Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Charcot–Marie–Tooth disease type 2
Gene therapy
Hereditary neuropathies
Mitochondrial diseases
Mitofusin agonists
Mitofusin2
Molecular therapy
Journal
Molecular neurobiology
ISSN: 1559-1182
Titre abrégé: Mol Neurobiol
Pays: United States
ID NLM: 8900963
Informations de publication
Date de publication:
Sep 2019
Sep 2019
Historique:
received:
13
11
2018
accepted:
19
02
2019
pubmed:
5
3
2019
medline:
14
1
2020
entrez:
5
3
2019
Statut:
ppublish
Résumé
Mitofusin 2 (MFN2) is a protein of the mitochondrial outer membrane that belongs to a family of highly conserved dynamin-related GTPases. It is implicated in several intracellular pathways; however, its main role is the regulation of mitochondrial dynamics, in particular mitochondrial fusion. Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide spectrum of clinical features, primarily a motor sensory neuropathy. The cellular and molecular mechanisms by which MFN2 mutations lead to neuronal degeneration are largely unknown, and there is currently no cure for patients. Here, we present the most recent in vitro and in vivo models of CMT2A and the more promising therapeutic approaches under development. These models and therapies may represent relevant tools for the study and recovery of defective mitochondrial dynamics that seem to play a significant role in the pathogenesis of other more common neurodegenerative diseases.
Identifiants
pubmed: 30830587
doi: 10.1007/s12035-019-1533-2
pii: 10.1007/s12035-019-1533-2
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
6460-6471Subventions
Organisme : FP7 People: Marie-Curie Actions
ID : RISE-2017-CROSS NEUROD
Références
J Cell Biol. 2003 Jan 20;160(2):189-200
pubmed: 12527753
Nat Med. 2003 Dec;9(12):1533-7
pubmed: 14608378
Nat Genet. 2004 May;36(5):449-51
pubmed: 15064763
J Neurochem. 2005 Jan;92(2):362-7
pubmed: 15663483
Neurology. 2005 Jul 26;65(2):197-204
pubmed: 16043786
Neurology. 2005 Aug 9;65(3):496-7
pubmed: 16087932
Neurology. 2005 Sep 13;65(5):681-9
pubmed: 16157899
Mol Ther. 2006 Mar;13(3):517-27
pubmed: 16325474
Hum Mol Genet. 2006 Jan 15;15(2):167-87
pubmed: 16339214
Ann Neurol. 2006 Feb;59(2):276-81
pubmed: 16437557
Brain. 2006 Aug;129(Pt 8):2093-102
pubmed: 16714318
Muscle Nerve. 2006 Nov;34(5):586-94
pubmed: 16881064
Cell. 2006 Aug 25;126(4):663-76
pubmed: 16904174
Adv Drug Deliv Rev. 2007 Mar 30;59(2-3):75-86
pubmed: 17449137
Neurology. 2008 May 6;70(19):1678-81
pubmed: 18458227
Cell Immunol. 2008 May-Jun;253(1-2):11-5
pubmed: 18627903
Neurotherapeutics. 2008 Oct;5(4):507-15
pubmed: 19019301
Nat Biotechnol. 2009 Jan;27(1):59-65
pubmed: 19098898
Hum Gene Ther. 2009 Mar;20(3):225-37
pubmed: 19292604
Mol Ther. 2010 Mar;18(3):588-93
pubmed: 20010918
J Neurosci. 2010 Mar 24;30(12):4232-40
pubmed: 20335458
Brain. 2010 May;133(Pt 5):1460-9
pubmed: 20418531
Eur J Neurol. 2011 Jan;18(1):39-48
pubmed: 20482598
Neuromuscul Disord. 2011 Jan;21(1):58-67
pubmed: 20951042
Neurology. 2011 May 17;76(20):1690-6
pubmed: 21508331
Neurology. 2011 Jul 12;77(2):168-73
pubmed: 21715711
J Peripher Nerv Syst. 2011 Sep;16(3):191-8
pubmed: 22003934
J Neurosci. 2012 Mar 21;32(12):4145-55
pubmed: 22442078
Neuropharmacology. 2013 Jun;69:82-8
pubmed: 22465202
Science. 2013 Feb 15;339(6121):819-23
pubmed: 23287718
Cell Stem Cell. 2013 Jun 6;12(6):713-26
pubmed: 23602540
J Vis Exp. 2013 May 12;(75):e50326
pubmed: 23712122
PLoS One. 2013 Jun 26;8(6):e67276
pubmed: 23840650
Mol Ther. 2013 Dec;21(12):2148-59
pubmed: 24008656
Circ Res. 2014 Jan 17;114(2):257-65
pubmed: 24192653
Gene. 2014 Apr 1;538(2):217-27
pubmed: 24406620
Neuromolecular Med. 2014 Sep;16(3):540-50
pubmed: 24819634
Muscle Nerve. 2014 Oct;50(4):467-76
pubmed: 24947478
JAMA Neurol. 2014 Aug;71(8):1036-42
pubmed: 24957169
Stem Cell Reports. 2014 Aug 12;3(2):297-311
pubmed: 25254343
Mol Ther. 2015 Mar;23(3):477-87
pubmed: 25358252
Exp Neurol. 2015 Jan;263:190-9
pubmed: 25448007
J Neurol Sci. 2015 Sep 15;356(1-2):7-18
pubmed: 26143526
J Peripher Nerv Syst. 2015 Dec;20(4):380-6
pubmed: 26306937
Mol Ther Nucleic Acids. 2015 Sep 15;4:e252
pubmed: 26372022
Nat Rev Drug Discov. 2015 Oct;14(10):681-92
pubmed: 26391880
Mol Ther Nucleic Acids. 2015 Nov 17;4:e264
pubmed: 26575098
Sci Adv. 2015 Mar 13;1(2):e1500078
pubmed: 26601156
Cochrane Database Syst Rev. 2015 Dec 11;(12):CD011952
pubmed: 26662471
Neuroepidemiology. 2016;46(3):157-65
pubmed: 26849231
Am J Med Genet A. 2016 Jun;170(6):1580-4
pubmed: 26955893
Hum Mol Genet. 2016 Aug 1;25(15):3152-3163
pubmed: 27270413
Mol Ther Methods Clin Dev. 2016 Jul 13;3:16046
pubmed: 27462649
Hum Mol Genet. 2016 Oct 1;25(19):4266-4281
pubmed: 27506976
Nature. 2016 Dec 1;540(7631):74-79
pubmed: 27775718
JAMA. 2016 Nov 1;316(17):1756
pubmed: 27802526
PLoS One. 2016 Dec 1;11(12):e0167573
pubmed: 27907123
Nat Rev Drug Discov. 2017 Feb;16(2):115-130
pubmed: 27980341
J Neuroimmune Pharmacol. 2017 Mar;12(1):51-83
pubmed: 28160121
Drugs. 2017 Mar;77(4):473-479
pubmed: 28229309
Curr Opin Neurol. 2017 Oct;30(5):471-480
pubmed: 28678038
Ann Neurol. 2017 Sep;82(3):353-359
pubmed: 28796392
J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):941-952
pubmed: 28860329
Molecules. 2017 Oct 14;22(10):null
pubmed: 29036910
Biol Rev Camb Philos Soc. 2018 May;93(2):933-949
pubmed: 29068134
N Engl J Med. 2017 Nov 2;377(18):1713-1722
pubmed: 29091557
Curr Gene Ther. 2017;17(4):309-319
pubmed: 29173170
J Neurosci. 1989 Feb;9(2):625-38
pubmed: 2918381
Cell. 2017 Dec 14;171(7):1495-1507.e15
pubmed: 29224783
Cell Death Dis. 2018 Feb 28;9(3):330
pubmed: 29491355
J Curr Ophthalmol. 2018 Feb 16;30(1):1-2
pubmed: 29564403
Science. 2018 Apr 20;360(6386):336-341
pubmed: 29674596
EMBO Rep. 2018 Aug;19(8):
pubmed: 29898954
Nat Biotechnol. 1998 Nov;16(11):1033-9
pubmed: 9831031