Works by Tadesse, Saba

Results: 16

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

Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.

Published in:

Annals of Neurology, 2021, v. 90, n. 4, p. 640, doi. 10.1002/ana.26185

By:

Lopez‐Gomez, Carlos;
Sanchez‐Quintero, Maria J.;
Lee, Eung Jeon;
Kleiner, Gulio;
Tadesse, Saba;
Xie, Jun;
Akman, Hasan Orhan;
Gao, Guangping;
Hirano, Michio

Publication type:

Article

Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.

Published in:

2017

By:

Lopez‐Gomez, Carlos;
Levy, Rebecca J.;
Sanchez‐Quintero, Maria J.;
Juanola‐Falgarona, Martí;
Barca, Emanuele;
Garcia‐Diaz, Beatriz;
Tadesse, Saba;
Garone, Caterina;
Hirano, Michio

Publication type:

journal article

Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients.

Published in:

Annals of Neurology, 2014, v. 76, n. 4, p. 620, doi. 10.1002/ana.24244

By:

Kirk, Kathryne;
Gennings, Chris;
Hupf, Jonathan C.;
Tadesse, Saba;
D'Aurelio, Marilena;
Kawamata, Hibiki;
Valsecchi, Federica;
Mitsumoto, Hiroshi;
Manfredi, Giovanni

Publication type:

Article

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Published in:

EMBO Molecular Medicine, 2017, v. 9, n. 1, p. 96, doi. 10.15252/emmm.201606356

By:

Ziosi, Marcello;
Di Meo, Ivano;
Kleiner, Giulio;
Gao, Xing‐Huang;
Barca, Emanuele;
Sanchez‐Quintero, Maria J;
Tadesse, Saba;
Jiang, Hongfeng;
Qiao, Changhong;
Rodenburg, Richard J;
Scalais, Emmanuel;
Schuelke, Markus;
Willard, Belinda;
Hatzoglou, Maria;
Tiranti, Valeria;
Quinzii, Catarina M

Publication type:

Article

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency.

Published in:

EMBO Molecular Medicine, 2014, v. 6, n. 8, p. 1016, doi. 10.15252/emmm.201404092

By:

Garone, Caterina;
Garcia‐Diaz, Beatriz;
Emmanuele, Valentina;
Lopez, Luis C;
Tadesse, Saba;
Akman, Hasan O;
Tanji, Kurenai;
Quinzii, Catarina M;
Hirano, Michio

Publication type:

Article

Late‐onset MNGIE due to partial loss of thymidine phosphorylase activity.

Published in:

Annals of Neurology, 2005, v. 58, n. 4, p. 649

By:

Ramon Martí;
Jan J. G. M. Verschuuren;
Alan Buchman;
Ikuo Hirano;
Saba Tadesse;
André B. P. van Kuilenburg;
Albert H. van Gennip;
Ben J. H. M. Poorthuis;
Michio Hirano

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Published in:

2000

By:

Nishino, Ichizo;
Spinazzola, Antonella;
Papadimitriou, Alexandros;
Hammans, Simon;
Steiner, Israel;
Hahn, Cecil D.;
Connolly, Anne M.;
Verloes, Alain;
Guimarães, João;
Maillard, Ivan;
Hamano, Hitoshi;
Donati, M. Alice;
Semrad, Carol E.;
Russell, James A.;
Andreu, Antonio L.;
Hadjigeorgiou, Giorgos M.;
Vu, Tuan H.;
Tadesse, Saba;
Nygaard, Torbjoern G.;
Nonaka, Ikuya

Publication type:

journal article

USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis.

Published in:

Human Molecular Genetics, 2018, v. 27, n. 19, p. 3305, doi. 10.1093/hmg/ddy231

By:

Barca, Emanuele;
Ganetzky, Rebecca D;
Potluri, Prasanth;
Juanola-Falgarona, Marti;
Gai, Xiaowu;
Li, Dong;
Jalas, Chaim;
Hirsch, Yoel;
Emmanuele, Valentina;
Tadesse, Saba

Publication type:

Article

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy.

Published in:

Brain: A Journal of Neurology, 2011, v. 134, n. 11, p. 3326, doi. 10.1093/brain/awr245

By:

Garone, Caterina;
Tadesse, Saba;
Hirano, Michio

Publication type:

Article

Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 16, p. 4516, doi. 10.1093/hmg/ddv183

By:

Garcia-Diaz, Beatriz;
Barca, Emanuele;
Balreira, Andrea;
Lopez, Luis C.;
Tadesse, Saba;
Krishna, Sindhu;
Naini, Ali;
Mariotti, Caterina;
Castellotti, Barbara;
Quinzii, Catarina M.

Publication type:

Article

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401

By:

López, Luis C.;
Akman, Hasan O.;
García-Cazorla, Ángeles;
Dorado, Beatriz;
Martí, Ramón;
Nishino, Ichizo;
Tadesse, Saba;
Pizzorno, Giuseppe;
Shungu, Dikoma;
Bonilla, Eduardo;
Tanji, Kurenai;
Hirano, Michio

Publication type:

Article

Effects of Inhibiting CoQ<sub>10</sub> Biosynthesis with 4-nitrobenzoate in Human Fibroblasts.

Published in:

PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0030606

By:

Quinzii, Catarina M.;
Tadesse, Saba;
Naini, Ali;
Hirano, Michio

Publication type:

Article

SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation.

Published in:

Autophagy, 2021, v. 17, n. 8, p. 1889, doi. 10.1080/15548627.2020.1796292

By:

Richard, Patricia;
Feng, Shuang;
Tsai, Yueh-Lin;
Li, Wencheng;
Rinchetti, Paola;
Muhith, Ubayed;
Irizarry-Cole, Juan;
Stolz, Katharine;
Sanz, Lionel A.;
Hartono, Stella;
Hoque, Mainul;
Tadesse, Saba;
Seitz, Hervé;
Lotti, Francesco;
Hirano, Michio;
Chédin, Frédéric;
Tian, Bin;
Manley, James L.

Publication type:

Article

Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Published in:

FEBS Letters, 2007, v. 581, n. 18, p. 3410, doi. 10.1016/j.febslet.2007.06.042

By:

Valentino, Maria Lucia;
Martı´, Ramon;
Tadesse, Saba;
López, Luis Carlos;
Manes, Jose L.;
Lyzak, Judy;
Hahn, Angelika;
Carelli, Valerio;
Hirano, Michio

Publication type:

Article

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice.

Published in:

FASEB Journal, 2013, v. 27, n. 2, p. 612, doi. 10.1096/fj.12-209361

By:

Quinzii, Catarina M.;
Garone, Caterina;
Emmanuele, Valentina;
Tadesse, Saba;
Krishna, Sindu;
Dorado, Beatriz;
Hirano, Michio

Publication type:

Article