Amyotrophic Lateral Sclerosis
/ pathology
C9orf72 Protein
/ metabolism
Cell Differentiation
Cell Line
DNA-Binding Proteins
/ metabolism
Gene Expression Regulation
Haploinsufficiency
/ genetics
Humans
Induced Pluripotent Stem Cells
/ metabolism
Mitochondria
/ metabolism
Muscle Fibers, Skeletal
/ metabolism
Oxidative Stress
Protein Aggregates
RNA
/ metabolism
Amyotrophic lateral sclerosis
Skeletal muscle
TDP-43
iPSCs
Journal
Disease models & mechanisms
ISSN: 1754-8411
Titre abrégé: Dis Model Mech
Pays: England
ID NLM: 101483332
Informations de publication
Date de publication:
16 08 2019
16 08 2019
Historique:
received:
11
03
2019
accepted:
10
07
2019
entrez:
24
8
2019
pubmed:
24
8
2019
medline:
9
4
2020
Statut:
epublish
Résumé
Amyotrophic lateral sclerosis (ALS) is a late-onset neuromuscular disease with no cure and limited treatment options. Patients experience a gradual paralysis leading to death from respiratory complications on average only 2-5 years after diagnosis. There is increasing evidence that skeletal muscle is affected early in the disease process, yet the pathological processes occurring in the skeletal muscle of ALS patients are still mostly unknown. Specifically, the most common genetic cause of ALS, a hexanucleotide repeat expansion in the
Identifiants
pubmed: 31439573
pii: 12/8/dmm039552
doi: 10.1242/dmm.039552
pmc: PMC6737948
pii:
doi:
Substances chimiques
C9orf72 Protein
0
DNA-Binding Proteins
0
Protein Aggregates
0
TARDBP protein, human
0
RNA
63231-63-0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NINDS NIH HHS
ID : R01 NS091540
Pays : United States
Informations de copyright
© 2019. Published by The Company of Biologists Ltd.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no competing or financial interests.
Références
EMBO J. 2016 Jun 15;35(12):1276-97
pubmed: 27103069
Biochem Biophys Res Commun. 2017 Feb 19;483(4):1187-1193
pubmed: 27416757
Nat Med. 2018 Mar;24(3):313-325
pubmed: 29400714
Cell Rep. 2013 Dec 12;5(5):1178-86
pubmed: 24290757
Ann Neurol. 2011 Dec;70(6):913-9
pubmed: 21842496
Nat Neurosci. 2019 Jun;22(6):851-862
pubmed: 31086314
Science. 2016 Mar 18;351(6279):1324-9
pubmed: 26989253
Sci Transl Med. 2016 Jul 13;8(347):347ra93
pubmed: 27412785
Front Neurosci. 2014 Aug 14;8:252
pubmed: 25177267
Neuron. 2011 Oct 20;72(2):257-68
pubmed: 21944779
Sci Adv. 2016 Sep 02;2(9):e1601167
pubmed: 27617292
PLoS One. 2013 Aug 13;8(8):e71793
pubmed: 23967244
Stem Cell Res. 2016 Jul;17(1):140-7
pubmed: 27318155
Apoptosis. 2007 May;12(5):913-22
pubmed: 17453160
Mol Neurobiol. 2018 Apr;55(4):3143-3151
pubmed: 28466273
Neuron. 2016 Oct 19;92(2):383-391
pubmed: 27720481
Mol Neurobiol. 2014 Apr;49(2):984-90
pubmed: 24198230
Brain. 2014 Jul;137(Pt 7):2040-51
pubmed: 24866055
Stem Cells Int. 2018 Apr 11;2018:6241681
pubmed: 29760730
Neural Plast. 2018 Apr 11;2018:8413496
pubmed: 29755516
J Neurochem. 2008 Jan;104(2):298-305
pubmed: 17961149
Mol Biol Cell. 2016 Oct 15;27(20):3040-3051
pubmed: 27559131
Nat Commun. 2017 Jul 19;8(1):82
pubmed: 28724966
PLoS One. 2012;7(11):e48581
pubmed: 23144905
Sci Rep. 2018 Nov 8;8(1):16582
pubmed: 30410094
Int J Mol Sci. 2017 Oct 03;18(10):
pubmed: 28972545
Science. 1998 Nov 6;282(5391):1145-7
pubmed: 9804556
Curr Opin Genet Dev. 2017 Jun;44:92-101
pubmed: 28364657
EMBO J. 2016 Aug 1;35(15):1656-76
pubmed: 27334615
FEBS J. 2011 Oct;278(19):3539-49
pubmed: 21777387
J Neuropathol Exp Neurol. 2009 Mar;68(3):262-73
pubmed: 19225410
Development. 2017 Jun 15;144(12):2104-2122
pubmed: 28634270
Acta Neuropathol Commun. 2018 Apr 13;6(1):28
pubmed: 29653597
Small GTPases. 2018 Sep 3;9(5):399-408
pubmed: 27768524
Acta Neuropathol. 2013 Sep;126(3):385-99
pubmed: 23836290
Neuron. 2016 May 4;90(3):521-34
pubmed: 27112499
Bioinformatics. 2013 Feb 15;29(4):499-503
pubmed: 23329412
Nat Methods. 2006 Aug;3(8):637-46
pubmed: 16862139
Rev Neurol (Paris). 2017 May;173(5):254-262
pubmed: 28449881
Muscle Nerve. 2014 Sep;50(3):454-5
pubmed: 24817207
Brain Pathol. 2016 Mar;26(2):227-36
pubmed: 26780251
Arch Neurol. 2007 Oct;64(10):1388-94
pubmed: 17923623
Trends Cell Biol. 2000 Jan;10(1):25-31
pubmed: 10603473
Neuron. 2011 Oct 20;72(2):245-56
pubmed: 21944778
Stem Cell Res. 2013 May;10(3):417-427
pubmed: 23474892
Nat Biotechnol. 2006 Feb;24(2):185-7
pubmed: 16388305
Hum Mol Genet. 2017 Dec 15;26(24):4916-4928
pubmed: 29036691
Cell Mol Life Sci. 2014 Mar;71(6):999-1015
pubmed: 24100629
Science. 2019 Feb 15;363(6428):
pubmed: 30765536
Exp Neurol. 2004 Feb;185(2):232-40
pubmed: 14736504
Curr Neuropharmacol. 2018;16(1):97-116
pubmed: 28554311
Biochem Soc Trans. 2018 Aug 20;46(4):829-842
pubmed: 29986938
Hum Mol Genet. 2014 Jul 1;23(13):3579-95
pubmed: 24549040
Free Radic Biol Med. 2010 Apr 1;48(7):915-23
pubmed: 20079427
Elife. 2016 Sep 13;5:
pubmed: 27623008
Front Mol Neurosci. 2017 Feb 13;10:35
pubmed: 28243191
Neurol Res Int. 2012;2012:379657
pubmed: 22919482
Stem Cells Transl Med. 2014 May;3(5):564-74
pubmed: 24657962
Neural Regen Res. 2017 Jul;12(7):1052-1061
pubmed: 28852382
Muscle Nerve. 2009 Jul;40(1):19-31
pubmed: 19533646
Nat Rev Neurol. 2011 Nov;7(11):616-30
pubmed: 22051914
JCI Insight. 2018 Oct 4;3(19):
pubmed: 30282815
N Engl J Med. 2017 Oct 19;377(16):1602
pubmed: 29045202
Stem Cells Transl Med. 2016 Nov;5(11):1461-1472
pubmed: 27369896
PLoS One. 2015 May 27;10(5):e0127376
pubmed: 26016851
Differentiation. 2017 Jul - Aug;96:70-81
pubmed: 28915407
Acta Neuropathol. 2016 Jul;132(1):145-7
pubmed: 27206760
Nat Neurosci. 2018 Feb;21(2):228-239
pubmed: 29311743
Lancet Neurol. 2015 Mar;14(3):291-301
pubmed: 25638642
Trends Neurosci. 2014 Aug;37(8):433-42
pubmed: 24927875
Science. 2006 Oct 6;314(5796):130-3
pubmed: 17023659
Stem Cells Int. 2017;2017:1376151
pubmed: 28529527
J Neurochem. 2018 Feb 27;:
pubmed: 29486049
Front Genet. 2012 Dec 13;3:283
pubmed: 23248642