Concomitant gain and loss of function pathomechanisms in C9ORF72 amyotrophic lateral sclerosis.

Amyotrophic Lateral Sclerosis / genetics Apoptosis Axons / metabolism C9orf72 Protein / genetics Cells, Cultured Cellular Senescence Cytoskeleton / metabolism DNA Breaks, Double-Stranded DNA-Binding Proteins / genetics Energy Metabolism Gain of Function Mutation Humans Loss of Function Mutation Microscopy, Fluorescence Motor Neurons / metabolism Organelles / metabolism RNA-Binding Protein FUS / genetics Repetitive Sequences, Nucleic Acid

Journal

Life science alliance
ISSN: 2575-1077
Titre abrégé: Life Sci Alliance
Pays: United States
ID NLM: 101728869

Informations de publication

Date de publication:
04 2021
Historique:
received: 04 05 2020
revised: 26 01 2021
accepted: 27 01 2021
entrez: 23 2 2021
pubmed: 24 2 2021
medline: 31 8 2021
Statut: epublish

Résumé

Intronic hexanucleotide repeat expansions (HREs) in

Identifiants

DOI: 10.26508/lsa.202000764 PMID: 33619157 PMC: PMC7918691
pubmed: 33619157
pii: 4/4/e202000764
doi: 10.26508/lsa.202000764
pmc: PMC7918691
pii:
doi:

Substances chimiques

C9orf72 Protein 0
DNA-Binding Proteins 0
FUS protein, human 0
RNA-Binding Protein FUS 0
TARDBP protein, human 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2021 Pal et al.

Références

Acta Neuropathol Commun. 2016 Apr 14;4(1):37
pubmed: 27079381
Science. 2015 Jun 5;348(6239):1151-4
pubmed: 25977373
BMC Bioinformatics. 2006 Nov 06;7:488
pubmed: 17087821
Chem Biol. 2011 Jun 24;18(6):743-51
pubmed: 21700210
EMBO J. 2012 Nov 14;31(22):4258-75
pubmed: 22968170
Hum Mol Genet. 2014 Jul 1;23(13):3579-95
pubmed: 24549040
Nucleic Acids Res. 2019 Jan 8;47(D1):D607-D613
pubmed: 30476243
Nature. 1999 Dec 2;402(6761 Suppl):C47-52
pubmed: 10591225
Stem Cell Res. 2018 Jul;30:150-162
pubmed: 29929116
Curr Opin Genet Dev. 2017 Jun;44:117-124
pubmed: 28319737
Science. 2006 Oct 6;314(5796):130-3
pubmed: 17023659
Prog Neurobiol. 1998 Aug;55(6):577-94
pubmed: 9670219
J Neuropathol Exp Neurol. 2011 May;70(5):349-59
pubmed: 21487309
Neuron. 2014 Jul 16;83(2):266-282
pubmed: 25033177
Chem Biol. 2010 May 28;17(5):421-33
pubmed: 20534341
Neuron. 2015 Dec 2;88(5):892-901
pubmed: 26637796
Biochim Biophys Acta. 2013 Dec;1833(12):3093-3103
pubmed: 23999236
Development. 2013 Dec;140(24):4982-7
pubmed: 24257628
Neuron. 2014 Feb 5;81(3):463-5
pubmed: 24507183
Acta Neuropathol Commun. 2018 Aug 3;6(1):72
pubmed: 30075745
Acta Neuropathol. 2015 Sep;130(3):363-72
pubmed: 26022924
Nat Med. 2018 Mar;24(3):313-325
pubmed: 29400714
Lancet Neurol. 2012 Apr;11(4):323-30
pubmed: 22406228
J Med Genet. 2012 Apr;49(4):258-63
pubmed: 22499346
Genome Biol. 2014;15(12):550
pubmed: 25516281
Hum Mol Genet. 2017 Nov 1;26(21):4142-4152
pubmed: 28973294
Nucleic Acids Res. 2014 Jan;42(1):307-14
pubmed: 24049082
PLoS Genet. 2014 Sep 18;10(9):e1004630
pubmed: 25233079
Neuron. 2016 May 4;90(3):535-50
pubmed: 27112497
Cold Spring Harb Perspect Med. 2018 Apr 2;8(4):
pubmed: 28130314
Neuromolecular Med. 2018 Mar;20(1):18-36
pubmed: 29423895
Neurobiol Aging. 2014 Jul;35(7):1779.e5-1779.e13
pubmed: 24559645
Nat Commun. 2019 Jul 2;10(1):2906
pubmed: 31266945
Nat Neurosci. 2016 Dec;19(12):1610-1618
pubmed: 27723745
Sci Data. 2018 Nov 13;5:180241
pubmed: 30422121
Neuron. 2013 Oct 16;80(2):415-28
pubmed: 24139042
Proc Natl Acad Sci U S A. 2011 Jan 4;108(1):260-5
pubmed: 21173221
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Ann Neurol. 2009 Jan;65 Suppl 1:S3-9
pubmed: 19191304
Curr Opin Cell Biol. 2008 Aug;20(4):445-53
pubmed: 18495455
Neurotherapeutics. 2015 Apr;12(2):352-63
pubmed: 25652699
J Neurosci. 2000 Apr 1;20(7):2534-42
pubmed: 10729333
Nat Protoc. 2015 Jun;10(6):823-44
pubmed: 25950236
Exp Neurol. 2004 Feb;185(2):232-40
pubmed: 14736504
Nucleic Acids Res. 2013 Jan;41(Database issue):D991-5
pubmed: 23193258
PLoS One. 2013;8(3):e59252
pubmed: 23533608
Lancet Neurol. 2018 Jan;17(1):94-102
pubmed: 29154141
Neurobiol Dis. 2018 Jul;115:167-181
pubmed: 29630989
Trends Genet. 2018 Jun;34(6):404-423
pubmed: 29605155
Nat Rev Neurosci. 2011 Nov 30;13(1):38-50
pubmed: 22127299
Lancet Neurol. 2010 Oct;9(10):995-1007
pubmed: 20864052
Nat Rev Neurol. 2011 Nov;7(11):616-30
pubmed: 22051914
Hum Mol Genet. 2013 Oct 15;22(R1):R45-51
pubmed: 23918658
Neurol Res Int. 2012;2012:498428
pubmed: 22852081
Int J Mol Sci. 2020 Mar 05;21(5):
pubmed: 32151030
Nat Neurosci. 2019 Sep;22(9):1383-1388
pubmed: 31358992
Stem Cell Reports. 2020 Mar 10;14(3):390-405
pubmed: 32084385
Science. 2016 Mar 18;351(6279):1324-9
pubmed: 26989253
Autophagy. 2019 Oct;15(10):1719-1737
pubmed: 30939964
Acta Neuropathol. 2020 Jan;139(1):99-118
pubmed: 31642962
J Mol Neurosci. 2011 Mar;43(3):470-7
pubmed: 21057983
Nat Neurosci. 2013 Oct;16(10):1383-91
pubmed: 24036913
Nat Commun. 2018 Jan 23;9(1):335
pubmed: 29362359
Cell Stress Chaperones. 2020 Jan;25(1):173-191
pubmed: 31900865
Nat Neurosci. 2017 Sep;20(9):1225-1235
pubmed: 28714954

Auteurs

Arun Pal (A)

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.

Benedikt Kretner (B)

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.
Center for Regenerative Therapies TU Dresden (CRTD), Technische Universität Dresden, Dresden, Germany.

Masin Abo-Rady (M)

Center for Regenerative Therapies TU Dresden (CRTD), Technische Universität Dresden, Dresden, Germany.

Hannes Glaβ (H)

Translational Neurodegeneration Section "Albrecht-Kossel," Department of Neurology, and Center for Transdisciplinary Neuroscience (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.

Banaja P Dash (BP)

Translational Neurodegeneration Section "Albrecht-Kossel," Department of Neurology, and Center for Transdisciplinary Neuroscience (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.
ORCID: 0000-0003-4580-139X

Marcel Naumann (M)

Translational Neurodegeneration Section "Albrecht-Kossel," Department of Neurology, and Center for Transdisciplinary Neuroscience (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany.

Julia Japtok (J)

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.

Nicole Kreiter (N)

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.

Ashutosh Dhingra (A)

German Center for Neurodegenerative Diseases (DZNE), Genome Biology of Neurodegenerative Diseases, Tübingen, Germany.

Peter Heutink (P)

German Center for Neurodegenerative Diseases (DZNE), Genome Biology of Neurodegenerative Diseases, Tübingen, Germany.
Department for Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Tobias M Böckers (TM)

Institute for Anatomy and Cell Biology, Ulm University, Ulm, Germany.

René Günther (R)

Division of Neurodegenerative Diseases, Department of Neurology, Technische Universität Dresden, Dresden, Germany.
German Center for Neurodegenerative Diseases (DZNE) Dresden, Dresden, Germany.

Jared Sterneckert (J)

Center for Regenerative Therapies TU Dresden (CRTD), Technische Universität Dresden, Dresden, Germany.
ORCID: 0000-0002-7688-3124

Andreas Hermann (A)

Translational Neurodegeneration Section "Albrecht-Kossel," Department of Neurology, and Center for Transdisciplinary Neuroscience (CTNR), University Medical Center Rostock, University of Rostock, Rostock, Germany Andreas.Hermann@med.uni-rostock.de.
German Center for Neurodegenerative Diseases (DZNE) Rostock/Greifswald, Rostock, Germany.
ORCID: 0000-0002-7364-7791

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Classifications MeSH

questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Troubles de l'homéostasie des protéines › Protéinopathies TDP-43 › Sclérose latérale amyotrophique › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Mort cellulaire › Mort cellulaire régulée › Apoptose › Concomitant gain and loss of function...
questionsmedicales.fr › Cellules › Neurones › Neurofibres › Axones › Concomitant gain and loss of function...
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 › Concomitant gain and loss of function...
questionsmedicales.fr › Cellules › Cellules cultivées › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes physiologiques › Croissance et développement › Vieillissement › Vieillissement de la cellule › Concomitant gain and loss of function...
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Cytosquelette › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes génétiques › Altération de l'ADN › Cassures de l'ADN › Cassures double-brin de l'ADN › Concomitant gain and loss of function...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines de liaison à l'ADN › Concomitant gain and loss of function...
questionsmedicales.fr › Métabolisme › Métabolisme énergétique › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › Concomitant gain and loss of function...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Concomitant gain and loss of function...
questionsmedicales.fr › Techniques d'investigation › Microscopie de fluorescence › Concomitant gain and loss of function...
questionsmedicales.fr › Cellules › Neurones › Neurones efférents › Motoneurones › Concomitant gain and loss of function...
questionsmedicales.fr › Cellules › Structures cellulaires › Espace intracellulaire › Cytoplasme › Structures cytoplasmiques › Organites › Concomitant gain and loss of function...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Nucléoprotéines › Protéines de liaison à l'ARN › Protéines à motif de reconnaissance de l'ARN › Ribonucléoprotéines nucléaires hétérogènes › Protéine FUS de liaison à l'ARN › Concomitant gain and loss of function...
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Séquences répétées d'acides nucléiques › Concomitant gain and loss of function...