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PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.
Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ. Morgan NV, et al. Among authors: nardocci n. Nat Genet. 2006 Jul;38(7):752-4. doi: 10.1038/ng1826. Epub 2006 Jun 18. Nat Genet. 2006. PMID: 16783378 Free PMC article.
Neurodegeneration associated with genetic defects in phospholipase A(2).
Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ. Gregory A, et al. Among authors: nardocci n. Neurology. 2008 Oct 28;71(18):1402-9. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17. Neurology. 2008. PMID: 18799783 Free PMC article.
Early onset primary dystonia.
Zorzi G, Zibordi F, Garavaglia B, Nardocci N. Zorzi G, et al. Among authors: nardocci n. Eur J Paediatr Neurol. 2009 Nov;13(6):488-92. doi: 10.1016/j.ejpn.2008.12.001. Epub 2009 Jan 20. Eur J Paediatr Neurol. 2009. PMID: 19157930 Review.
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.
Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Nardocci N, Mootha VK, Tiranti V. Leoni V, et al. Among authors: nardocci n. Mol Genet Metab. 2012 Mar;105(3):463-71. doi: 10.1016/j.ymgme.2011.12.005. Epub 2011 Dec 14. Mol Genet Metab. 2012. PMID: 22221393 Free PMC article.
181 results