Shackleton S - Search Results

1

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

Shackleton S, Smallwood DT, Clayton P, Wilson LC, Agarwal AK, Garg A, Trembath RC. Shackleton S, et al. J Med Genet. 2005 Jun;42(6):e36. doi: 10.1136/jmg.2004.029751. J Med Genet. 2005. PMID: 15937076 Free PMC article. No abstract available.

2

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies.

Lloyd DJ, Trembath RC, Shackleton S. Lloyd DJ, et al. Among authors: shackleton s. Hum Mol Genet. 2002 Apr 1;11(7):769-77. doi: 10.1093/hmg/11.7.769. Hum Mol Genet. 2002. PMID: 11929849

3

Lamin A-linked progerias: is farnesylation the be all and end all?

Smallwood DT, Shackleton S. Smallwood DT, et al. Among authors: shackleton s. Biochem Soc Trans. 2010 Feb;38(Pt 1):281-6. doi: 10.1042/BST0380281. Biochem Soc Trans. 2010. PMID: 20074075

4

Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.

Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI. Mazereeuw-Hautier J, et al. Among authors: shackleton s. Br J Dermatol. 2007 Jun;156(6):1308-14. doi: 10.1111/j.1365-2133.2007.07897.x. Epub 2007 Apr 25. Br J Dermatol. 2007. PMID: 17459035 Review.

5

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC. Shackleton S, et al. Nat Genet. 2000 Feb;24(2):153-6. doi: 10.1038/72807. Nat Genet. 2000. PMID: 10655060

6

SUN1 interacts with nuclear lamin A and cytoplasmic nesprins to provide a physical connection between the nuclear lamina and the cytoskeleton.

Haque F, Lloyd DJ, Smallwood DT, Dent CL, Shanahan CM, Fry AM, Trembath RC, Shackleton S. Haque F, et al. Among authors: shackleton s. Mol Cell Biol. 2006 May;26(10):3738-51. doi: 10.1128/MCB.26.10.3738-3751.2006. Mol Cell Biol. 2006. PMID: 16648470 Free PMC article.

7

Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

Haque F, Mazzeo D, Patel JT, Smallwood DT, Ellis JA, Shanahan CM, Shackleton S. Haque F, et al. Among authors: shackleton s. J Biol Chem. 2010 Jan 29;285(5):3487-98. doi: 10.1074/jbc.M109.071910. Epub 2009 Nov 21. J Biol Chem. 2010. PMID: 19933576 Free PMC article.

8

Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.

Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J. Vigouroux C, et al. Among authors: shackleton s. Diabetes. 2000 Nov;49(11):1958-62. doi: 10.2337/diabetes.49.11.1958. Diabetes. 2000. PMID: 11078466

9

Nuclear envelope disease and chromatin organization.

Ellis JA, Shackleton S. Ellis JA, et al. Among authors: shackleton s. Biochem Soc Trans. 2011 Dec;39(6):1683-6. doi: 10.1042/BST20110744. Biochem Soc Trans. 2011. PMID: 22103507 Review.

10

A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus.

Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. Watkins RJ, et al. Among authors: shackleton s. Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12. Hum Mol Genet. 2013. PMID: 23406872 Free PMC article.

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