244 related articles for article (PubMed ID: 22155564)
1. Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease.
Gentil BJ; Minotti S; Beange M; Baloh RH; Julien JP; Durham HD
FASEB J; 2012 Mar; 26(3):1194-203. PubMed ID: 22155564
[TBL] [Abstract][Full Text] [Related]
2. Mitochondrial and axonal abnormalities precede disruption of the neurofilament network in a model of charcot-marie-tooth disease type 2E and are prevented by heat shock proteins in a mutant-specific fashion.
Tradewell ML; Durham HD; Mushynski WE; Gentil BJ
J Neuropathol Exp Neurol; 2009 Jun; 68(6):642-52. PubMed ID: 19458545
[TBL] [Abstract][Full Text] [Related]
3. Disruption of neurofilament network with aggregation of light neurofilament protein: a common pathway leading to motor neuron degeneration due to Charcot-Marie-Tooth disease-linked mutations in NFL and HSPB1.
Zhai J; Lin H; Julien JP; Schlaepfer WW
Hum Mol Genet; 2007 Dec; 16(24):3103-16. PubMed ID: 17881652
[TBL] [Abstract][Full Text] [Related]
4. Heterogeneity in the properties of NEFL mutants causing Charcot-Marie-Tooth disease results in differential effects on neurofilament assembly and susceptibility to intervention by the chaperone-inducer, celastrol.
Gentil BJ; Mushynski WE; Durham HD
Int J Biochem Cell Biol; 2013 Jul; 45(7):1499-508. PubMed ID: 23618875
[TBL] [Abstract][Full Text] [Related]
5. Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.
Adebola AA; Di Castri T; He CZ; Salvatierra LA; Zhao J; Brown K; Lin CS; Worman HJ; Liem RK
Hum Mol Genet; 2015 Apr; 24(8):2163-74. PubMed ID: 25552649
[TBL] [Abstract][Full Text] [Related]
6. Is a novel I214M substitution in the NEFL gene a cause of Charcot-Marie-Tooth disease? Functional analysis using cell culture models.
Kabzińska D; Perez-Olle R; Goryunov D; Drac H; Ryniewicz B; Hausmanowa-Petrusewicz I; Kochański A; Liem RK
J Peripher Nerv Syst; 2006 Sep; 11(3):225-31. PubMed ID: 16930284
[TBL] [Abstract][Full Text] [Related]
7. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.
Perez-Olle R; Jones ST; Liem RK
Hum Mol Genet; 2004 Oct; 13(19):2207-20. PubMed ID: 15282209
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Charcot-Marie-Tooth disease Type 2E/1F mutant neurofilament proteins assemble into neurofilaments.
Stone EJ; Uchida A; Brown A
Cytoskeleton (Hoboken); 2019 Jul; 76(7-8):423-439. PubMed ID: 31574566
[TBL] [Abstract][Full Text] [Related]
10. Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation.
Perez-Olle R; Leung CL; Liem RK
J Cell Sci; 2002 Dec; 115(Pt 24):4937-46. PubMed ID: 12432080
[TBL] [Abstract][Full Text] [Related]
11. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
12. Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport.
Pérez-Ollé R; López-Toledano MA; Goryunov D; Cabrera-Poch N; Stefanis L; Brown K; Liem RK
J Neurochem; 2005 May; 93(4):861-74. PubMed ID: 15857389
[TBL] [Abstract][Full Text] [Related]
13. Role of mitofusin 2 mutations in the physiopathology of Charcot-Marie-Tooth disease type 2A.
Cartoni R; Martinou JC
Exp Neurol; 2009 Aug; 218(2):268-73. PubMed ID: 19427854
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Abnormal neurofilament inclusions and segregations in dorsal root ganglia of a Charcot-Marie-Tooth type 2E mouse model.
Zhao J; Brown K; Liem RKH
PLoS One; 2017; 12(6):e0180038. PubMed ID: 28654681
[TBL] [Abstract][Full Text] [Related]
16. Dynamin 2 mutations in Charcot-Marie-Tooth neuropathy highlight the importance of clathrin-mediated endocytosis in myelination.
Sidiropoulos PN; Miehe M; Bock T; Tinelli E; Oertli CI; Kuner R; Meijer D; Wollscheid B; Niemann A; Suter U
Brain; 2012 May; 135(Pt 5):1395-411. PubMed ID: 22451505
[TBL] [Abstract][Full Text] [Related]
17. 14-3-3 proteins interact with neurofilament protein-L and regulate dynamic assembly of neurofilaments.
Miao L; Teng J; Lin J; Liao X; Chen J
J Cell Sci; 2013 Jan; 126(Pt 2):427-36. PubMed ID: 23230147
[TBL] [Abstract][Full Text] [Related]
18. Sensorimotor and cognitive function of a NEFL(P22S) mutant model of Charcot-Marie-Tooth disease type 2E.
Filali M; Dequen F; Lalonde R; Julien JP
Behav Brain Res; 2011 Jun; 219(2):175-80. PubMed ID: 21168446
[TBL] [Abstract][Full Text] [Related]
19. Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype.
Abe A; Numakura C; Saito K; Koide H; Oka N; Honma A; Kishikawa Y; Hayasaka K
J Hum Genet; 2009 Feb; 54(2):94-7. PubMed ID: 19158810
[TBL] [Abstract][Full Text] [Related]
20. Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.
Cartoni R; Arnaud E; Médard JJ; Poirot O; Courvoisier DS; Chrast R; Martinou JC
Brain; 2010 May; 133(Pt 5):1460-9. PubMed ID: 20418531
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
