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Items: 1 to 20 of 100

1.

Common membrane trafficking defects of disease-associated dynamin 2 mutations.

Liu YW, Lukiyanchuk V, Schmid SL.

Traffic. 2011 Nov;12(11):1620-33. doi: 10.1111/j.1600-0854.2011.01250.x.

2.

Dynamin-2 mutations associated with centronuclear myopathy are hypermorphic and lead to T-tubule fragmentation.

Chin YH, Lee A, Kan HW, Laiman J, Chuang MC, Hsieh ST, Liu YW.

Hum Mol Genet. 2015 Oct 1;24(19):5542-54. doi: 10.1093/hmg/ddv285.

PMID:
26199319
3.

A mutation associated with centronuclear myopathy enhances the size and stability of dynamin 2 complexes in cells.

James NG, Digman MA, Ross JA, Barylko B, Wang L, Li J, Chen Y, Mueller JD, Gratton E, Albanesi JP, Jameson DM.

Biochim Biophys Acta. 2014 Jan;1840(1):315-21. doi: 10.1016/j.bbagen.2013.09.001.

4.

Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy.

Koutsopoulos OS, Koch C, Tosch V, Böhm J, North KN, Laporte J.

PLoS One. 2011;6(11):e27498. doi: 10.1371/journal.pone.0027498.

5.

Isoform and splice-variant specific functions of dynamin-2 revealed by analysis of conditional knock-out cells.

Liu YW, Surka MC, Schroeter T, Lukiyanchuk V, Schmid SL.

Mol Biol Cell. 2008 Dec;19(12):5347-59. doi: 10.1091/mbc.E08-08-0890.

7.

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. doi: 10.1093/brain/aws061.

PMID:
22451505
8.

Dynamin-2 in nervous system disorders.

González-Jamett AM, Haro-Acuña V, Momboisse F, Caviedes P, Bevilacqua JA, Cárdenas AM.

J Neurochem. 2014 Jan;128(2):210-23. doi: 10.1111/jnc.12455. Review.

9.

Dynamin 2 and human diseases.

Durieux AC, Prudhon B, Guicheney P, Bitoun M.

J Mol Med (Berl). 2010 Apr;88(4):339-50. doi: 10.1007/s00109-009-0587-4. Review.

PMID:
20127478
10.

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Durieux AC, Vignaud A, Prudhon B, Viou MT, Beuvin M, Vassilopoulos S, Fraysse B, Ferry A, Lainé J, Romero NB, Guicheney P, Bitoun M.

Hum Mol Genet. 2010 Dec 15;19(24):4820-36. doi: 10.1093/hmg/ddq413.

PMID:
20858595
11.

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis.

Bitoun M, Durieux AC, Prudhon B, Bevilacqua JA, Herledan A, Sakanyan V, Urtizberea A, Cartier L, Romero NB, Guicheney P.

Hum Mutat. 2009 Oct;30(10):1419-27. doi: 10.1002/humu.21086.

PMID:
19623537
12.

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation.

Echaniz-Laguna A, Nicot AS, Carré S, Franques J, Tranchant C, Dondaine N, Biancalana V, Mandel JL, Laporte J.

Neuromuscul Disord. 2007 Dec;17(11-12):955-9.

PMID:
17825552
13.

A centronuclear myopathy--dynamin 2 mutation impairs autophagy in mice.

Durieux AC, Vassilopoulos S, Lainé J, Fraysse B, Briñas L, Prudhon B, Castells J, Freyssenet D, Bonne G, Guicheney P, Bitoun M.

Traffic. 2012 Jun;13(6):869-79. doi: 10.1111/j.1600-0854.2012.01348.x.

14.

Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weakness.

Cowling BS, Toussaint A, Amoasii L, Koebel P, Ferry A, Davignon L, Nishino I, Mandel JL, Laporte J.

Am J Pathol. 2011 May;178(5):2224-35. doi: 10.1016/j.ajpath.2011.01.054.

15.

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant.

Tanabe K, Takei K.

J Cell Biol. 2009 Jun 15;185(6):939-48. doi: 10.1083/jcb.200803153.

16.

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Böhm J, Biancalana V, Dechene ET, Bitoun M, Pierson CR, Schaefer E, Karasoy H, Dempsey MA, Klein F, Dondaine N, Kretz C, Haumesser N, Poirson C, Toussaint A, Greenleaf RS, Barger MA, Mahoney LJ, Kang PB, Zanoteli E, Vissing J, Witting N, Echaniz-Laguna A, Wallgren-Pettersson C, Dowling J, Merlini L, Oldfors A, Bomme Ousager L, Melki J, Krause A, Jern C, Oliveira AS, Petit F, Jacquette A, Chaussenot A, Mowat D, Leheup B, Cristofano M, Poza Aldea JJ, Michel F, Furby A, Llona JE, Van Coster R, Bertini E, Urtizberea JA, Drouin-Garraud V, Béroud C, Prudhon B, Bedford M, Mathews K, Erby LA, Smith SA, Roggenbuck J, Crowe CA, Brennan Spitale A, Johal SC, Amato AA, Demmer LA, Jonas J, Darras BT, Bird TD, Laurino M, Welt SI, Trotter C, Guicheney P, Das S, Mandel JL, Beggs AH, Laporte J.

Hum Mutat. 2012 Jun;33(6):949-59. doi: 10.1002/humu.22067.

17.

Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.

Bragato C, Gaudenzi G, Blasevich F, Pavesi G, Maggi L, Giunta M, Cotelli F, Mora M.

Sci Rep. 2016 Feb 4;6:20466. doi: 10.1038/srep20466.

18.

Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Liewluck T, Lovell TL, Bite AV, Engel AG.

Neuromuscul Disord. 2010 Dec;20(12):801-4. doi: 10.1016/j.nmd.2010.07.273.

19.

A novel mutation in the DNM2 gene impairs dynamin 2 localization in skeletal muscle of a patient with late onset centronuclear myopathy.

Kierdaszuk B, Berdynski M, Karolczak J, Redowicz MJ, Zekanowski C, Kaminska AM.

Neuromuscul Disord. 2013 Mar;23(3):219-28. doi: 10.1016/j.nmd.2012.12.007.

PMID:
23374900
20.

Mutations in dynamin 2 cause dominant centronuclear myopathy.

Bitoun M, Maugenre S, Jeannet PY, Lacène E, Ferrer X, Laforêt P, Martin JJ, Laporte J, Lochmüller H, Beggs AH, Fardeau M, Eymard B, Romero NB, Guicheney P.

Nat Genet. 2005 Nov;37(11):1207-9.

PMID:
16227997

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