Zobrazeno 1 - 3
of 3
pro vyhledávání: '"metabolism [Electron Transport Complex I]"'
Autor:
Yulya S. Itkis, Maja Hempel, Ben Pode-Shakked, Piero Barboni, N.L. Sheremet, Polina G. Tsygankova, Riccardo Berutti, Valerio Carelli, Chiara La Morgia, Daniele Ghezzi, Leonardo Caporali, Jean-Michel Rozet, Natalia A. Andreeva, Amelie T van der Ven, Peter Charbel Issa, Wolfram S. Kunz, Sarah L. Stenton, Claudia B. Catarino, Johannes A. Mayr, Matias Wagner, Maria Lucia Cascavilla, Flavia Palombo, Reka Kovacs-Nagy, Ilka Wittig, Alessandra Maresca, Pedro Felipe Malacarne, Thomas Klopstock, Costanza Lamperti, Sylvie Gerber, Cornelia Kornblum, Holger Prokisch, Nino V. Zhorzholadze, Jana Meisterknecht, Robert Kopajtich, Tatiana A. Nevinitsyna, Ekaterina Zakharova, Michele Carbonelli, Tatiana D. Krylova, Michal Tzadok, Elisabeth Graf, Zahra Assouline, Francesca Tagliavini, Josseline Kaplan, Maria S. Shmelkova, Mariantonietta Capristo, Elise Héon, Ortal Barel, Peter Freisinger, Elisheva Javasky, Igor Bychkov, Christina Ludwig, Tim M. Strom, Catherine Vignal-Clermont, Juliana Heidler
Publikováno v:
The journal of clinical investigation 131(6), e138267 (2021). doi:10.1172/JCI138267
J Clin Invest
J Clin Invest
Leber's hereditary optic neuropathy (LHON) is the most frequent mitochondrial disease and was the first to be genetically defined by a point mutation in mitochondrial DNA (mtDNA). A molecular diagnosis is achieved in up to 95% of cases, the vast majo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24bf545cda9fb173a8ffc9ec90e829e6
https://doi.org/10.1172/jci138267
https://doi.org/10.1172/jci138267
Autor:
Repp, Birgit M., Mastantuono, Elisa, Alston, Charlotte L., Schiff, Manuel, Haack, Tobias B., Rotig, Agnes, Ardissone, Anna, Lombes, Anne, Catarino, Claudia B., Diodato, Daria, Schottmann, Gudrun, Poulton, Joanna, Burlina, Alberto, Jonckheere, An, Munnich, Arnold, Rolinski, Boris, Ghezzi, Daniele, Rokicki, Dariusz, Wellesley, Diana, Martinelli, Diego, Ding, Wenhong, Lamantea, Eleonora, Ostergaard, Elsebet, Pronicka, Ewa, Pierre, Germaine, Smeets, Hubert J. M., Wittig, Ilka, Scurr, Ingrid, de Coo, Irenaeus F. M., Moroni, Isabella, Smet, Joel, Mayr, Johannes A., Dai, Lifang, de Meirleir, Linda, Schuelke, Markus, Zeviani, Massimo, Morscher, Raphael J., McFarland, Robert, Seneca, Sara, Klopstock, Thomas, Meitinger, Thomas, Wieland, Thomas, Strom, Tim M., Herberg, Ulrike, Ahting, Uwe, Sperl, Wolfgang, Nassogne, Marie-Cecile, Ling, Han, Fang, Fang, Freisinger, Peter, Van Coster, Rudy, Strecker, Valentina, Taylor, Robert W., Haberle, Johannes, Vockley, Jerry, Prokisch, Holger, Wortmann, Saskia
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 13(1), 120 (2018). doi:10.1186/s13023-018-0784-8
Orphanet Journal of Rare Diseases, Vol. 13, no. 1, p. 120 [1-10] (2018)
Orphanet journal of rare diseases
Repp, B M, Mastantuono, E, Alston, C L, Schiff, M, Haack, T B, Rötig, A, Ardissone, A, Lombès, A, Catarino, C B, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H J M, Wittig, I, Scurr, I, de Coo, I F M, Moroni, I, Smet, J, Mayr, J A, Dai, L, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R J, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T M, Herberg, U, Ahting, U, Sperl, W, Nassogne, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R W, Häberle, J, Vockley, J, Prokisch, H & Wortmann, S 2018, ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? ', Orphanet Journal of Rare Diseases, vol. 13, 120 . https://doi.org/10.1186/s13023-018-0784-8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet J. Rare Dis. 13:120 (2018)
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd
Orphanet journal of rare diseases 13(1), 120 (2018). doi:10.1186/s13023-018-0784-8
Orphanet Journal of Rare Diseases, Vol. 13, no. 1, p. 120 [1-10] (2018)
Orphanet journal of rare diseases
Repp, B M, Mastantuono, E, Alston, C L, Schiff, M, Haack, T B, Rötig, A, Ardissone, A, Lombès, A, Catarino, C B, Diodato, D, Schottmann, G, Poulton, J, Burlina, A, Jonckheere, A, Munnich, A, Rolinski, B, Ghezzi, D, Rokicki, D, Wellesley, D, Martinelli, D, Wenhong, D, Lamantea, E, Ostergaard, E, Pronicka, E, Pierre, G, Smeets, H J M, Wittig, I, Scurr, I, de Coo, I F M, Moroni, I, Smet, J, Mayr, J A, Dai, L, de Meirleir, L, Schuelke, M, Zeviani, M, Morscher, R J, McFarland, R, Seneca, S, Klopstock, T, Meitinger, T, Wieland, T, Strom, T M, Herberg, U, Ahting, U, Sperl, W, Nassogne, M-C, Ling, H, Fang, F, Freisinger, P, Van Coster, R, Strecker, V, Taylor, R W, Häberle, J, Vockley, J, Prokisch, H & Wortmann, S 2018, ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency : is riboflavin supplementation effective? ', Orphanet Journal of Rare Diseases, vol. 13, 120 . https://doi.org/10.1186/s13023-018-0784-8
ORPHANET JOURNAL OF RARE DISEASES
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd.
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-10 (2018)
Orphanet J. Rare Dis. 13:120 (2018)
Orphanet Journal of Rare Diseases, 13:120. BioMed Central Ltd
Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is essential for the assembly of mitochondrial respiratory chain complex I. Disease causing biallelic variants in ACAD9 have been reported in individuals presenting with lactic a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bd4bd868f15234ec3bf494d814fdaf2e
https://pubmed.ncbi.nlm.nih.gov/30025539
https://pubmed.ncbi.nlm.nih.gov/30025539
Publikováno v:
PLoS ONE, Vol 9, Iss 11, p e113070 (2014)
PLoS ONE
PLOS ONE 9(11), e113070 (2014). doi:10.1371/journal.pone.0113070
PLoS ONE
PLOS ONE 9(11), e113070 (2014). doi:10.1371/journal.pone.0113070
Progressive Supranuclear Palsy (PSP) is a neurodegenerative disorder characterised by intracellular aggregation of the microtubule-associated protein tau. The tau protein exists in 6 predominant isoforms. Depending on alternative splicing of exon 10,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c2cd32c11ae6eea5b24e9057485d7d2
http://europepmc.org/articles/PMC4234644?pdf=render
http://europepmc.org/articles/PMC4234644?pdf=render