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146 results
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Structural insights of human mitofusin-2 into mitochondrial fusion and CMT2A onset.
Li YJ, Cao YL, Feng JX, Qi Y, Meng S, Yang JF, Zhong YT, Kang S, Chen X, Lan L, Luo L, Yu B, Chen S, Chan DC, Hu J, Gao S. Li YJ, et al. Nat Commun. 2019 Oct 29;10(1):4914. doi: 10.1038/s41467-019-12912-0. Nat Commun. 2019. PMID: 31664033 Free PMC article.
Mutations in MFN2 cause the neurodegenerative disease Charcot-Marie-Tooth type 2A (CMT2A). The molecular basis underlying the physiological and pathological relevance of MFN2 is unclear. ...MFN2 and MFN1 can form heterodimers via the G interface in a nucleotide-dependent m …
Mutations in MFN2 cause the neurodegenerative disease Charcot-Marie-Tooth type 2A (CMT2A). The molecular basis underlying the physiol …
Disease Modeling and Therapeutic Strategies in CMT2A: State of the Art.
Barbullushi K, Abati E, Rizzo F, Bresolin N, Comi GP, Corti S. Barbullushi K, et al. Mol Neurobiol. 2019 Sep;56(9):6460-6471. doi: 10.1007/s12035-019-1533-2. Epub 2019 Mar 4. Mol Neurobiol. 2019. PMID: 30830587 Review.
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. ...Here, we present the most recent in vitro and in vivo models of CMT …
Mutations in MFN2 are associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a wide sp …
Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A.
Ueda E, Ishihara N. Ueda E, et al. EMBO Rep. 2018 Aug;19(8):e46502. doi: 10.15252/embr.201846502. Epub 2018 Jul 20. EMBO Rep. 2018. PMID: 30030216 Free PMC article.
A disruption of these processes can cause severe neurodegeneration. Charcot-Marie-Tooth disease type 2A (CMT2A) is a neuropathy that is caused by mutations in the fusion factor Mfn2. It is generally assumed that impaired mitochondrial fusion causes CMT2A. However, t …
A disruption of these processes can cause severe neurodegeneration. Charcot-Marie-Tooth disease type 2A (CMT2A) is a neuropathy that …
Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy.
El Fissi N, Rojo M, Aouane A, Karatas E, Poliacikova G, David C, Royet J, Rival T. El Fissi N, et al. EMBO Rep. 2018 Aug;19(8):e45241. doi: 10.15252/embr.201745241. Epub 2018 Jun 13. EMBO Rep. 2018. PMID: 29898954 Free PMC article.
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro-fusion factor Mitofusin 2 (MFN2). ...In conclusion, we show that both dominant negative and dominant active forms of mitofusin can cause CMT2A-associated defects and p …
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro-fusion factor Mitofusin 2 (MFN2). …
CMT2A: the name doesn't tell the whole story.
Scherer SS. Scherer SS. Neurology. 2011 May 17;76(20):1686-7. doi: 10.1212/WNL.0b013e31821bcc42. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508332 No abstract available.
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. Feely SM, et al. Neurology. 2011 May 17;76(20):1690-6. doi: 10.1212/WNL.0b013e31821a441e. Epub 2011 Apr 20. Neurology. 2011. PMID: 21508331 Free PMC article.
Most of 27 patients evaluated with CMT2A had an earlier onset and more severe impairment than patients without CMT2A. ...Twenty-three of 27 patients with CMT2A were nonambulatory prior to age 20 whereas just one of 78 non-CMT2A patients was nonambulato …
Most of 27 patients evaluated with CMT2A had an earlier onset and more severe impairment than patients without CMT2A. ...Twent …
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. Amiott EA, et al. Mol Biol Cell. 2009 Dec;20(23):5026-35. doi: 10.1091/mbc.e09-07-0622. Epub 2009 Oct 7. Mol Biol Cell. 2009. PMID: 19812251 Free PMC article.
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the gene MFN2 and is one of the most common inherited peripheral neuropathies. ...It is not known how mitofusin mutations cause axonal degeneration and CMT2A disease. We used the conserved yeast m …
Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by mutations in the gene MFN2 and is one of the most common inherited periphera …
Severe cognitive impairment in a patient with CMT2A.
Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM. Tomaselli PJ, et al. J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26. J Peripher Nerv Syst. 2018. PMID: 29520876 No abstract available.
Animal Models of CMT2A: State-of-art and Therapeutic Implications.
De Gioia R, Citterio G, Abati E, Nizzardo M, Bresolin N, Comi GP, Corti S, Rizzo F. De Gioia R, et al. Mol Neurobiol. 2020 Dec;57(12):5121-5129. doi: 10.1007/s12035-020-02081-3. Epub 2020 Aug 27. Mol Neurobiol. 2020. PMID: 32856204 Free PMC article. Review.
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neuropathy affecting motor and sensory neurons. The cellular and molecular mechanisms by which MFN2 mutations determine neuronal degeneration ar …
Charcot-Marie-Tooth disease type 2A (CMT2A), arising from mitofusin 2 (MFN2) gene mutations, is the most common inherited axonal neur …
MFN2 agonists reverse mitochondrial defects in preclinical models of Charcot-Marie-Tooth disease type 2A.
Rocha AG, Franco A, Krezel AM, Rumsey JM, Alberti JM, Knight WC, Biris N, Zacharioudakis E, Janetka JW, Baloh RH, Kitsis RN, Mochly-Rosen D, Townsend RR, Gavathiotis E, Dorn GW 2nd. Rocha AG, et al. Science. 2018 Apr 20;360(6386):336-341. doi: 10.1126/science.aao1785. Science. 2018. PMID: 29674596 Free PMC article.
These first-in-class mitofusin agonists overcame dominant mitochondrial defects provoked in cultured neurons by CMT2A mutants MFN2 Arg(94)Gln(94) and MFN2 Thr(105)Met(105), as demonstrated by amelioration of mitochondrial dysmotility, fragmentation, depolarization, and clu …
These first-in-class mitofusin agonists overcame dominant mitochondrial defects provoked in cultured neurons by CMT2A mutants MFN2 Ar …
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