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CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome.
Luna-Sánchez M, Hidalgo-Gutiérrez A, Hildebrandt TM, Chaves-Serrano J, Barriocanal-Casado E, Santos-Fandila Á, Romero M, Sayed RK, Duarte J, Prokisch H, Schuelke M, Distelmaier F, Escames G, Acuña-Castroviejo D, López LC. Luna-Sánchez M, et al. Among authors: distelmaier f. EMBO Mol Med. 2017 Jan;9(1):78-95. doi: 10.15252/emmm.201606345. EMBO Mol Med. 2017. PMID: 27856619 Free PMC article.
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration.
Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F. Holzerova E, et al. Among authors: distelmaier f. Brain. 2016 Feb;139(Pt 2):346-54. doi: 10.1093/brain/awv350. Epub 2015 Dec 1. Brain. 2016. PMID: 26626369
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB. Kremer LS, et al. Among authors: distelmaier f. Am J Hum Genet. 2016 Feb 4;98(2):358-62. doi: 10.1016/j.ajhg.2015.12.009. Epub 2016 Jan 21. Am J Hum Genet. 2016. PMID: 26805782 Free PMC article.
The many faces of paediatric mitochondrial disease on neuroimaging.
Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F. Baertling F, et al. Among authors: distelmaier f. Childs Nerv Syst. 2016 Nov;32(11):2077-2083. doi: 10.1007/s00381-016-3190-3. Epub 2016 Jul 23. Childs Nerv Syst. 2016. PMID: 27449766 Review.
Neonatal encephalocardiomyopathy caused by mutations in VARS2.
Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F. Baertling F, et al. Among authors: distelmaier f. Metab Brain Dis. 2017 Feb;32(1):267-270. doi: 10.1007/s11011-016-9890-2. Epub 2016 Aug 8. Metab Brain Dis. 2017. PMID: 27502409
137 results