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Items: 1 to 20 of 192

1.

Massively Parallel Sequencing Detected a Mutation in the MFN2 Gene Missed by Sanger Sequencing Due to a Primer Mismatch on an SNP Site.

Neupauerová J, Grečmalová D, Seeman P, Laššuthová P.

Ann Hum Genet. 2016 May;80(3):182-6. doi: 10.1111/ahg.12151. Epub 2016 Feb 24.

PMID:
26916081
2.

MicroRNA-761 is upregulated in hepatocellular carcinoma and regulates tumorigenesis by targeting Mitofusin-2.

Zhou X, Zhang L, Zheng B, Yan Y, Zhang Y, Xie H, Zhou L, Zheng S, Wang W.

Cancer Sci. 2016 Apr;107(4):424-32. doi: 10.1111/cas.12904. Epub 2016 Mar 30.

3.

Mechanism of Activation-Induced Downregulation of Mitofusin 2 in Human Peripheral Blood T Cells.

Dasgupta A, Chen KH, Munk RB, Sasaki CY, Curtis J, Longo DL, Ghosh P.

J Immunol. 2015 Dec 15;195(12):5780-6. doi: 10.4049/jimmunol.1501023. Epub 2015 Nov 13.

PMID:
26566676
4.

ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A.

Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10.

5.

Complex-I Alteration and Enhanced Mitochondrial Fusion Are Associated With Prostate Cancer Progression.

Philley JV, Kannan A, Qin W, Sauter ER, Ikebe M, Hertweck KL, Troyer DA, Semmes OJ, Dasgupta S.

J Cell Physiol. 2016 Jun;231(6):1364-74. doi: 10.1002/jcp.25240. Epub 2015 Nov 24.

PMID:
26530043
6.

Sporadic hereditary motor and sensory neuropathies: Advances in the diagnosis using next generation sequencing technology.

Fallerini C, Carignani G, Capoccitti G, Federico A, Rufa A, Pinto AM, Rizzo CL, Rossi A, Mari F, Mencarelli MA, Giannini F, Renieri A.

J Neurol Sci. 2015 Dec 15;359(1-2):409-17. doi: 10.1016/j.jns.2015.09.377. Epub 2015 Oct 9.

PMID:
26481167
7.

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

Wang R, He J, Li JJ, Ni W, Wu ZY, Chen WJ, Wang Y.

Clin Chim Acta. 2015 Dec 7;451(Pt B):263-70. doi: 10.1016/j.cca.2015.10.007. Epub 2015 Oct 8.

PMID:
26454100
8.

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 15;358(1-2):153-7. doi: 10.1016/j.jns.2015.08.1528. Epub 2015 Aug 28.

PMID:
26382835
9.

p38 MAP kinase-dependent phosphorylation of the Gp78 E3 ubiquitin ligase controls ER-mitochondria association and mitochondria motility.

Li L, Gao G, Shankar J, Joshi B, Foster LJ, Nabi IR.

Mol Biol Cell. 2015 Nov 1;26(21):3828-40. doi: 10.1091/mbc.E15-02-0120. Epub 2015 Sep 2.

10.

Regulation of mitochondrial morphology and cell cycle by microRNA-214 targeting Mitofusin2.

Bucha S, Mukhopadhyay D, Bhattacharyya NP.

Biochem Biophys Res Commun. 2015 Oct 2;465(4):797-802. doi: 10.1016/j.bbrc.2015.08.090. Epub 2015 Aug 22.

PMID:
26307536
11.

HDAC6 maintains mitochondrial connectivity under hypoxic stress by suppressing MARCH5/MITOL dependent MFN2 degradation.

Kim HJ, Nagano Y, Choi SJ, Park SY, Kim H, Yao TP, Lee JY.

Biochem Biophys Res Commun. 2015 Sep 4;464(4):1235-40. doi: 10.1016/j.bbrc.2015.07.111. Epub 2015 Jul 23.

PMID:
26210454
12.

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.

Abrams AJ, Hufnagel RB, Rebelo A, Zanna C, Patel N, Gonzalez MA, Campeanu IJ, Griffin LB, Groenewald S, Strickland AV, Tao F, Speziani F, Abreu L, Schüle R, Caporali L, La Morgia C, Maresca A, Liguori R, Lodi R, Ahmed ZM, Sund KL, Wang X, Krueger LA, Peng Y, Prada CE, Prows CA, Schorry EK, Antonellis A, Zimmerman HH, Abdul-Rahman OA, Yang Y, Downes SM, Prince J, Fontanesi F, Barrientos A, Németh AH, Carelli V, Huang T, Zuchner S, Dallman JE.

Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.

13.

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 15;356(1-2):7-18. doi: 10.1016/j.jns.2015.05.033. Epub 2015 May 29. Review.

PMID:
26143526
14.

MFN2 deletion of exons 7 and 8: founder mutation in the UK population.

Carr AS, Polke JM, Wilson J, Pelayo-Negro AL, Laura M, Nanji T, Holt J, Vaughan J, Rankin J, Sweeney MG, Blake J, Houlden H, Reilly MM.

J Peripher Nerv Syst. 2015 Jun;20(2):67-71. doi: 10.1111/jns.12117.

PMID:
26114802
15.

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy.

Sawyer SL, Cheuk-Him Ng A, Innes AM, Wagner JD, Dyment DA, Tetreault M; Care4Rare Canada Consortium, Majewski J, Boycott KM, Screaton RA, Nicholson G.

Hum Mol Genet. 2015 Sep 15;24(18):5109-14. doi: 10.1093/hmg/ddv229. Epub 2015 Jun 17.

16.

Distinct mechanisms controlling rough and smooth endoplasmic reticulum contacts with mitochondria.

Wang PT, Garcin PO, Fu M, Masoudi M, St-Pierre P, Panté N, Nabi IR.

J Cell Sci. 2015 Aug 1;128(15):2759-65. doi: 10.1242/jcs.171132. Epub 2015 Jun 11.

17.

Adiponectin affects vascular smooth muscle cell proliferation and apoptosis through modulation of the mitofusin-2-mediated Ras-Raf-Erk1/2 signaling pathway.

Zhang W, Shu C, Li Q, Li M, Li X.

Mol Med Rep. 2015 Sep;12(3):4703-7. doi: 10.3892/mmr.2015.3899. Epub 2015 Jun 8.

PMID:
26059448
18.

Genetic determination of motor neuron disease and neuropathy.

Vrebalov Cindro P, Vrebalov Cindro V.

Coll Antropol. 2015 Mar;39(1):261-5.

PMID:
26040103
19.

Reduction of Mitochondria-Endoplasmic Reticulum Interactions by Acetylcholine Protects Human Umbilical Vein Endothelial Cells From Hypoxia/Reoxygenation Injury.

He X, Bi XY, Lu XZ, Zhao M, Yu XJ, Sun L, Xu M, Wier WG, Zang WJ.

Arterioscler Thromb Vasc Biol. 2015 Jul;35(7):1623-34. doi: 10.1161/ATVBAHA.115.305469. Epub 2015 May 14.

20.

Acute optic neuropathy associated with a novel MFN2 mutation.

Leonardi L, Marcotulli C, Storti E, Tessa A, Serrao M, Parisi V, Santorelli FM, Pierelli F, Casali C.

J Neurol. 2015 Jul;262(7):1678-80. doi: 10.1007/s00415-015-7756-x. Epub 2015 May 10.

PMID:
25957633
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