Works matching IS 01418955 AND DT 2021 AND VI 44 AND IP 2

Results: 20

Editorial: Mitochondrial medicine special issue.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 289, doi. 10.1002/jimd.12374

By:

Chinnery, Patrick F.;
Falk, Marni J.;
Mootha, Vamsi K.;
Rahman, Shamima

Publication type:

Article

CHIP control degradation of mutant ETF:QO through ubiquitylation in late‐onset multiple acyl‐CoA dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 450, doi. 10.1002/jimd.12361

By:

Liu, Xin‐Yi;
Chen, Xue‐Jiao;
Zhao, Miao;
Wang, Zhi‐qiang;
Chen, Hai‐zhu;
Li, Hong‐Fu;
Wang, Chen‐Ji;
Wu, Shi‐Fei;
Peng, Chao;
Yin, Yue;
Fu, Hong‐Xia;
Lin, Min‐Ting;
Yu, Long;
Xiong, Zhi‐Qi;
Wu, Zhi‐Ying;
Wang, Ning

Publication type:

Article

The nucleotide prodrug CERC‐913 improves mtDNA content in primary hepatocytes from DGUOK‐deficient rats.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 492, doi. 10.1002/jimd.12354

By:

Vanden Avond, Mark A.;
Meng, Hui;
Beatka, Margaret J.;
Helbling, Daniel C.;
Prom, Mariah J.;
Sutton, Jessica L.;
Slick, Rebecca A.;
Dimmock, David P.;
Pertusati, Fabrizio;
Serpi, Michaela;
Pileggi, Elisa;
Crutcher, Patrick;
Thomas, Stephen;
Lawlor, Michael W.

Publication type:

Article

Regulatory environment for novel therapeutic development in mitochondrial diseases.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 292, doi. 10.1002/jimd.12353

By:

Hirano, Michio;
Berardo, Andres;
Barca, Emanuele;
Emmanuele, Valentina;
Quinzii, Catarina;
Simpson, Camilla V.;
Engelstad, Kristin;
Rosales, Xiomara Q.;
Thompson, John L. P.

Publication type:

Article

The mitochondria‐targeted hydrogen sulfide donor AP39 improves health and mitochondrial function in a C. elegans primary mitochondrial disease model.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 367, doi. 10.1002/jimd.12345

By:

Fox, Bridget C.;
Slade, Luke;
Torregrossa, Roberta;
Pacitti, Dario;
Szabo, Csaba;
Etheridge, Timothy;
Whiteman, Matthew

Publication type:

Article

Developing new treatments in partnership for primary mitochondrial disease: What does industry need from academics, and what do academics need from industry?

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 301, doi. 10.1002/jimd.12326

By:

Thompson, Paul W.

Publication type:

Article

Current progress with mammalian models of mitochondrial DNA disease.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 325, doi. 10.1002/jimd.12324

By:

Stewart, James Bruce

Publication type:

Article

Seeking impact: Global perspectives on outcome measure selection for translational and clinical research for primary mitochondrial disorders.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 343, doi. 10.1002/jimd.12320

By:

Goldstein, Amy;
Rahman, Shamima

Publication type:

Article

The pursuit of precision mitochondrial medicine: Harnessing preclinical cellular and animal models to optimize mitochondrial disease therapeutic discovery.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 312, doi. 10.1002/jimd.12319

By:

Falk, Marni J.

Publication type:

Article

A new diagnostic indication device of a biomarker growth differentiation factor 15 for mitochondrial diseases: From laboratory to automated inspection.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 358, doi. 10.1002/jimd.12317

By:

Koga, Yasutoshi;
Povalko, Nataliya;
Inoue, Eisuke;
Ishii, Akiko;
Fujii, Katsunori;
Fujii, Tatsuya;
Murayama, Kei;
Mogami, Yukiko;
Hata, Ikue;
Ikawa, Masamichi;
Fukami, Kei;
Fukumoto, Yoshihiro;
Nomura, Masatoshi;
Ichikawa, Kazuki;
Yoshida, Kaori

Publication type:

Article

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 415, doi. 10.1002/jimd.12314

By:

Bérat, Claire‐Marine;
Montealegre, Sebastian;
Wiedemann, Arnaud;
Nuzum, Malou Le Corronc;
Blondel, Amélie;
Debruge, Hugo;
Cano, Aline;
Chabrol, Brigitte;
Hoebeke, Célia;
Polak, Michel;
Stoupa, Athanasia;
Feillet, François;
Torre, Stéphanie;
Boddaert, Nathalie;
Bruel, Henri;
Barth, Magalie;
Damaj, Lena;
Abi‐Wardé, Marie‐Thérèse;
Afenjar, Alexandra;
Benoist, Jean‐François

Publication type:

Article

The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER‐to‐Golgi transport and at the mitochondria.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 426, doi. 10.1002/jimd.12312

By:

Milev, Miroslav P.;
Saint‐Dic, Djenann;
Zardoui, Khashayar;
Klopstock, Thomas;
Law, Christopher;
Distelmaier, Felix;
Sacher, Michael

Publication type:

Article

The mitochondrial‐targeted reactive species scavenger JP4‐039 prevents sulfite‐induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 481, doi. 10.1002/jimd.12310

By:

Glänzel, Nícolas Manzke;
Grings, Mateus;
da Rosa‐Junior, Nevton Teixeira;
Carvalho, Leila Maria Cereta;
Mohsen, Al‐Walid;
Wipf, Peter;
Wajner, Moacir;
Vockley, Jerry;
Leipnitz, Guilhian

Publication type:

Article

Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307

By:

Lehtonen, Jenni M.;
Auranen, Mari;
Darin, Niklas;
Sofou, Kalliopi;
Bindoff, Laurence;
Hikmat, Omar;
Uusimaa, Johanna;
Vieira, Päivi;
Tulinius, Már;
Lönnqvist, Tuula;
Coo, Irenaeus F.;
Suomalainen, Anu;
Isohanni, Pirjo

Publication type:

Article

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 376, doi. 10.1002/jimd.12300

By:

Hirano, Michio;
Carelli, Valerio;
De Giorgio, Roberto;
Pironi, Loris;
Accarino, Anna;
Cenacchi, Giovanna;
D'Alessandro, Roberto;
Filosto, Massimiliano;
Martí, Ramon;
Nonino, Francesco;
Pinna, Antonio Daniele;
Baldin, Elisa;
Bax, Bridget Elizabeth;
Bolletta, Alessio;
Bolletta, Riccardo;
Boschetti, Elisa;
Cescon, Matteo;
D'Angelo, Roberto;
Dotti, Maria Teresa;
Giordano, Carla

Publication type:

Article

Increased protein propionylation contributes to mitochondrial dysfunction in liver cells and fibroblasts, but not in myotubes.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 438, doi. 10.1002/jimd.12296

By:

Lagerwaard, Bart;
Pougovkina, Olga;
Bekebrede, Anna F.;
Brinke, Heleen;
Wanders, Ronald J.A.;
Nieuwenhuizen, Arie G.;
Keijer, Jaap;
Boer, Vincent C. J.

Publication type:

Article

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288

By:

Marti‐Sanchez, Laura;
Baide‐Mairena, Heidy;
Marcé‐Grau, Anna;
Pons, Roser;
Skouma, Anastasia;
López‐Laso, Eduardo;
Sigatullina, Maria;
Rizzo, Cristiano;
Semeraro, Michela;
Martinelli, Diego;
Carrozzo, Rosalba;
Dionisi‐Vici, Carlo;
González‐Gutiérrez‐Solana, Luis;
Correa‐Vela, Marta;
Ortigoza‐Escobar, Juan Dario;
Sánchez‐Montañez, Ángel;
Vazquez, Élida;
Delgado, Ignacio;
Aguilera‐Albesa, Sergio;
Yoldi, María Eugenia

Publication type:

Article

Safety and efficacy of (+)‐epicatechin in subjects with Friedreich's ataxia: A phase II, open‐label, prospective study.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 502, doi. 10.1002/jimd.12285

By:

Qureshi, Muhammad Yasir;
Patterson, Marc C.;
Clark, Vicki;
Johnson, Jonathan N.;
Moutvic, Margaret A.;
Driscoll, Sherilyn W.;
Kemppainen, Jennifer L.;
Huston, John;
Anderson, Jeff R.;
Badley, Andrew D.;
Tebben, Peter J.;
Wackel, Philip;
Oglesbee, Devin;
Glockner, James;
Schreiner, George;
Dugar, Sundeep;
Touchette, Jillienne C.;
Gavrilova, Ralitza H.

Publication type:

Article

Issue Information.

Published in:: Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 1, doi. 10.1002/jimd.12257
Publication type:: Article

A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 388, doi. 10.1002/jimd.12248

By:

Yap, Zheng Yie;
Strucinska, Klaudia;
Matsuzaki, Satoshi;
Lee, Sukyeong;
Si, Yue;
Humphries, Kenneth;
Tarnopolsky, Mark A.;
Yoon, Wan Hee

Publication type:

Article