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Items: 1 to 20 of 95

1.

A novel CRYAB mutation resulting in multisystemic disease.

Sacconi S, Féasson L, Antoine JC, Pécheux C, Bernard R, Cobo AM, Casarin A, Salviati L, Desnuelle C, Urtizberea A.

Neuromuscul Disord. 2012 Jan;22(1):66-72. doi: 10.1016/j.nmd.2011.07.004. Epub 2011 Sep 14.

PMID:
21920752
2.

The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy.

Reilich P, Schoser B, Schramm N, Krause S, Schessl J, Kress W, Müller-Höcker J, Walter MC, Lochmuller H.

Neuromuscul Disord. 2010 Apr;20(4):255-9. doi: 10.1016/j.nmd.2010.01.012. Epub 2010 Feb 19.

PMID:
20171888
3.

Identification of a CRYAB mutation associated with autosomal dominant posterior polar cataract in a Chinese family.

Liu M, Ke T, Wang Z, Yang Q, Chang W, Jiang F, Tang Z, Li H, Ren X, Wang X, Wang T, Li Q, Yang J, Liu J, Wang QK.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3461-6.

PMID:
16877416
4.

Hsp27 suppresses the formation of inclusion bodies induced by expression of R120G alpha B-crystallin, a cause of desmin-related myopathy.

Ito H, Kamei K, Iwamoto I, Inaguma Y, Tsuzuki M, Kishikawa M, Shimada A, Hosokawa M, Kato K.

Cell Mol Life Sci. 2003 Jun;60(6):1217-23.

PMID:
12861387
5.

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

Chen Q, Ma J, Yan M, Mothobi ME, Liu Y, Zheng F.

Mol Vis. 2009 Jul 10;15:1359-65.

6.
7.

Alpha B-crystallin mutation in dilated cardiomyopathy.

Inagaki N, Hayashi T, Arimura T, Koga Y, Takahashi M, Shibata H, Teraoka K, Chikamori T, Yamashina A, Kimura A.

Biochem Biophys Res Commun. 2006 Apr 7;342(2):379-86. Epub 2006 Feb 8.

PMID:
16483541
8.

A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.

Xia XY, Wu QY, An LM, Li WW, Li N, Li TF, Zhang C, Cui YX, Li XJ, Xue CY.

BMC Ophthalmol. 2014 Sep 8;14:108. doi: 10.1186/1471-2415-14-108.

9.

The NADPH metabolic network regulates human αB-crystallin cardiomyopathy and reductive stress in Drosophila melanogaster.

Xie HB, Cammarato A, Rajasekaran NS, Zhang H, Suggs JA, Lin HC, Bernstein SI, Benjamin IJ, Golic KG.

PLoS Genet. 2013 Jun;9(6):e1003544. doi: 10.1371/journal.pgen.1003544. Epub 2013 Jun 20.

10.

Nuclear speckle localisation of the small heat shock protein alpha B-crystallin and its inhibition by the R120G cardiomyopathy-linked mutation.

van den IJssel P, Wheelock R, Prescott A, Russell P, Quinlan RA.

Exp Cell Res. 2003 Jul 15;287(2):249-61.

PMID:
12837281
11.

The Human 343delT HSPB5 Chaperone Associated with Early-onset Skeletal Myopathy Causes Defects in Protein Solubility.

Mitzelfelt KA, Limphong P, Choi MJ, Kondrat FD, Lai S, Kolander KD, Kwok WM, Dai Q, Grzybowski MN, Zhang H, Taylor GM, Lui Q, Thao MT, Hudson JA, Barresi R, Bushby K, Jungbluth H, Wraige E, Geurts AM, Benesch JL, Riedel M, Christians ES, Minella AC, Benjamin IJ.

J Biol Chem. 2016 Jul 15;291(29):14939-53. doi: 10.1074/jbc.M116.730481. Epub 2016 May 19.

12.

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

Vicart P, Caron A, Guicheney P, Li Z, Prévost MC, Faure A, Chateau D, Chapon F, Tomé F, Dupret JM, Paulin D, Fardeau M.

Nat Genet. 1998 Sep;20(1):92-5.

PMID:
9731540
13.

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

Selcen D, Engel AG.

Ann Neurol. 2003 Dec;54(6):804-10.

PMID:
14681890
14.

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients.

Selcen D, Ohno K, Engel AG.

Brain. 2004 Feb;127(Pt 2):439-51. Epub 2004 Jan 7.

PMID:
14711882
15.

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function.

Bova MP, Yaron O, Huang Q, Ding L, Haley DA, Stewart PL, Horwitz J.

Proc Natl Acad Sci U S A. 1999 May 25;96(11):6137-42.

16.

Characterization of a mutant R11H αB-crystallin associated with human inherited cataract.

Chen Q, Yan M, Xiang F, Zhou X, Liu Y, Zheng F.

Biol Chem. 2010 Dec;391(12):1391-400. doi: 10.1515/BC.2010.143.

PMID:
21087083
17.

A novel human CRYGD mutation in a juvenile autosomal dominant cataract.

Roshan M, Vijaya PH, Lavanya GR, Shama PK, Santhiya ST, Graw J, Gopinath PM, Satyamoorthy K.

Mol Vis. 2010 May 22;16:887-96.

18.

Desmin myopathy.

Goldfarb LG, Vicart P, Goebel HH, Dalakas MC.

Brain. 2004 Apr;127(Pt 4):723-34. Epub 2004 Jan 14. Review.

PMID:
14724127
19.
20.

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.

Ruggieri A, Brancati F, Zanotti S, Maggi L, Pasanisi MB, Saredi S, Terracciano C, Antozzi C, D Apice MR, Sangiuolo F, Novelli G, Marshall CR, Scherer SW, Morandi L, Federici L, Massa R, Mora M, Minassian BA.

Acta Neuropathol Commun. 2015 Jul 25;3:44. doi: 10.1186/s40478-015-0224-0.

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