In Human and Mouse Spino-Cerebellar Tissue, Ataxin-2 Expansion Affects Ceramide-Sphingomyelin Metabolism.

Animals Ataxin-2 / genetics Ceramides / metabolism Disease Models, Animal Eye Proteins / genetics Humans Lipid Metabolism / genetics Membrane Proteins / genetics Mice, Knockout Sphingomyelin Phosphodiesterase / genetics Sphingomyelins / metabolism Sphingosine N-Acyltransferase / genetics Spinocerebellar Ataxias / genetics Trinucleotide Repeat Expansion / genetics
SCA34 SCA38 Smpd1) acid sphingomyelinase (ASMase amyotrophic lateral sclerosis (ALS) ceramide synthase (CERS2/CERS1) fatty acid elongase (Elovl1/4/5) leukodystrophy neutral ceramidase (Asah2) neutral sphingomyelinase (Smpd3) olivo-ponto-cerebellar atrophy (OPCA) serine palmitoyltransferase 2 (Sptlc2)

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
21 Nov 2019
Historique:
received: 04 11 2019
revised: 19 11 2019
accepted: 20 11 2019
entrez: 27 11 2019
pubmed: 27 11 2019
medline: 21 4 2020
Statut: epublish

Résumé

Ataxin-2 (human gene symbol

Identifiants

DOI: 10.3390/ijms20235854 PMID: 31766565 PMC: PMC6928749
pubmed: 31766565
pii: ijms20235854
doi: 10.3390/ijms20235854
pmc: PMC6928749
pii:
doi:

Substances chimiques

Ataxin-2 0
Ceramides 0
Elovl4 protein, mouse 0
Eye Proteins 0
Membrane Proteins 0
Sphingomyelins 0
Cers2 protein, mouse EC 2.3.1.24
Sphingosine N-Acyltransferase EC 2.3.1.24
Smpd3 protein, mouse EC 3.1.4.12
Sphingomyelin Phosphodiesterase EC 3.1.4.12

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Deutsche Forschungsgemeinschaft
ID : AU96 11/1
Organisme : Deutsche Forschungsgemeinschaft
ID : AU96 11/3

Déclaration de conflit d'intérêts

The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

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Auteurs

Nesli-Ece Sen (NE)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.
Faculty of Biosciences, Goethe-University, 60438, Frankfurt am Main, Germany.

Aleksandar Arsovic (A)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

David Meierhofer (D)

Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany.

Susanne Brodesser (S)

Membrane Biology and Lipid Biochemistry Unit, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany.
ORCID: 0000-0001-5631-0663

Carola Oberschmidt (C)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

Júlia Canet-Pons (J)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

Zeynep-Ece Kaya (ZE)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.
Cerrahpasa School of Medicine, Istanbul University, 34098 Istanbul, Turkey.

Melanie-Vanessa Halbach (MV)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

Suzana Gispert (S)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

Konrad Sandhoff (K)

Membrane Biology and Lipid Biochemistry Unit, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany.

Georg Auburger (G)

Experimental Neurology, Building 89, Goethe University Medical Faculty, Theodor Stern Kai 7, 60590 Frankfurt am Main, Germany.

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines de liaison au poly(A) › Ataxine-2 › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Glycosphingolipides › Glycosphingolipides neutres › Céramides › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de l'oeil › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Métabolisme › Métabolisme lipidique › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Esterases › Phosphodiesterases › Sphingomyeline phosphodiesterase › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Lipides › Lipides membranaires › Sphingolipides › Glycosphingolipides › Glycosphingolipides neutres › Sphingomyéline › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Transferases › Acyltransferases › Sphingosine N-acyltransferase › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Dégénérescences spinocérébelleuses › Ataxies spinocérébelleuses › In Human and Mouse Spino-Cerebellar Tissue,...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › Expansion de trinucléotide répété › In Human and Mouse Spino-Cerebellar Tissue,...