Search Results - "Tadesse, Saba"

Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency by Garone, Caterina, Garcia‐Diaz, Beatriz, Emmanuele, Valentina, Lopez, Luis C, Tadesse, Saba, Akman, Hasan O, Tanji, Kurenai, Quinzii, Catarina M, Hirano, Michio

“…Autosomal recessive mutations in the thymidine kinase 2 gene ( TK2 ) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme…”
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Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway 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

“…Coenzyme Q (CoQ) is an electron acceptor for sulfide‐quinone reductase (SQR), the first enzyme of the hydrogen sulfide oxidation pathway. Here, we show that…”
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Lack of aprataxin impairs mitochondrial functions via downregulation of the APE1/NRF1/NRF2 pathway by Garcia-Diaz, Beatriz, Barca, Emanuele, Balreira, Andrea, Lopez, Luis C, Tadesse, Saba, Krishna, Sindhu, Naini, Ali, Mariotti, Caterina, Castellotti, Barbara, Quinzii, Catarina M

“…Ataxia oculomotor apraxia type 1 (AOA1) is an autosomal recessive disease caused by mutations in APTX, which encodes the DNA strand-break repair protein…”
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Definitive Diagnosis of Mitochondrial Neurogastrointestinal Encephalomyopathy by Biochemical Assays by Marti, Ramon, Spinazzola, Antonella, Tadesse, Saba, Nishino, Ichizo, Nishigaki, Yutaka, Hirano, Michio

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). The clinical…”
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Altered Thymidine Metabolism Due to Defects of Thymidine Phosphorylase by Spinazzola, Antonella, Marti, Ramon, Nishino, Ichizo, Andreu, Antonio L., Naini, Ali, Tadesse, Saba, Pela, Ivana, Zammarchi, Enrico, Donati, M. Alice, Oliver, Juan A., Hirano, Michio

“…Mitochondrialneurogastrointestinalencephalomyopathy (MNGIE) is an autosomal recessive human disease due to mutations in the thymidine phosphorylase (TP) gene…”
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Effects of inhibiting CoQ10 biosynthesis with 4-nitrobenzoate in human fibroblasts by Quinzii, Catarina M, Tadesse, Saba, Naini, Ali, Hirano, Michio

“…Coenzyme Q(10) (CoQ(10)) is a potent lipophilic antioxidant in cell membranes and a carrier of electrons in the mitochondrial respiratory chain. We previously…”
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Late-onset MNGIE due to partial loss of thymidine phosphorylase activity by Martí, Ramon, Verschuuren, Jan J. G. M., Buchman, Alan, Hirano, Ikuo, Tadesse, Saba, van Kuilenburg, André B. P., van Gennip, Albert H., Poorthuis, Ben J. H. M., Hirano, Michio

“…Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymidine phosphorylase (TP). All MNGIE patients have…”
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Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy by Garone, Caterina, Tadesse, Saba, Hirano, Michio

“…Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of…”
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Mitochondrial neurogastrointestinal encephalomyopathy: An autosomal recessive disorder due to thymidine phosphorylase mutations 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, Hirano, Ikuo, Bonilla, Eduardo, Rowland, Lewis P., DiMauro, Salvatore, Hirano, Michio

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Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency 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

“…Objective Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance…”
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SETX (senataxin), the helicase mutated in AOA2 and ALS4, functions in autophagy regulation 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.

“…SETX (senataxin) is an RNA/DNA helicase that has been implicated in transcriptional regulation and the DNA damage response through resolution of R-loop…”
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Tissue‐specific oxidative stress and loss of mitochondria in CoQ‐deficient Pdss2 mutant mice by Quinzii, Catarina M., Garone, Caterina, Emmanuele, Valentina, Tadesse, Saba, Krishna, Sindu, Dorado, Beatriz, Hirano, Michio

“…Primary human CoQ10 deficiencies are clinically heterogeneous diseases caused by mutations in PDSS2 and other genes required for CoQ10 biosynthesis. Our in…”
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Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency by Lopez‐Gomez, Carlos, Sanchez‐Quintero, Maria J., Lee, Eung Jeon, Kleiner, Gulio, Tadesse, Saba, Xie, Jun, Akman, Hasan Orhan, Gao, Guangping, Hirano, Michio

“…Objective Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial…”
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USMG5 Ashkenazi Jewish founder mutation impairs mitochondrial complex V dimerization and ATP synthesis by Barca, Emanuele, Ganetzky, Rebecca D, Potluri, Prasanth, Juanola-Falgarona, Marti, Gai, Xiaowu, Li, Dong, Jalas, Chaim, Hirsch, Yoel, Emmanuele, Valentina, Tadesse, Saba, Ziosi, Marcello, Akman, Hasan O, Chung, Wendy K, Tanji, Kurenai, McCormick, Elizabeth M, Place, Emily, Consugar, Mark, Pierce, Eric A, Hakonarson, Hakon, Wallace, Douglas C, Hirano, Michio, Falk, Marni J

“…Abstract Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with…”
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Abnormalities of lipid metabolism in neuronal models of CoQ10 deficiency (S49.004) by Pesini, Alba, Monzio-Compagnoni, Giacomo, Barriocanal-Casado, Eliana, Hidalgo-Gutierrez, Agustin, Kleiner, Giulio, Yanez, Giussepe A., Bakkali, Mohamed, Monfrini, Edoardo, Chhonker, Yashpal S., Tadesse, Saba, Larrea, Delfina, Murry, Daryl J., Mariotti, Caterina, Castellotti, Barbara, Lopez, Luis, Di Fonzo, Alesio, Area-Gomez, Estela, Quinzii, Catarina M.

“…Abstract only…”
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Thymidine Phosphorylase Intracellular Enzyme Replacement Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) (3975) by Shintaku, Jonathan, Lian, Wenlong, Li, Xiang, Tadesse, Saba, Ting, May Theng, Xu, Xingfu, Long, Nicholas E., Ramirez-Paz, Josell, Qian, Ziqing, Sethuraman, Natarajan, Hirano, Michio

“…Abstract only…”
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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease 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, Dorschner, Michael O, Mansukhani, Mahesh, Comi, Giacomo Pietro, Ronchi, Dario, Marti, Ramon, Ribes, Antonia, Tort, Frederic, Hirano, Michio

“…Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our…”
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Decreased Coenzyme Q10 Levels in Multiple System Atrophy Cerebellum by Barca, Emanuele, Kleiner, Giulio, Tang, Guomei, Ziosi, Marcello, Tadesse, Saba, Masliah, Eliezer, Louis, Elan D., Faust, Phyllis, Kang, Un J, Torres, Jose, Cortes, Etty P., Vonsattel, Jean-Paul G., Kuo, Sheng-Han, Quinzii, Catarina M.

“…In familial and sporadic multiple system atrophy (MSA) patients, deficiency of coenzyme Q10 (CoQ10) has been associated with mutations in COQ2, which encodes…”
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CoQ10 supplementation rescues nephrotic syndrome through normalization of H2S oxidation pathway by Kleiner, Giulio, Barca, Emanuele, Ziosi, Marcello, Emmanuele, Valentina, Xu, Yimeng, Hidalgo-Gutierrez, Agustin, Qiao, Changhong, Tadesse, Saba, Area-Gomez, Estela, Lopez, Luis C., Quinzii, Catarina M.

“…Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is the most common phenotype associated with primary coenzyme Q10…”
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Bioenergetic markers in skin fibroblasts of sporadic amyotrophic lateral sclerosis and progressive lateral sclerosis patients by Kirk, Kathryne, Gennings, Chris, Hupf, Jonathan C., Tadesse, Saba, D'Aurelio, Marilena, Kawamata, Hibiki, Valsecchi, Federica, Mitsumoto, Hiroshi, Manfredi, Giovanni

“…Energy metabolism could influence amyotrophic lateral sclerosis (ALS) and progressive lateral sclerosis (PLS) pathogenesis and the response to therapy. We…”
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