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See also: MFN2 (CMT2A) mitofusin 2 in the Gene database

cmt2a in Homo sapiens (2)Mus musculusAll 4 Gene records

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Items: 1 to 20 of 120

1.

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity.

Beręsewicz M, Charzewski Ł, Krzyśko KA, Kochański A, Zabłocka B.

Sci Rep. 2018 Nov 15;8(1):16900. doi: 10.1038/s41598-018-35133-9.

2.

Exome sequencing reveals a novel MFN2 missense mutation in a Chinese family with Charcot-Marie-Tooth type 2A.

You Y, Wang X, Li S, Zhao X, Zhang X.

Exp Ther Med. 2018 Sep;16(3):2281-2286. doi: 10.3892/etm.2018.6513. Epub 2018 Jul 24.

3.

KIF1Bβ mutations detected in hereditary neuropathy impair IGF1R transport and axon growth.

Xu F, Takahashi H, Tanaka Y, Ichinose S, Niwa S, Wicklund MP, Hirokawa N.

J Cell Biol. 2018 Oct 1;217(10):3480-3496. doi: 10.1083/jcb.201801085. Epub 2018 Aug 20.

PMID:
30126838
4.

Mitochondrial hyperfusion causes neuropathy in a fly model of CMT2A.

Ueda E, Ishihara N.

EMBO Rep. 2018 Aug;19(8). pii: e46502. doi: 10.15252/embr.201846502. Epub 2018 Jul 20.

PMID:
30030216
5.

Late-onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum of MFN2-related diseases.

Wu R, Fu J, Meng L, Lv H, Wang Z, Yuan Y.

Neuropathology. 2018 Oct;38(5):463-467. doi: 10.1111/neup.12487. Epub 2018 Jul 16.

PMID:
30011089
6.

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.

EMBO Rep. 2018 Aug;19(8). pii: e45241. doi: 10.15252/embr.201745241. Epub 2018 Jun 13.

PMID:
29898954
7.

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.

Science. 2018 Apr 20;360(6386):336-341. doi: 10.1126/science.aao1785.

8.

Severe cognitive impairment in a patient with CMT2A.

Tomaselli PJ, Kapoor M, Cortese A, Polke JM, Rossor AM, Reilly MM.

J Peripher Nerv Syst. 2018 Jun;23(2):147-148. doi: 10.1111/jns.12260. Epub 2018 Mar 26. No abstract available.

PMID:
29520876
9.

Structural basis for GTP hydrolysis and conformational change of MFN1 in mediating membrane fusion.

Yan L, Qi Y, Huang X, Yu C, Lan L, Guo X, Rao Z, Hu J, Lou Z.

Nat Struct Mol Biol. 2018 Mar;25(3):233-243. doi: 10.1038/s41594-018-0034-8. Epub 2018 Feb 26.

PMID:
29483649
10.

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Iapadre G, Morana G, Vari MS, Pinto F, Lanteri P, Tessa A, Santorelli FM, Striano P, Verrotti A.

Eur J Paediatr Neurol. 2018 May;22(3):563-567. doi: 10.1016/j.ejpn.2017.12.020. Epub 2018 Jan 5.

PMID:
29361379
11.

A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa L, Richardson J, Motley WW, Züchner S, Scherer SS.

J Peripher Nerv Syst. 2018 Mar;23(1):36-39. doi: 10.1111/jns.12248. Epub 2018 Feb 6.

PMID:
29341354
12.

Fifteen-year longitudinal follow-up of a patient with severe early-onset Charcot-Marie-Tooth disease type 2A.

McCray BA, Hurst W, Crawford TO, Lloyd TE.

Muscle Nerve. 2018 May;57(5):E126-E128. doi: 10.1002/mus.26047. Epub 2018 Jan 26. No abstract available.

PMID:
29266326
13.

Charcot-Marie-Tooth disease type 2A with an autosomal-recessive inheritance: the first report of an adult-onset disease.

Hikiami R, Yamashita H, Koita N, Jingami N, Sawamoto N, Furukawa K, Kawai H, Terashima T, Oka N, Hashiguchi A, Takashima H, Urushitani M, Takahashi R.

J Hum Genet. 2018 Jan;63(1):89-92. doi: 10.1038/s10038-017-0353-3. Epub 2017 Nov 13.

PMID:
29215088
14.

Characterization of Charcot-Marie-Tooth optic neuropathy.

Botsford B, Vuong LN, Hedges TR III, Mendoza-Santiesteban CE.

J Neurol. 2017 Dec;264(12):2431-2435. doi: 10.1007/s00415-017-8645-2. Epub 2017 Oct 23.

PMID:
29063243
15.

The Glia-Neuron Lactate Shuttle and Elevated ROS Promote Lipid Synthesis in Neurons and Lipid Droplet Accumulation in Glia via APOE/D.

Liu L, MacKenzie KR, Putluri N, Maletić-Savatić M, Bellen HJ.

Cell Metab. 2017 Nov 7;26(5):719-737.e6. doi: 10.1016/j.cmet.2017.08.024. Epub 2017 Sep 28.

16.

Mitochondrial Dynamics and Proteins Related to Neurodegenerative Diseases.

Alexiou A, Nizami B, Khan FI, Soursou G, Vairaktarakis C, Chatzichronis S, Tsiamis V, Manztavinos V, Yarla NS, Md Ashraf G.

Curr Protein Pept Sci. 2018;19(9):850-857. doi: 10.2174/1389203718666170810150151.

PMID:
28799502
17.

Natural history of Charcot-Marie-Tooth disease during childhood.

Cornett KMD, Menezes MP, Shy RR, Moroni I, Pagliano E, Pareyson D, Estilow T, Yum SW, Bhandari T, Muntoni F, Laura M, Reilly MM, Finkel RS, Eichinger KJ, Herrmann DN, Bray P, Halaki M, Shy ME, Burns J; CMTPedS Study Group.

Ann Neurol. 2017 Sep;82(3):353-359. doi: 10.1002/ana.25009.

PMID:
28796392
18.

The Effect of a Novel c.820C>T (Arg274Trp) Mutation in the Mitofusin 2 Gene on Fibroblast Metabolism and Clinical Manifestation in a Patient.

Beręsewicz M, Boratyńska-Jasińska A, Charzewski Ł, Kawalec M, Kabzińska D, Kochański A, Krzyśko KA, Zabłocka B.

PLoS One. 2017 Jan 11;12(1):e0169999. doi: 10.1371/journal.pone.0169999. eCollection 2017.

19.

Mosaicism for a pathogenic MFN2 mutation causes minimal clinical features of CMT2A in the parent of a severely affected child.

Schon K, Spasic-Boskovic O, Brugger K, Graves TD, Abbs S, Park SM, Ambegaonkar G, Armstrong R.

Neurogenetics. 2017 Jan;18(1):49-55. doi: 10.1007/s10048-016-0504-2. Epub 2017 Jan 6.

20.

Quantitative muscle ultrasound as a biomarker in Charcot-Marie-Tooth neuropathy.

Shahrizaila N, Noto Y, Simon NG, Huynh W, Shibuya K, Matamala JM, Dharmadasa T, Devenney E, Kennerson ML, Nicholson GA, Kiernan MC.

Clin Neurophysiol. 2017 Jan;128(1):227-232. doi: 10.1016/j.clinph.2016.11.010. Epub 2016 Nov 21.

PMID:
27940147

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