Works by Tanji, Kurenai

Results: 41
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    Upregulation of ZIP14 and Altered Zinc Homeostasis in Muscles in Pancreatic Cancer Cachexia.

    Published in:
    Cancers, 2020, v. 12, n. 1, p. 3, doi. 10.3390/cancers12010003
    By:
    • Shakri, Ahmad Rushdi;
    • Zhong, Timothy James;
    • Ma, Wanchao;
    • Coker, Courtney;
    • Kim, Sean;
    • Calluori, Stephanie;
    • Scholze, Hanna;
    • Szabolcs, Matthias;
    • Caffrey, Thomas;
    • Grandgenett, Paul M.;
    • Hollingsworth, Michael A.;
    • Tanji, Kurenai;
    • Kluger, Michael D.;
    • Miller, George;
    • Biswas, Anup Kumar;
    • Acharyya, Swarnali
    Publication type:
    Article
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    Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

    Published in:
    Annals of Neurology, 2024, v. 96, n. 6, p. 1209, doi. 10.1002/ana.27071
    By:
    • Hidalgo‐Gutierrez, Agustin;
    • Shintaku, Jonathan;
    • Ramon, Javier;
    • Barriocanal‐Casado, Eliana;
    • Pesini, Alba;
    • Saneto, Russell P.;
    • Garrabou, Gloria;
    • Milisenda, Jose Cesar;
    • Matas‐Garcia, Ana;
    • Gort, Laura;
    • Ugarteburu, Olatz;
    • Gu, Yue;
    • Koganti, Lahari;
    • Wang, Tian;
    • Tadesse, Saba;
    • Meneri, Megi;
    • Sciacco, Monica;
    • Wang, Shuang;
    • Tanji, Kurenai;
    • Horwitz, Marshall S.
    Publication type:
    Article
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    A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families.

    Published in:
    Journal of Inherited Metabolic Disease, 2022, v. 45, n. 5, p. 996, doi. 10.1002/jimd.12526
    By:
    • Ganapathi, Mythily;
    • Friocourt, Gaelle;
    • Gueguen, Naig;
    • Friederich, Marisa W.;
    • Le Gac, Gerald;
    • Okur, Volkan;
    • Loaëc, Nadège;
    • Ludwig, Thomas;
    • Ka, Chandran;
    • Tanji, Kurenai;
    • Marcorelles, Pascale;
    • Theodorou, Evangelos;
    • Lignelli‐Dipple, Angela;
    • Voisset, Cécile;
    • Walker, Melissa A.;
    • Briere, Lauren C.;
    • Bourhis, Amélie;
    • Blondel, Marc;
    • LeDuc, Charles;
    • Hagen, Jacob
    Publication type:
    Article
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    Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.

    Published in:
    Acta Neuropathologica, 2020, v. 139, n. 6, p. 1089, doi. 10.1007/s00401-020-02150-w
    By:
    • Kushnir, Alexander;
    • Todd, Joshua J.;
    • Witherspoon, Jessica W.;
    • Yuan, Qi;
    • Reiken, Steven;
    • Lin, Harvey;
    • Munce, Ross H.;
    • Wajsberg, Benjamin;
    • Melville, Zephan;
    • Clarke, Oliver B.;
    • Wedderburn-Pugh, Kaylee;
    • Wronska, Anetta;
    • Razaqyar, Muslima S.;
    • Chrismer, Irene C.;
    • Shelton, Monique O.;
    • Mankodi, Ami;
    • Grunseich, Christopher;
    • Tarnopolsky, Mark A.;
    • Tanji, Kurenai;
    • Hirano, Michio
    Publication type:
    Article
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    Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

    Published in:
    Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513
    By:
    • Papadopoulou, Lefkothea C.;
    • Sue, Carolyn M.;
    • Davidson, Mercy M.;
    • Tanji, Kurenai;
    • Nishino, Ichizo;
    • Sadlock, James E.;
    • Krishna, Sindu;
    • Walker, Winsome;
    • Selby, Jeanette;
    • Glerum, D. Moira;
    • Coster, Rudy Van;
    • Lyon, Gilles;
    • Scalais, Emmanuel;
    • Lebel, Roger;
    • Kaplan, Paige;
    • Shanske, Sara;
    • De Vivo, Darryl C.;
    • Bonilla, Eduardo;
    • Hirano, Michio
    Publication type:
    Article
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    Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1508, doi. 10.1093/brain/awt074
    By:
    • Melià, Maria J.;
    • Kubota, Akatsuki;
    • Ortolano, Saida;
    • Vílchez, Juan J.;
    • Gámez, Josep;
    • Tanji, Kurenai;
    • Bonilla, Eduardo;
    • Palenzuela, Lluís;
    • Fernández-Cadenas, Israel;
    • Přistoupilová, Anna;
    • García-Arumí, Elena;
    • Andreu, Antoni L.;
    • Navarro, Carmen;
    • Hirano, Michio;
    • Martí, Ramon
    Publication type:
    Article
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    Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

    Published in:
    Nature, 2000, v. 406, n. 6798, p. 906, doi. 10.1038/35022604
    By:
    • Nishino, Ichizo;
    • Fu, Jin;
    • Tanji, Kurenai;
    • Yamada, Takeshi;
    • Shimojo, Sadatomo;
    • Koori, Tateo;
    • Mora, Marina;
    • Riggs, Jack E.;
    • Oh, Shin J.;
    • Koga, Yasutoshi;
    • Sue, Carolyn M.;
    • Yamamoto, Ayaka;
    • Murakami, Nobuyuki;
    • Shanske, Sara;
    • Byrne, Edwared;
    • Bonilla, Eduardo;
    • Nonaka, Ikuya;
    • DiMauro, Salvatore;
    • Hirano, Michio
    Publication type:
    Article
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    Neuronophagia and microglial nodules in a SARS-CoV-2 patient with cerebellar hemorrhage.

    Published in:
    Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-01024-2
    By:
    • Al-Dalahmah, Osama;
    • Thakur, Kiran T.;
    • Nordvig, Anna S.;
    • Prust, Morgan L.;
    • Roth, William;
    • Lignelli, Angela;
    • Uhlemann, Anne-Catrin;
    • Miller, Emily Happy;
    • Kunnath-Velayudhan, Shajo;
    • Del Portillo, Armando;
    • Liu, Yang;
    • Hargus, Gunnar;
    • Teich, Andrew F.;
    • Hickman, Richard A.;
    • Tanji, Kurenai;
    • Goldman, James E.;
    • Faust, Phyllis L.;
    • Canoll, Peter
    Publication type:
    Article
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    Fhl1 W122S causes loss of protein function and late-onset mild myopathy.

    Published in:
    Human Molecular Genetics, 2015, v. 24, n. 3, p. 714, doi. 10.1093/hmg/ddu490
    By:
    • Emmanuele, Valentina;
    • Kubota, Akatsuki;
    • Garcia-Diaz, Beatriz;
    • Garone, Caterina;
    • Akman, Hasan O.;
    • Sánchez-Gutiérrez, Daniel;
    • Escudero, Luis M.;
    • Kariya, Shingo;
    • Homma, Shunichi;
    • Tanji, Kurenai;
    • Quinzii, Catarina M.;
    • Hirano, Michio
    Publication type:
    Article
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    GYG1: A distal myopathy with polyglucosan bodies.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2020, v. 55, n. 1, p. 88, doi. 10.1002/jmd2.12129
    By:
    • Nicolau, Stefan;
    • Tracy, Jennifer A.;
    • Pisapia, David J.;
    • Tanji, Kurenai;
    • Milone, Margherita
    Publication type:
    Article
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