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Items: 1 to 20 of 97

1.

The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ.

Hum Mol Genet. 2011 Oct 15;20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.

2.

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Locke M, Tinsley CL, Benson MA, Blake DJ.

Hum Mol Genet. 2009 Jul 1;18(13):2344-58. doi: 10.1093/hmg/ddp167. Epub 2009 Apr 6.

3.

Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.

Kudryashova E, Wu J, Havton LA, Spencer MJ.

Hum Mol Genet. 2009 Apr 1;18(7):1353-67. doi: 10.1093/hmg/ddp036. Epub 2009 Jan 19.

4.

The interaction of Piasy with Trim32, an E3-ubiquitin ligase mutated in limb-girdle muscular dystrophy type 2H, promotes Piasy degradation and regulates UVB-induced keratinocyte apoptosis through NFkappaB.

Albor A, El-Hizawi S, Horn EJ, Laederich M, Frosk P, Wrogemann K, Kulesz-Martin M.

J Biol Chem. 2006 Sep 1;281(35):25850-66. Epub 2006 Jun 30.

5.

Mutations that impair interaction properties of TRIM32 associated with limb-girdle muscular dystrophy 2H.

Saccone V, Palmieri M, Passamano L, Piluso G, Meroni G, Politano L, Nigro V.

Hum Mutat. 2008 Feb;29(2):240-7.

PMID:
17994549
6.

Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.

Kudryashova E, Kramerova I, Spencer MJ.

J Clin Invest. 2012 May;122(5):1764-76. doi: 10.1172/JCI59581. Epub 2012 Apr 16.

7.

Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.

Borg K, Stucka R, Locke M, Melin E, Ahlberg G, Klutzny U, Hagen Mv, Huebner A, Lochmüller H, Wrogemann K, Thornell LE, Blake DJ, Schoser B.

Hum Mutat. 2009 Sep;30(9):E831-44. doi: 10.1002/humu.21063.

PMID:
19492423
8.

Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin.

Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ.

J Mol Biol. 2005 Nov 25;354(2):413-24. Epub 2005 Oct 10.

PMID:
16243356
9.

Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

Schoser BG, Frosk P, Engel AG, Klutzny U, Lochmüller H, Wrogemann K.

Ann Neurol. 2005 Apr;57(4):591-5.

PMID:
15786463
10.

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL.

Neuromuscul Disord. 2009 Apr;19(4):255-60. doi: 10.1016/j.nmd.2009.02.003. Epub 2009 Mar 19.

PMID:
19303295
11.

Limb-girdle muscular dystrophy 2H and the role of TRIM32.

Shieh PB, Kudryashova E, Spencer MJ.

Handb Clin Neurol. 2011;101:125-33. doi: 10.1016/B978-0-08-045031-5.00009-8. Review.

PMID:
21496629
12.

TRIM32 regulates skeletal muscle stem cell differentiation and is necessary for normal adult muscle regeneration.

Nicklas S, Otto A, Wu X, Miller P, Stelzer S, Wen Y, Kuang S, Wrogemann K, Patel K, Ding H, Schwamborn JC.

PLoS One. 2012;7(1):e30445. doi: 10.1371/journal.pone.0030445. Epub 2012 Jan 27.

13.

Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.

Liewluck T, Tracy JA, Sorenson EJ, Engel AG.

Neuromuscul Disord. 2013 Feb;23(2):133-8. doi: 10.1016/j.nmd.2012.09.010. Epub 2012 Nov 9. Review.

PMID:
23142638
14.

Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

Frosk P, Weiler T, Nylen E, Sudha T, Greenberg CR, Morgan K, Fujiwara TM, Wrogemann K.

Am J Hum Genet. 2002 Mar;70(3):663-72. Epub 2002 Jan 29.

15.

The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.

Mokhonova EI, Avliyakulov NK, Kramerova I, Kudryashova E, Haykinson MJ, Spencer MJ.

Hum Mol Genet. 2015 May 15;24(10):2873-83. doi: 10.1093/hmg/ddv049. Epub 2015 Feb 20.

16.

A patient with limb girdle muscular dystrophy carries a TRIM32 deletion, detected by a novel CGH array, in compound heterozygosis with a nonsense mutation.

Neri M, Selvatici R, Scotton C, Trabanelli C, Armaroli A, De Grandis D, Levy N, Gualandi F, Ferlini A.

Neuromuscul Disord. 2013 Jun;23(6):478-82. doi: 10.1016/j.nmd.2013.02.003. Epub 2013 Mar 28.

PMID:
23541687
17.

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing.

Nectoux J, de Cid R, Baulande S, Leturcq F, Urtizberea JA, Penisson-Besnier I, Nadaj-Pakleza A, Roudaut C, Criqui A, Orhant L, Peyroulan D, Ben Yaou R, Nelson I, Cobo AM, Arné-Bes MC, Uro-Coste E, Nitschke P, Claustres M, Bonne G, Lévy N, Chelly J, Richard I, Cossée M.

Eur J Hum Genet. 2015 Jul;23(7):929-34. doi: 10.1038/ejhg.2014.223. Epub 2014 Oct 29.

18.

TRIM32 promotes neural differentiation through retinoic acid receptor-mediated transcription.

Sato T, Okumura F, Kano S, Kondo T, Ariga T, Hatakeyama S.

J Cell Sci. 2011 Oct 15;124(Pt 20):3492-502. doi: 10.1242/jcs.088799. Epub 2011 Oct 7.

19.

Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I.

Frosk P, Del Bigio MR, Wrogemann K, Greenberg CR.

Eur J Hum Genet. 2005 Aug;13(8):978-82.

20.

The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K.

Hum Mutat. 2005 Jan;25(1):38-44.

PMID:
15580560
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