Product References
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate.
Cell reports
D'Angelo L,Astro E,De Luise M,Kurelac I,Umesh-Ganesh N,Ding S,Fearnley IM,Gasparre G,Zeviani M,Porcelli AM,Fernandez-Vizarra E,Iommarini L
Tue Apr 20 00:00:00 EDT 2021
Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV.
The EMBO journal
Protasoni M,Pérez-Pérez R,Lobo-Jarne T,Harbour ME,Ding S,Peñas A,Diaz F,Moraes CT,Fearnley IM,Zeviani M,Ugalde C,Fernández-Vizarra E
Mon Feb 03 00:00:00 EST 2020
Complex I mutations synergize to worsen the phenotypic expression of Leber's hereditary optic neuropathy.
The Journal of biological chemistry
Ji Y,Zhang J,Lu Y,Yi Q,Chen M,Xie S,Mao X,Xiao Y,Meng F,Zhang M,Yang R,Guan MX
Fri Sep 18 00:00:00 EDT 2020
miR-181a/b downregulation exerts a protective action on mitochondrial disease models.
EMBO molecular medicine
Indrieri A,Carrella S,Romano A,Spaziano A,Marrocco E,Fernandez-Vizarra E,Barbato S,Pizzo M,Ezhova Y,Golia FM,Ciampi L,Tammaro R,Henao-Mejia J,Williams A,Flavell RA,De Leonibus E,Zeviani M,Surace EM,Banfi S,Franco B
Wed May 01 00:00:00 EDT 2019
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Biochimica et biophysica acta. Molecular basis of disease
Di Nottia M,Montanari A,Verrigni D,Oliva R,Torraco A,Fernandez-Vizarra E,Diodato D,Rizza T,Bianchi M,Catteruccia M,Zeviani M,Dionisi-Vici C,Francisci S,Bertini E,Carrozzo R
Sat Apr 01 00:00:00 EDT 2017
Novel mutation in mitochondrial Elongation Factor EF-Tu associated to dysplastic leukoencephalopathy and defective mitochondrial DNA translation.
Biochimica et biophysica acta. Molecular basis of disease
Di Nottia M,Montanari A,Verrigni D,Oliva R,Torraco A,Fernandez-Vizarra E,Diodato D,Rizza T,Bianchi M,Catteruccia M,Zeviani M,Dionisi-Vici C,Francisci S,Bertini E,Carrozzo R
Sat Apr 01 00:00:00 EDT 2017
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.
Clinical genetics
Di Nottia M,Masciullo M,Verrigni D,Petrillo S,Modoni A,Rizzo V,Di Giuda D,Rizza T,Niceta M,Torraco A,Bianchi M,Santoro M,Bentivoglio AR,Bertini E,Piemonte F,Carrozzo R,Silvestri G
Sat Jul 01 00:00:00 EDT 2017
DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.
Clinical genetics
Di Nottia M,Masciullo M,Verrigni D,Petrillo S,Modoni A,Rizzo V,Di Giuda D,Rizza T,Niceta M,Torraco A,Bianchi M,Santoro M,Bentivoglio AR,Bertini E,Piemonte F,Carrozzo R,Silvestri G
Sat Jul 01 00:00:00 EDT 2017
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Clinical genetics
Torraco A,Bianchi M,Verrigni D,Gelmetti V,Riley L,Niceta M,Martinelli D,Montanari A,Guo Y,Rizza T,Diodato D,Di Nottia M,Lucarelli B,Sorrentino F,Piemonte F,Francisci S,Tartaglia M,Valente EM,Dionisi-Vici C,Christodoulou J,Bertini E,Carrozzo R
Wed Mar 01 00:00:00 EST 2017
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia.
Clinical genetics
Torraco A,Bianchi M,Verrigni D,Gelmetti V,Riley L,Niceta M,Martinelli D,Montanari A,Guo Y,Rizza T,Diodato D,Di Nottia M,Lucarelli B,Sorrentino F,Piemonte F,Francisci S,Tartaglia M,Valente EM,Dionisi-Vici C,Christodoulou J,Bertini E,Carrozzo R
Wed Mar 01 00:00:00 EST 2017
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
American journal of human genetics
van Rahden VA,Fernandez-Vizarra E,Alawi M,Brand K,Fellmann F,Horn D,Zeviani M,Kutsche K
Thu Apr 02 00:00:00 EDT 2015
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.
American journal of human genetics
van Rahden VA,Fernandez-Vizarra E,Alawi M,Brand K,Fellmann F,Horn D,Zeviani M,Kutsche K
Thu Apr 02 00:00:00 EDT 2015