Zobrazeno 1 - 10
of 33
pro vyhledávání: '"TTC19"'
Autor:
Parham Habibzadeh, Soroor Inaloo, Mohammad Silawi, Hassan Dastsooz, Mohammad Ali Farazi Fard, Forough Sadeghipour, Zahra Faghihi, Mohaddeseh Rezaeian, Majid Yavarian, Johann Böhm, Mohammad Ali Faghihi
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Mitochondrial complex III deficiency nuclear type 2 is an autosomal-recessive disorder caused by mutations in TTC19 gene. TTC19 is involved in the preservation of mitochondrial complex III, which is responsible for transfer of electrons from reduced
Externí odkaz:
https://doaj.org/article/d312bc71ba574865a1c9b67a15653618
Autor:
Laura eMelchionda, Nadirah S Damseh, Bassam Y Abu Libdeh, Alessia eNasca, Orly eElpeleg, Alice eZanolini, Daniele eGhezzi
Publikováno v:
Frontiers in Genetics, Vol 5 (2014)
Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2 and LYRM7), whe
Externí odkaz:
https://doaj.org/article/fbefafdb8e38451289aae80a1356032c
Publikováno v:
Cell Cycle. 17:681-687
Regulation of the mitochondrial respiratory chain biogenesis is a matter of great interest because of its implications for mitochondrial disease. One of the mitochondrial disease genes recently discovered associated to encephalopathy and mitochondria
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1171a395fbe8323d30e87748eae0b19
https://doi.org/10.1080/15384101.2017.1417707
https://doi.org/10.1080/15384101.2017.1417707
Akademický článek
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Autor:
Bottani, Emanuela, Cerutti, Raffaele, Harbour, Michael E, Ravaglia, Sabrina, Dogan, Sukru Anil, Giordano, Carla, Fearnley, Ian M, D'Amati, Giulia, Viscomi, Carlo, Fernandez-Vizarra, Erika, Zeviani, Massimo
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1697ea06cae901e2d5a254f0405fa6
Autor:
Raffaele Cerutti, Carla Giordano, Sabrina Ravaglia, Giulia d'Amati, Erika Fernandez-Vizarra, Massimo Zeviani, Carlo Viscomi, Sukru Anil Dogan, Ian M. Fearnley, Michael E. Harbour, Emanuela Bottani
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0126252c0feaee3a529363b23188c
http://hdl.handle.net/11577/3458980
http://hdl.handle.net/11577/3458980
Akademický článek
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Autor:
Koch, J., Freisinger, P., Feichtinger, R.G., Zimmermann, F.A., Rauscher, C., Wagentristl, H.P., Konstantopoulou, V., Seidl, R., Haack, T.B., Prokisch, H., Ahting, U., Sperl, W., Mayr, J.A., Maier, E.M.
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet J. Rare Dis. 10:40 (2015)
Orphanet J. Rare Dis. 10:40 (2015)
BACKGROUND: TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far. METHODS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ab01dd5c401e0f0d99ca4b96da89be5e
https://pubmed.ncbi.nlm.nih.gov/25887401
https://pubmed.ncbi.nlm.nih.gov/25887401
Akademický článek
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Autor:
Piazzesi, Antonia Felicia
Drosophila melanogaster has a long history of being used as an animal model for a wide variety of human diseases, including genetic diseases, neurodegeneration and alcoholism. Despite the fact that Drosophila was first used as an animal model over 10
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d42c253a52decb4094a7464682033ae2
http://hdl.handle.net/11577/3423704
http://hdl.handle.net/11577/3423704