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Editorial
. 2018 Jul;29(7):1787-1789.
doi: 10.1681/ASN.2018040450. Epub 2018 May 22.

GATM Mutations Cause a Dominant Fibrillar Conformational Disease in Mitochondria-When Eternity Kills

Affiliations
Editorial

GATM Mutations Cause a Dominant Fibrillar Conformational Disease in Mitochondria-When Eternity Kills

Pierre J Courtoy et al. J Am Soc Nephrol. 2018 Jul.
No abstract available

Keywords: Fanconi; conformational disease; mitochondria.

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Comment on

  • Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
    Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.

References

    1. Luder J, Sheldon W: A familial tubular absorption defect of glucose and amino acids. Arch Dis Child 30: 160–164, 1955 - PMC - PubMed
    1. Cherqui S, Courtoy PJ: The renal Fanconi syndrome in cystinosis: Pathogenic insights and therapeutic perspectives. Nat Rev Nephrol 13: 115–131, 2017 - PMC - PubMed
    1. Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, et al. : Glycine amidinotransferase (GATM), renal Fanconi syndrome, and kidney failure. J Am Soc Nephrol 29: 1849–1858, 2018 - PMC - PubMed
    1. Carrell RW, Lomas DA: Alpha1-antitrypsin deficiency--a model for conformational diseases. N Engl J Med 346: 45–53, 2002 - PubMed
    1. Fitzpatrick AWP, Falcon B, He S, Murzin AG, Murshudov G, Garringer HJ, et al. : Cryo-EM structures of tau filaments from Alzheimer’s disease. Nature 547: 185–190, 2017 - PMC - PubMed

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