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Items: 18

1.

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.

2.

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.

PMID:
23541687
3.

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. Review.

PMID:
23142638
4.

Thin, a Trim32 ortholog, is essential for myofibril stability and is required for the integrity of the costamere in Drosophila.

LaBeau-DiMenna EM, Clark KA, Bauman KD, Parker DS, Cripps RM, Geisbrecht ER.

Proc Natl Acad Sci U S A. 2012 Oct 30;109(44):17983-8. doi: 10.1073/pnas.1208408109.

5.

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.

6.

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.

7.

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.

8.

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.

9.

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
10.

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
11.

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.

12.

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.

PMID:
19303295
13.

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.

14.
15.

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.

PMID:
16243356
16.

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
17.

RING protein Trim32 associated with skin carcinogenesis has anti-apoptotic and E3-ubiquitin ligase properties.

Horn EJ, Albor A, Liu Y, El-Hizawi S, Vanderbeek GE, Babcock M, Bowden GT, Hennings H, Lozano G, Weinberg WC, Kulesz-Martin M.

Carcinogenesis. 2004 Feb;25(2):157-67.

18.

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.

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