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Page 1
TMEM165 deficiency causes a congenital disorder of glycosylation.
Foulquier F, Amyere M, Jaeken J, Zeevaert R, Schollen E, Race V, Bammens R, Morelle W, Rosnoblet C, Legrand D, Demaegd D, Buist N, Cheillan D, Guffon N, Morsomme P, Annaert W, Freeze HH, Van Schaftingen E, Vikkula M, Matthijs G. Foulquier F, et al. Among authors: annaert w. Am J Hum Genet. 2012 Jul 13;91(1):15-26. doi: 10.1016/j.ajhg.2012.05.002. Epub 2012 Jun 7. Am J Hum Genet. 2012. PMID: 22683087 Free PMC article.
Presenilin 1: more than just gamma-secretase.
Raemaekers T, Esselens C, Annaert W. Raemaekers T, et al. Among authors: annaert w. Biochem Soc Trans. 2005 Aug;33(Pt 4):559-62. doi: 10.1042/BST0330559. Biochem Soc Trans. 2005. PMID: 16042544 Review.
Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency.
Herreman A, Hartmann D, Annaert W, Saftig P, Craessaerts K, Serneels L, Umans L, Schrijvers V, Checler F, Vanderstichele H, Baekelandt V, Dressel R, Cupers P, Huylebroeck D, Zwijsen A, Van Leuven F, De Strooper B. Herreman A, et al. Among authors: annaert w. Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):11872-7. doi: 10.1073/pnas.96.21.11872. Proc Natl Acad Sci U S A. 1999. PMID: 10518543 Free PMC article.
146 results