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Year | Number of Results |
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2012 | 2 |
2013 | 3 |
2016 | 1 |
2020 | 1 |
2024 | 0 |
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6 results
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Page 1
The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.
J Biol Chem. 2020 Mar 20;295(12):3865-3874. doi: 10.1074/jbc.RA119.012249. Epub 2020 Feb 11.
J Biol Chem. 2020.
PMID: 32047108
Free PMC article.
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
Potelle S, Morelle W, Dulary E, Duvet S, Vicogne D, Spriet C, Krzewinski-Recchi MA, Morsomme P, Jaeken J, Matthijs G, De Bettignies G, Foulquier F.
Potelle S, et al.
Hum Mol Genet. 2016 Apr 15;25(8):1489-500. doi: 10.1093/hmg/ddw026. Epub 2016 Feb 1.
Hum Mol Genet. 2016.
PMID: 27008884
Free article.
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Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.
Rosnoblet C, Legrand D, Demaegd D, Hacine-Gherbi H, de Bettignies G, Bammens R, Borrego C, Duvet S, Morsomme P, Matthijs G, Foulquier F.
Rosnoblet C, et al.
Hum Mol Genet. 2013 Jul 15;22(14):2914-28. doi: 10.1093/hmg/ddt146. Epub 2013 Apr 10.
Hum Mol Genet. 2013.
PMID: 23575229
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Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.
Demaegd D, Foulquier F, Colinet AS, Gremillon L, Legrand D, Mariot P, Peiter E, Van Schaftingen E, Matthijs G, Morsomme P.
Demaegd D, et al.
Proc Natl Acad Sci U S A. 2013 Apr 23;110(17):6859-64. doi: 10.1073/pnas.1219871110. Epub 2013 Apr 8.
Proc Natl Acad Sci U S A. 2013.
PMID: 23569283
Free PMC article.
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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165.
Zeevaert R, de Zegher F, Sturiale L, Garozzo D, Smet M, Moens M, Matthijs G, Jaeken J.
Zeevaert R, et al.
JIMD Rep. 2013;8:145-52. doi: 10.1007/8904_2012_172. Epub 2012 Aug 22.
JIMD Rep. 2013.
PMID: 23430531
Free PMC article.
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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.
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.
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