Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Saba Tadesse"'
Autor:
Carlos Lopez-Gomez, Henly Hewan, Carlos Sierra, Hasan O. Akman, Maria J. Sanchez-Quintero, Marti Juanola-Falgarona, Saba Tadesse, Kurenai Tanji, Elisa E. Konofagou, Michio Hirano
Publikováno v:
EBioMedicine, Vol 46, Iss , Pp 356-367 (2019)
Background: TK2 is a nuclear gene encoding the mitochondrial matrix protein thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial nucleotide salvage pathway. Deficiency of TK2 activity causes mitochondrial DNA (mtDNA) depletion, which in h
Externí odkaz:
https://doaj.org/article/d89965251f304cec933695d220f6d175
Autor:
Marcello Ziosi, Ivano Di Meo, Giulio Kleiner, Xing‐Huang Gao, Emanuele Barca, Maria J Sanchez‐Quintero, Saba Tadesse, Hongfeng Jiang, Changhong Qiao, Richard J Rodenburg, Emmanuel Scalais, Markus Schuelke, Belinda Willard, Maria Hatzoglou, Valeria Tiranti, Catarina M Quinzii
Publikováno v:
EMBO Molecular Medicine, Vol 9, Iss 1, Pp 96-111 (2017)
Abstract 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 lack of CoQ in human skin fibroblasts causes impairment of hydrogen sulfide oxidat
Externí odkaz:
https://doaj.org/article/c93d874d27cf40a7a84b8c58b34251f8
Publikováno v:
PLoS ONE, Vol 7, Iss 2, p e30606 (2012)
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 characterized the effects of varying severities of CoQ(10) deficiency on ROS production and
Externí odkaz:
https://doaj.org/article/4745f2b2c2fc48d08b8f708137e8a926
Autor:
Alba Pesini, Giacomo Monzio-Compagnoni, Eliana Barriocanal-Casado, Agustin Hidalgo-Gutierrez, Giulio Kleiner, Giussepe A. Yanez, Mohamed Bakkali, Edoardo Monfrini, Yashpal S. Chhonker, Saba Tadesse, Delfina Larrea, Daryl J. Murry, Caterina Mariotti, Barbara Castellotti, Luis Lopez, Alesio Di Fonzo, Estela Area-Gomez, Catarina M. Quinzii
Publikováno v:
Thursday, April 27.
Autor:
Edoardo Monfrini, Alba Pesini, Fabio Biella, Claudia F.R. Sobreira, Valentina Emmanuele, Gloria Brescia, Luis Carlos Lopez, Saba Tadesse, Michio Hirano, Giacomo P. Comi, Catarina Maria Quinzii, Alessio Di Fonzo
Publikováno v:
Neurology Genetics. 9:e200058
Background and ObjectivesCoenzyme Q10(CoQ10)–deficient cerebellar ataxia can be due to pathogenic variants in genes encoding for CoQ10biosynthetic proteins or associated with defects in protein unrelated to its biosynthesis. Diagnosis is crucial be
Autor:
Carlos Lopez-Gomez, Hasan O. Akman, Michio Hirano, Jun Xie, Guangping Gao, Maria J. Sanchez-Quintero, Saba Tadesse, Gulio Kleiner, Eung Jeon Lee
Publikováno v:
Ann Neurol
Objective Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. Treatment with pyrimidine deoxynucleosides deoxycytidine
Autor:
Giulio Kleiner, Agustín Hidalgo-Gutiérrez, Luis C. López, Emanuele Barca, Valentina Emmanuele, Saba Tadesse, Yimeng Xu, Marcello Ziosi, Estela Area-Gomez, Changhong Qiao, Catarina M. Quinzii
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1864:3708-3722
Nephrotic syndrome (NS), a frequent chronic kidney disease in children and young adults, is the most common phenotype associated with primary coenzyme Q(10) (CoQ(10)) deficiency and is very responsive to CoQ(10) supplementation, although the pathomec
Autor:
Michio Hirano, Saba Tadesse, Hervé Seitz, Bin Tian, Stella R. Hartono, Wencheng Li, James L. Manley, Francesco Lotti, Mainul Hoque, Katharine Stolz, Ubayed Muhith, Lionel A. Sanz, Paola Rinchetti, Patricia Richard, Frédéric Chédin, Juan Irizarry-Cole, Yueh Lin Tsai, Shuang Feng
Publikováno v:
Autophagy
Autophagy, Taylor & Francis, 2020, pp.1-18. ⟨10.1080/15548627.2020.1796292⟩
Autophagy, Taylor & Francis, 2020, pp.1-18. ⟨10.1080/15548627.2020.1796292⟩
SETX (senataxin) is an RNA/DNA helicase that has been implicated in transcriptional regulation and the DNA damage response through resolution of R-loop structures. Mutations in SETX result in either of two distinct neurodegenerative disorders. SETX d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3635f79bdc3c93c0a69f0907cfade07c
https://hal.archives-ouvertes.fr/hal-03032472/file/Richard_et_al_2020.pdf
https://hal.archives-ouvertes.fr/hal-03032472/file/Richard_et_al_2020.pdf
Autor:
Hakon Hakonarson, Valentina Emmanuele, Mark Consugar, Xiaowu Gai, Martí Juanola-Falgarona, Marni J. Falk, Eric A. Pierce, Michio Hirano, Kurenai Tanji, Elizabeth M. McCormick, Emily Place, Saba Tadesse, Chaim Jalas, Dong Li, Marcello Ziosi, Hasan O. Akman, Rebecca D. Ganetzky, Yoel Hirsch, Emanuele Barca, Prasanth Potluri, Wendy K. Chung, Douglas C. Wallace
Publikováno v:
Human Molecular Genetics. 27:3305-3312
Leigh syndrome is a frequent, heterogeneous pediatric presentation of mitochondrial oxidative phosphorylation (OXPHOS) disease, manifesting with psychomotor retardation and necrotizing lesions in brain deep gray matter. OXPHOS occurs at the inner mit
Autor:
Saba Tadesse, Beatriz Garcia-Diaz, Caterina Garone, Carlos Lopez-Gomez, Rebecca J. Levy, Michio Hirano, Emanuele Barca, Maria J. Sanchez-Quintero, Martí Juanola-Falgarona
Publikováno v:
Annals of Neurology. 81:641-652
Objective Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene, TK2, cause TK2 deficiency, which manifests predominantly in