="Chinnery">Patrick F. Chinnery</name>
<name sortKey="Evans, Jonathan R" sort="Evans, Jonathan R" uniqKey="Evans J" first="Jonathan R" last="Evans">Jonathan R. Evans</name>
<name sortKey="Foltynie, Thomas" sort="Foltynie, Thomas" uniqKey="Foltynie T" first="Thomas" last="Foltynie">Thomas Foltynie</name>
<name sortKey="Garcia Reitbock, Pablo" sort="Garcia Reitbock, Pablo" uniqKey="Garcia Reitbock P" first="Pablo" last="Garcia-Reitböck">Pablo Garcia-Reitböck</name>
<name sortKey="Hudson, Gavin" sort="Hudson, Gavin" uniqKey="Hudson G" first="Gavin" last="Hudson">Gavin Hudson</name>
<name sortKey="Jacques, Thomas S" sort="Jacques, Thomas S" uniqKey="Jacques T" first="Thomas S" last="Jacques">Thomas S. Jacques</name>
<name sortKey="Kemppinen, Anu" sort="Kemppinen, Anu" uniqKey="Kemppinen A" first="Anu" last="Kemppinen">Anu Kemppinen</name>
<name sortKey="Sawcer, Stephen J" sort="Sawcer, Stephen J" uniqKey="Sawcer S" first="Stephen J" last="Sawcer">Stephen J. Sawcer</name>
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<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Winder Rhodes, Sophie E" sort="Winder Rhodes, Sophie E" uniqKey="Winder Rhodes S" first="Sophie E" last="Winder-Rhodes">Sophie E. Winder-Rhodes</name>
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Movement Disorders (revue)

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.

Source :

English descriptors

Abstract

Links toward previous steps (curation, corpus...)

Le document en format XML

Pour manipuler ce document sous Unix (Dilib)

Pour mettre un lien sur cette page dans le réseau Wicri

Pour générer des pages wiki

	Movement Disorders (revue)
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