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Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism.
Stergachis AB, Pujol-Giménez J, Gyimesi G, Fuster D, Albano G, Troxler M, Picker J, Rosenberg PA, Bergin A, Peters J, El Achkar CM, Harini C, Manzi S, Rotenberg A, Hediger MA, Rodan LH. Stergachis AB, et al. Among authors: hediger ma. Ann Neurol. 2019 Jun;85(6):921-926. doi: 10.1002/ana.25477. Epub 2019 Apr 26. Ann Neurol. 2019. PMID: 30937933 Free PMC article.
A Call for Systematic Research on Solute Carriers.
César-Razquin A, Snijder B, Frappier-Brinton T, Isserlin R, Gyimesi G, Bai X, Reithmeier RA, Hepworth D, Hediger MA, Edwards AM, Superti-Furga G. César-Razquin A, et al. Among authors: hediger ma. Cell. 2015 Jul 30;162(3):478-87. doi: 10.1016/j.cell.2015.07.022. Cell. 2015. PMID: 26232220 Free article. Review.
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG. Dhayat N, et al. Among authors: hediger ma. J Am Soc Nephrol. 2016 May;27(5):1426-36. doi: 10.1681/ASN.2015040411. Epub 2015 Sep 16. J Am Soc Nephrol. 2016. PMID: 26376857 Free PMC article.
Reassessment of the Transport Mechanism of the Human Zinc Transporter SLC39A2.
Franz MC, Pujol-Giménez J, Montalbetti N, Fernandez-Tenorio M, DeGrado TR, Niggli E, Romero MF, Hediger MA. Franz MC, et al. Among authors: hediger ma. Biochemistry. 2018 Jul 3;57(26):3976-3986. doi: 10.1021/acs.biochem.8b00511. Epub 2018 Jun 7. Biochemistry. 2018. PMID: 29791142 Free PMC article.
Amino acid transporters revisited: New views in health and disease.
Kandasamy P, Gyimesi G, Kanai Y, Hediger MA. Kandasamy P, et al. Among authors: hediger ma. Trends Biochem Sci. 2018 Oct;43(10):752-789. doi: 10.1016/j.tibs.2018.05.003. Epub 2018 Aug 31. Trends Biochem Sci. 2018. PMID: 30177408 Review.
250 results