Zobrazeno 1 - 10
of 52
pro vyhledávání: '"mitochondrial aminoacyl-tRNA synthetase"'
Autor:
Ekaterina Kazakova, José Alberto Téllez-Martínez, Leonardo Flores-Lagunes, Ana Luisa Sosa-Ortiz, Karol Carillo-Sánchez, Carolina Molina-Garay, Carlos Alberto González-Domínguez, Marco Jimenez-Olivares, Francisca Fernandez-Valverde, Edwin Steven Vargas-Cañas, Martha Elisa Vázquez-Memije, Ethel Awilda Garcia-Latorre, Iván Martínez-Duncker, Carmen Alaez-Verson
Publikováno v:
Frontiers in Neurology, Vol 14 (2023)
ObjectivesTo report the first Mexican case with two novel AARS2 mutations causing primary ovarian failure, uterus infantilis, and early-onset dementia secondary to leukoencephalopathy.MethodsDetailed clinical, clinimetric, neuroimaging features, musc
Externí odkaz:
https://doaj.org/article/b02bf00be7fb4cff8b05a4456c936262
Autor:
Aaisha Al Balushi, Diana Matviychuk, Rebekah Jobling, Gajja S. Salomons, Susan Blaser, Saadet Mercimek‐Andrews
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 3-10 (2020)
Abstract Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl‐tRNA synthetase deficiencies diagnosed in a sing
Externí odkaz:
https://doaj.org/article/1dc2dec5e0894b1488610e5e3b2c5e5a
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Mitochondria are one of the most important organelles in cells. Mitochondria are semi-autonomous organelles with their own genetic system, and can independently replicate, transcribe, and translate mitochondrial DNA. Translation initiation, elongatio
Externí odkaz:
https://doaj.org/article/d9a21956e07a493db6cedfc2fbe0d807
Autor:
Elise Vantroys, Joél Smet, Arnaud V. Vanlander, Sarah Vergult, Ruth De Bruyne, Frank Roels, Hedwig Stepman, Herbert Roeyers, Björn Menten, Rudy Van Coster
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)
Abstract Background The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phe
Externí odkaz:
https://doaj.org/article/c03422226e3b403eb6c94ac47af03afc
Akademický článek
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Akademický článek
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Autor:
Mads Bak, Nelsan Pourhadi, Christian Stenör, Sabine Grønborg, Tobias Melton Axelsen, Tzvetelina Lubenova Vammen
Publikováno v:
Molecular Genetics and Metabolism Reports
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Axelsen, T M, Vammen, T L, Bak, M, Pourhadi, N, Stenør, C M & Grønborg, S 2021, ' Case report : ‘AARS2 leukodystrophy’ ', Molecular Genetics and Metabolism Reports, vol. 28, 100782 . https://doi.org/10.1016/j.ymgmr.2021.100782
Molecular Genetics and Metabolism Reports, Vol 28, Iss, Pp 100782-(2021)
Background Mitochondrial alanyl-tRNA synthetase 2 gene (AARS2) related disease is a rare genetic disorder affecting mitochondrial metabolism, leading to severe cardiac disease in infants or progressive leukodystrophy in young adults. The disease is c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6730500e70bef47a36c79058dc129030
http://europepmc.org/articles/PMC8280508
http://europepmc.org/articles/PMC8280508
Autor:
Diana Matviychuk, Gajja S. Salomons, Aaisha Al Balushi, Saadet Mercimek-Andrews, Susan Blaser, Rebekah Jobling
Publikováno v:
JIMD Reports, 51(1), 3-10. Springer Berlin
Al Balushi, A, Matviychuk, D, Jobling, R, Salomons, G S, Blaser, S & Mercimek-Andrews, S 2020, ' Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic ', JIMD Reports, vol. 51, no. 1, pp. 3-10 . https://doi.org/10.1002/jmd2.12079
JIMD Reports, Vol 51, Iss 1, Pp 3-10 (2020)
JIMD Reports
JIMD reports, 51(1), 3-10. Springer Berlin
Al Balushi, A, Matviychuk, D, Jobling, R, Salomons, G S, Blaser, S & Mercimek-Andrews, S 2020, ' Phenotypes and genotypes of mitochondrial aminoacyl-tRNA synthetase deficiencies from a single neurometabolic clinic ', JIMD Reports, vol. 51, no. 1, pp. 3-10 . https://doi.org/10.1002/jmd2.12079
JIMD Reports, Vol 51, Iss 1, Pp 3-10 (2020)
JIMD Reports
JIMD reports, 51(1), 3-10. Springer Berlin
Mitochondrial aminoacyl‐tRNA synthetases play a major role in protein translation, synthesis, and oxidative phosphorylation. We reviewed all patients diagnosed with mitochondrial aminoacyl‐tRNA synthetase deficiencies diagnosed in a single neurom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c79529dd261d721908c066ecd7c479
https://research.vumc.nl/en/publications/fd4c0291-849f-472d-88fd-a74ec5709fe4
https://research.vumc.nl/en/publications/fd4c0291-849f-472d-88fd-a74ec5709fe4
Autor:
Michael A. Swanson, Austin Larson, Kaz M. Knight, Björn Menten, Johan L.K. Van Hove, Joél Smet, Christopher A. Powell, Marisa W. Friederich, Rudy Van Coster, Sara Seneca, Herbert Roeyers, Arnaud Vanlander, Boel De Paepe, Sarah Vergult, Michal Minczuk, Elise Vantroys
Publikováno v:
MOLECULAR GENETICS AND METABOLISM
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism
Mutations in FARS2 are known to cause dysfunction of mitochondrial translation due to deficient aminoacylation of the mitochondrial phenylalanine tRNA. Here, we report three novel mutations in FARS2 found in two patients in a compound heterozygous st
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a60a286b8eb5d30c4f5761f4b8b1418
https://doi.org/10.1016/j.ymgme.2017.10.004
https://doi.org/10.1016/j.ymgme.2017.10.004
Kniha
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