Chu ML - Search Results

1

Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant.

Zhang RZ, Zou Y, Pan TC, Markova D, Fertala A, Hu Y, Squarzoni S, Reed UC, Marie SKN, Bönnemann CG, Chu ML. Zhang RZ, et al. Among authors: chu ml. J Biol Chem. 2010 Mar 26;285(13):10005-10015. doi: 10.1074/jbc.M109.093666. Epub 2010 Jan 27. J Biol Chem. 2010. PMID: 20106987 Free PMC article.

2

Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.

Zhang RZ, Sabatelli P, Pan TC, Squarzoni S, Mattioli E, Bertini E, Pepe G, Chu ML. Zhang RZ, et al. Among authors: chu ml. J Biol Chem. 2002 Nov 15;277(46):43557-64. doi: 10.1074/jbc.M207696200. Epub 2002 Sep 5. J Biol Chem. 2002. PMID: 12218063 Free article.

3

New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.

Pan TC, Zhang RZ, Sudano DG, Marie SK, Bönnemann CG, Chu ML. Pan TC, et al. Among authors: chu ml. Am J Hum Genet. 2003 Aug;73(2):355-69. doi: 10.1086/377107. Epub 2003 Jul 1. Am J Hum Genet. 2003. PMID: 12840783 Free PMC article.

4

Muscle interstitial fibroblasts are the main source of collagen VI synthesis in skeletal muscle: implications for congenital muscular dystrophy types Ullrich and Bethlem.

Zou Y, Zhang RZ, Sabatelli P, Chu ML, Bönnemann CG. Zou Y, et al. Among authors: chu ml. J Neuropathol Exp Neurol. 2008 Feb;67(2):144-54. doi: 10.1097/nen.0b013e3181634ef7. J Neuropathol Exp Neurol. 2008. PMID: 18219255

5

COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.

Pan TC, Zhang RZ, Markova D, Arita M, Zhang Y, Bogdanovich S, Khurana TS, Bönnemann CG, Birk DE, Chu ML. Pan TC, et al. Among authors: chu ml. J Biol Chem. 2013 May 17;288(20):14320-14331. doi: 10.1074/jbc.M112.433078. Epub 2013 Apr 5. J Biol Chem. 2013. PMID: 23564457 Free PMC article.

6

A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.

Pan TC, Zhang RZ, Arita M, Bogdanovich S, Adams SM, Gara SK, Wagener R, Khurana TS, Birk DE, Chu ML. Pan TC, et al. Among authors: chu ml. J Biol Chem. 2014 Apr 11;289(15):10293-10307. doi: 10.1074/jbc.M114.549311. Epub 2014 Feb 22. J Biol Chem. 2014. PMID: 24563484 Free PMC article.

7

A homozygous COL6A2 intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy.

Lucarini L, Giusti B, Zhang RZ, Pan TC, Jimenez-Mallebrera C, Mercuri E, Muntoni F, Pepe G, Chu ML. Lucarini L, et al. Among authors: chu ml. Hum Genet. 2005 Sep;117(5):460-6. doi: 10.1007/s00439-005-1318-8. Epub 2005 Jun 17. Hum Genet. 2005. PMID: 16075202

8

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy.

Pepe G, Lucarini L, Zhang RZ, Pan TC, Giusti B, Quijano-Roy S, Gartioux C, Bushby KM, Guicheney P, Chu ML. Pepe G, et al. Among authors: chu ml. Ann Neurol. 2006 Jan;59(1):190-5. doi: 10.1002/ana.20705. Ann Neurol. 2006. PMID: 16278855

9

Tumor-specific expression and alternative splicing of the COL6A3 gene in pancreatic cancer.

Arafat H, Lazar M, Salem K, Chipitsyna G, Gong Q, Pan TC, Zhang RZ, Yeo CJ, Chu ML. Arafat H, et al. Among authors: chu ml. Surgery. 2011 Aug;150(2):306-15. doi: 10.1016/j.surg.2011.05.011. Epub 2011 Jun 30. Surgery. 2011. PMID: 21719059 Free PMC article.

10

Amino acid sequence of the triple-helical domain of human collagen type VI.

Chu ML, Conway D, Pan TC, Baldwin C, Mann K, Deutzmann R, Timpl R. Chu ML, et al. J Biol Chem. 1988 Dec 15;263(35):18601-6. J Biol Chem. 1988. PMID: 3198591 Free article.

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