ADAR2 mislocalization and widespread RNA editing aberrations in C9orf72-mediated ALS/FTD.

Adenosine Deaminase / genetics Amyotrophic Lateral Sclerosis / genetics Animals C9orf72 Protein / genetics DNA Repeat Expansion / genetics Frontotemporal Dementia / genetics Humans Induced Pluripotent Stem Cells / metabolism Mice, Transgenic Pick Disease of the Brain / genetics RNA Editing / genetics RNA-Binding Proteins / genetics
ADAR2 ALS C9orf72 FTD Neurodegeneration Nucleocytoplasmic mislocalization Protein accumulation RNA editing RNA metabolism RNA-seq iPSC neurons

Journal

Acta neuropathologica
ISSN: 1432-0533
Titre abrégé: Acta Neuropathol
Pays: Germany
ID NLM: 0412041

Informations de publication

Date de publication:
07 2019
Historique:
received: 14 09 2018
accepted: 28 03 2019
revised: 28 03 2019
pubmed: 5 4 2019
medline: 22 7 2020
entrez: 5 4 2019
Statut: ppublish

Résumé

The hexanucleotide repeat expansion GGGGCC (G

Identifiants

DOI: 10.1007/s00401-019-01999-w PMID: 30945056 PMC: PMC6750285
pubmed: 30945056
doi: 10.1007/s00401-019-01999-w
pii: 10.1007/s00401-019-01999-w
pmc: PMC6750285
mid: NIHMS1049476
doi:

Substances chimiques

C9orf72 Protein 0
C9orf72 protein, human 0
C9orf72 protein, mouse 0
RNA-Binding Proteins 0
ADAR2 protein, mouse EC 3.5.4.4
ADARB1 protein, human EC 3.5.4.4
Adenosine Deaminase EC 3.5.4.4

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, Non-P.H.S.

Langues

eng

Sous-ensembles de citation

IM

Pagination

49-65

Subventions

Organisme : NINDS NIH HHS
ID : R01 NS088689
Pays : United States
Organisme : NINDS NIH HHS
ID : P01 NS099114
Pays : United States
Organisme : U.S. Department of Defense
ID : W81XWH-15-1-0187
Pays : International
Organisme : NINDS NIH HHS
ID : R01 NS085207
Pays : United States
Organisme : NINDS NIH HHS
ID : P01 NS084974
Pays : United States
Organisme : NINDS NIH HHS
ID : R35 NS097273
Pays : United States
Organisme : NINDS NIH HHS
ID : R01 NS097850
Pays : United States

Commentaires et corrections

Type : CommentIn
Type : ErratumIn

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Auteurs

Stephen Moore (S)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.
School of Life Sciences, Arizona State University, Tempe, AZ, USA.

Eric Alsop (E)

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

Ileana Lorenzini (I)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Alexander Starr (A)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Benjamin E Rabichow (BE)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Emily Mendez (E)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Jennifer L Levy (JL)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Camelia Burciu (C)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA.

Rebecca Reiman (R)

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

Jeannie Chew (J)

Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.

Veronique V Belzil (VV)

Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.

Dennis W Dickson (D)

Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.

Janice Robertson (J)

Tanz Centre for Research in Neurodegenerative Diseases, University of Toronto, Toronto, Canada.

Kim A Staats (KA)

Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Justin K Ichida (JK)

Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Biology, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Leonard Petrucelli (L)

Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, USA.

Kendall Van Keuren-Jensen (K)

Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, USA.

Rita Sattler (R)

Department of Neurobiology, Barrow Neurological Institute, 350 W Thomas Road, Phoenix, AZ, 85013, USA. Rita.Sattler@Dignityhealth.org.

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Classifications MeSH

questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Hydrolases › Aminohydrolases › Nucleoside deaminases › Adenosine deaminase › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Eucaryotes › Animaux › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Régulateurs des protéines G › Facteurs d'échange de nucléotides guanyliques › Protéine C9orf72 › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Phénomènes génétiques › Mutagenèse › Expansion de séquence répétée de l'ADN › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Troubles mentaux › Troubles neurocognitifs › Démence › Dégénérescence lobaire frontotemporale › Démence frontotemporale › Démence de Pick › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Phénomènes génétiques › Régulation de l'expression des gènes › Maturation post-transcriptionnelle des ARN › Édition des ARN › ADAR2 mislocalization and widespread RNA...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › ADAR2 mislocalization and widespread RNA...