212 related articles for article (PubMed ID: 38007410)
1. Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A.
Rizzo F; Bono S; Ruepp MD; Salani S; Ottoboni L; Abati E; Melzi V; Cordiglieri C; Pagliarani S; De Gioia R; Anastasia A; Taiana M; Garbellini M; Lodato S; Kunderfranco P; Cazzato D; Cartelli D; Lonati C; Bresolin N; Comi G; Nizzardo M; Corti S
Cell Mol Life Sci; 2023 Nov; 80(12):373. PubMed ID: 38007410
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial Dysfunction and Pharmacodynamics of Mitofusin Activation in Murine Charcot-Marie-Tooth Disease Type 2A.
Franco A; Dang X; Zhang L; Molinoff PB; Dorn GW
J Pharmacol Exp Ther; 2022 Nov; 383(2):137-148. PubMed ID: 36507849
[TBL] [Abstract][Full Text] [Related]
3. Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons.
Rizzo F; Ronchi D; Salani S; Nizzardo M; Fortunato F; Bordoni A; Stuppia G; Del Bo R; Piga D; Fato R; Bresolin N; Comi GP; Corti S
Hum Mol Genet; 2016 Oct; 25(19):4266-4281. PubMed ID: 27506976
[TBL] [Abstract][Full Text] [Related]
4. Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.
Franco A; Dang X; Walton EK; Ho JN; Zablocka B; Ly C; Miller TM; Baloh RH; Shy ME; Yoo AS; Dorn GW
Elife; 2020 Oct; 9():. PubMed ID: 33074106
[TBL] [Abstract][Full Text] [Related]
5. A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A; Li J; Kelly DP; Hershberger RE; Marian AJ; Lewis RM; Song M; Dang X; Schmidt AD; Mathyer ME; Edwards JR; Strong CG; Dorn GW
Elife; 2023 Nov; 12():. PubMed ID: 37910431
[TBL] [Abstract][Full Text] [Related]
6. Mitofusin 1 overexpression rescues the abnormal mitochondrial dynamics caused by the Mitofusin 2 K357T mutation in vitro.
Stavropoulos F; Georgiou E; Schiza N; Bell S; Baloh RH; Kleopa KA; Sargiannidou I
J Peripher Nerv Syst; 2023 Sep; 28(3):329-340. PubMed ID: 37220142
[TBL] [Abstract][Full Text] [Related]
7. Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.
Amiott EA; Lott P; Soto J; Kang PB; McCaffery JM; DiMauro S; Abel ED; Flanigan KM; Lawson VH; Shaw JM
Exp Neurol; 2008 May; 211(1):115-27. PubMed ID: 18316077
[TBL] [Abstract][Full Text] [Related]
8. Charcot-Marie-Tooth type 2A in vivo models: Current updates.
Abati E; Rizzuti M; Anastasia A; Comi GP; Corti S; Rizzo F
J Cell Mol Med; 2024 May; 28(9):e18293. PubMed ID: 38722298
[TBL] [Abstract][Full Text] [Related]
9. A mutation associated with CMT2A neuropathy causes defects in Fzo1 GTP hydrolysis, ubiquitylation, and protein turnover.
Amiott EA; Cohen MM; Saint-Georges Y; Weissman AM; Shaw JM
Mol Biol Cell; 2009 Dec; 20(23):5026-35. PubMed ID: 19812251
[TBL] [Abstract][Full Text] [Related]
10. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.
Lv H; Wang L; Zhang W; Wang Z; Zuo Y; Liu J; Yuan Y
J Neurol Sci; 2015 Nov; 358(1-2):153-7. PubMed ID: 26382835
[TBL] [Abstract][Full Text] [Related]
11. Restoring mitofusin balance prevents axonal degeneration in a Charcot-Marie-Tooth type 2A model.
Zhou Y; Carmona S; Muhammad AKMG; Bell S; Landeros J; Vazquez M; Ho R; Franco A; Lu B; Dorn GW; Wang S; Lutz CM; Baloh RH
J Clin Invest; 2019 Mar; 129(4):1756-1771. PubMed ID: 30882371
[TBL] [Abstract][Full Text] [Related]
12. MFN2-related neuropathies: Clinical features, molecular pathogenesis and therapeutic perspectives.
Stuppia G; Rizzo F; Riboldi G; Del Bo R; Nizzardo M; Simone C; Comi GP; Bresolin N; Corti S
J Neurol Sci; 2015 Sep; 356(1-2):7-18. PubMed ID: 26143526
[TBL] [Abstract][Full Text] [Related]
13. Early onset Charcot-Marie-Tooth neuropathy type 2A and severe developmental delay: expanding the clinical phenotype of MFN2-related neuropathy.
Tufano M; Cappuccio G; Terrone G; Manganelli F; Pisciotta C; Geroldi A; Capponi S; Del Giudice E
J Peripher Nerv Syst; 2015 Dec; 20(4):415-8. PubMed ID: 26307494
[TBL] [Abstract][Full Text] [Related]
14. Bioenergetic defect associated with mKATP channel opening in a mouse model carrying a mitofusin 2 mutation.
Guillet V; Gueguen N; Cartoni R; Chevrollier A; Desquiret V; Angebault C; Amati-Bonneau P; Procaccio V; Bonneau D; Martinou JC; Reynier P
FASEB J; 2011 May; 25(5):1618-27. PubMed ID: 21285398
[TBL] [Abstract][Full Text] [Related]
15. A late-onset and mild form of Charcot-Marie-Tooth disease type 2 caused by a novel splice-site mutation within the Mitofusin-2 gene.
Kotruchow K; Kabzińska D; Hausmanowa-Petrusewicz I; Kochański A
Acta Myol; 2013 Dec; 32(3):166-9. PubMed ID: 24803844
[TBL] [Abstract][Full Text] [Related]
16. CMT2A-linked MFN2 mutation, T206I promotes mitochondrial hyperfusion and predisposes cells towards mitophagy.
Das R; Maity S; Das P; Kamal IM; Chakrabarti S; Chakrabarti O
Mitochondrion; 2024 Jan; 74():101825. PubMed ID: 38092249
[TBL] [Abstract][Full Text] [Related]
17. Axonal Charcot-Marie-Tooth disease patient-derived motor neurons demonstrate disease-specific phenotypes including abnormal electrophysiological properties.
Saporta MA; Dang V; Volfson D; Zou B; Xie XS; Adebola A; Liem RK; Shy M; Dimos JT
Exp Neurol; 2015 Jan; 263():190-9. PubMed ID: 25448007
[TBL] [Abstract][Full Text] [Related]
18. MFN2 mutations cause severe phenotypes in most patients with CMT2A.
Feely SM; Laura M; Siskind CE; Sottile S; Davis M; Gibbons VS; Reilly MM; Shy ME
Neurology; 2011 May; 76(20):1690-6. PubMed ID: 21508331
[TBL] [Abstract][Full Text] [Related]
19. Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study.
Pipis M; Feely SME; Polke JM; Skorupinska M; Perez L; Shy RR; Laura M; Morrow JM; Moroni I; Pisciotta C; Taroni F; Vujovic D; Lloyd TE; Acsadi G; Yum SW; Lewis RA; Finkel RS; Herrmann DN; Day JW; Li J; Saporta M; Sadjadi R; Walk D; Burns J; Muntoni F; Ramchandren S; Horvath R; Johnson NE; Züchner S; Pareyson D; Scherer SS; Rossor AM; Shy ME; Reilly MM;
Brain; 2020 Dec; 143(12):3589-3602. PubMed ID: 33415332
[TBL] [Abstract][Full Text] [Related]
20. A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients.
Choi BO; Nakhro K; Park HJ; Hyun YS; Lee JH; Kanwal S; Jung SC; Chung KW
Clin Genet; 2015 Jun; 87(6):594-8. PubMed ID: 24863639
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]