Clayton PT - Search Results

1

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Tuschl K, et al. Among authors: clayton pt. Nat Commun. 2016 May 27;7:11601. doi: 10.1038/ncomms11601. Nat Commun. 2016. PMID: 27231142 Free PMC article.

2

Congenital disorders of glycosylation type I leads to altered processing of N-linked glycans, as well as underglycosylation.

Mills P, Mills K, Clayton P, Johnson A, Whitehouse D, Winchester B. Mills P, et al. Biochem J. 2001 Oct 15;359(Pt 2):249-54. doi: 10.1042/0264-6021:3590249. Biochem J. 2001. PMID: 11583570 Free PMC article.

3

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology.

Mills K, Mills PB, Clayton PT, Johnson AW, Whitehouse DB, Winchester BG. Mills K, et al. Among authors: clayton pt. Clin Chem. 2001 Nov;47(11):2012-22. Clin Chem. 2001. PMID: 11673370

4

Analysis by matrix assisted laser desorption/ionisation-time of flight mass spectrometry of the post-translational modifications of alpha 1-antitrypsin isoforms separated by two-dimensional polyacrylamide gel electrophoresis.

Mills PB, Mills K, Johnson AW, Clayton PT, Winchester BG. Mills PB, et al. Among authors: clayton pt. Proteomics. 2001 Jun;1(6):778-86. doi: 10.1002/1615-9861(200106)1:6<778::AID-PROT778>3.0.CO;2-H. Proteomics. 2001. PMID: 11677785

5

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

Mills K, Mills PB, Clayton PT, Mian N, Johnson AW, Winchester BG. Mills K, et al. Among authors: clayton pt. Glycobiology. 2003 Feb;13(2):73-85. doi: 10.1093/glycob/cwg026. Epub 2002 Dec 17. Glycobiology. 2003. PMID: 12626422

6

Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIx.

Mills PB, Mills K, Mian N, Winchester BG, Clayton PT. Mills PB, et al. Among authors: clayton pt. J Inherit Metab Dis. 2003;26(2-3):119-34. doi: 10.1023/a:1024476915278. J Inherit Metab Dis. 2003. PMID: 12889655 Review.

7

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

Mills PB, Surtees RA, Champion MP, Beesley CE, Dalton N, Scambler PJ, Heales SJ, Briddon A, Scheimberg I, Hoffmann GF, Zschocke J, Clayton PT. Mills PB, et al. Among authors: clayton pt. Hum Mol Genet. 2005 Apr 15;14(8):1077-86. doi: 10.1093/hmg/ddi120. Epub 2005 Mar 16. Hum Mol Genet. 2005. PMID: 15772097

8

Hyperinsulinism of infancy associated with a novel splice site mutation in the SCHAD gene.

Hussain K, Clayton PT, Krywawych S, Chatziandreou I, Mills P, Ginbey DW, Geboers AJ, Berger R, van den Berg IE, Eaton S. Hussain K, et al. Among authors: clayton pt. J Pediatr. 2005 May;146(5):706-8. doi: 10.1016/j.jpeds.2005.01.032. J Pediatr. 2005. PMID: 15870679

9

Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT. Mills PB, et al. Among authors: clayton pt. Nat Med. 2006 Mar;12(3):307-9. doi: 10.1038/nm1366. Epub 2006 Feb 19. Nat Med. 2006. PMID: 16491085

10

An intriguing "silent" mutation and a founder effect in antiquitin (ALDH7A1).

Salomons GS, Bok LA, Struys EA, Pope LL, Darmin PS, Mills PB, Clayton PT, Willemsen MA, Jakobs C. Salomons GS, et al. Among authors: clayton pt. Ann Neurol. 2007 Oct;62(4):414-8. doi: 10.1002/ana.21206. Ann Neurol. 2007. PMID: 17721876

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