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Page 1
The enigmatic role of tafazzin in cardiolipin metabolism.
Houtkooper RH, Turkenburg M, Poll-The BT, Karall D, Pérez-Cerdá C, Morrone A, Malvagia S, Wanders RJ, Kulik W, Vaz FM. Houtkooper RH, et al. Biochim Biophys Acta. 2009 Oct;1788(10):2003-14. doi: 10.1016/j.bbamem.2009.07.009. Epub 2009 Jul 18. Biochim Biophys Acta. 2009. PMID: 19619503 Free article. Review.
A nonsense mutation in the exon 2 of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene producing three mature mRNAs is the main cause of 3-hydroxy-3-methylglutaric aciduria in European Mediterranean patients.
Casale CH, Casals N, Pié J, Zapater N, Pérez-Cerdá C, Merinero B, Martínez-Pardo M, García-Peñas JJ, García-Gonzalez JM, Lama R, Poll-The BT, Smeitink JA, Wanders RJ, Ugarte M, Hegardt FG. Casale CH, et al. Arch Biochem Biophys. 1998 Jan 1;349(1):129-37. doi: 10.1006/abbi.1997.0456. Arch Biochem Biophys. 1998. PMID: 9439591
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, Karall D, Chapman KA, Huemer M, Hochuli M, Assoun M, Ballhausen D, Burlina A, Fowler B, Grünert SC, Grünewald S, Honzik T, Merinero B, Pérez-Cerdá C, Scholl-Bürgi S, Skovby F, Wijburg F, MacDonald A, Martinelli D, Sass JO, Valayannopoulos V, Chakrapani A. Baumgartner MR, et al. Orphanet J Rare Dis. 2014 Sep 2;9:130. doi: 10.1186/s13023-014-0130-8. Orphanet J Rare Dis. 2014. PMID: 25205257 Free PMC article. Review.
CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation.
Jansen JC, Cirak S, van Scherpenzeel M, Timal S, Reunert J, Rust S, Pérez B, Vicogne D, Krawitz P, Wada Y, Ashikov A, Pérez-Cerdá C, Medrano C, Arnoldy A, Hoischen A, Huijben K, Steenbergen G, Quelhas D, Diogo L, Rymen D, Jaeken J, Guffon N, Cheillan D, van den Heuvel LP, Maeda Y, Kaiser O, Schara U, Gerner P, van den Boogert MA, Holleboom AG, Nassogne MC, Sokal E, Salomon J, van den Bogaart G, Drenth JP, Huynen MA, Veltman JA, Wevers RA, Morava E, Matthijs G, Foulquier F, Marquardt T, Lefeber DJ. Jansen JC, et al. Am J Hum Genet. 2016 Feb 4;98(2):310-21. doi: 10.1016/j.ajhg.2015.12.010. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833332 Free PMC article.
130 results