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The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Franken GAC, Müller D, Mignot C, Keren B, Lévy J, Tabet AC, Germanaud D, Tejada MI, Kroes HY, Nievelstein RAJ, Brimble E, Ruzhnikov M, Claverie-Martin F, Szczepańska M, Ćuk M, Latta F, Konrad M, Martínez-Cruz LA, Bindels RJM, Hoenderop JGJ, Schlingmann KP, de Baaij JHF. Franken GAC, et al. Hum Mutat. 2021 Apr;42(4):473-486. doi: 10.1002/humu.24182. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33600043 Free PMC article.
Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).
Gómez-García I, Stuiver M, Ereño J, Oyenarte I, Corral-Rodríguez MA, Müller D, Martínez-Cruz LA. Gómez-García I, et al. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012 Oct 1;68(Pt 10):1198-203. doi: 10.1107/S1744309112035348. Epub 2012 Sep 26. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2012. PMID: 23027747 Free PMC article.
Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.
Corral-Rodríguez MÁ, Stuiver M, Abascal-Palacios G, Diercks T, Oyenarte I, Ereño-Orbea J, de Opakua AI, Blanco FJ, Encinar JA, Spiwok V, Terashima H, Accardi A, Müller D, Martínez-Cruz LA. Corral-Rodríguez MÁ, et al. Biochem J. 2014 Nov 15;464(1):23-34. doi: 10.1042/BJ20140409. Biochem J. 2014. PMID: 25184538 Free PMC article.
Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.
Giménez-Mascarell P, Oyenarte I, Hardy S, Breiderhoff T, Stuiver M, Kostantin E, Diercks T, Pey AL, Ereño-Orbea J, Martínez-Chantar ML, Khalaf-Nazzal R, Claverie-Martin F, Müller D, Tremblay ML, Martínez-Cruz LA. Giménez-Mascarell P, et al. J Biol Chem. 2017 Jan 20;292(3):786-801. doi: 10.1074/jbc.M116.759944. Epub 2016 Nov 29. J Biol Chem. 2017. PMID: 27899452 Free PMC article.
Novel Aspects of Renal Magnesium Homeostasis.
Giménez-Mascarell P, Schirrmacher CE, Martínez-Cruz LA, Müller D. Giménez-Mascarell P, et al. Front Pediatr. 2018 Apr 9;6:77. doi: 10.3389/fped.2018.00077. eCollection 2018. Front Pediatr. 2018. PMID: 29686978 Free PMC article. Review.
ARL15 modulates magnesium homeostasis through N-glycosylation of CNNMs.
Zolotarov Y, Ma C, González-Recio I, Hardy S, Franken GAC, Uetani N, Latta F, Kostantin E, Boulais J, Thibault MP, Côté JF, Díaz-Moreno I, Quintana AD, Hoenderop JGJ, Martínez-Cruz LA, Tremblay ML, de Baaij JHF. Zolotarov Y, et al. Cell Mol Life Sci. 2021 Jul;78(13):5427-5445. doi: 10.1007/s00018-021-03832-8. Epub 2021 Jun 5. Cell Mol Life Sci. 2021. PMID: 34089346 Free PMC article.
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