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Cites articles 32

Date

Title

Authors

2015-03-13

Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature

Andrea Legati, Daria Diodato, Eleonora Lamantea, Barbara Garavaglia, Daniele Ghezzi, Isabella Moroni
2015-04-09

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

Massimo Zeviani
2015-04-02

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

Johannes A Mayr, Holger Prokisch
2015-03-04

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Richard J Rodenburg, Lambert P van den Heuvel, Jan A M Smeitink, Saskia B Wortmann
2014-08-28

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Thomas Meitinger, Anna Ardissone, Daria Diodato, Erika Fernandez-Vizarra, Eleonora Lamantea, Daniele Ghezzi, Rosalba Carrozzo, Richard J Rodenburg, Enrico Bertini, Silvia Marchet, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Graziella Uziel, Isabella Moroni, Maurizio Moggio, Robert William Taylor, Isabella Moroni, Tobias B Haack, Tim M Strom, Laura Melchionda, Truus E M Abbink, Marjo van der Knaap, Steven J Hardy
2014-05-28

Mitochondrial dysfunction in central nervous system white matter disorders

Anna Ardissone, Albert Bellart, Aurora Pujol, Enrico Bertini, Graziella Uziel, Isidro Ferrer, Laia Morató
2013-08-01

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia

Pauline Gaignard, Aurélien Bayot, Sandra T Cooper, Nigel G Laing, David Thorburn, John Christodoulou, Lisa G Riley, Minal Menezes, Richard Allcock
2013-09-23

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

Cristina Dallabona, Federica Invernizzi, Claudia Donnini, Daniele Ghezzi, Massimo Zeviani, Costanza Lamperti
2013-04-03

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

Adeline Vanderver, Nicole I Wolf, Richard J Rodenburg, Peter Heutink, Carola G M van Berkel, Truus E M Abbink
2013-01-29

Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.

Yoshinori Tsurusaki, Hirotomo Saitsu
2013-03-28

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Célia Nogueira, Maria José Sá, Luisa Azevedo, Ricardo Taipa, Claudia Nesti, Rosalba Carrozzo, Manuel Melo Pires, Laura Vilarinho, Filippo Maria Santorelli
2012-01-01

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

Elena J Tucker
2012-11

Late-stage maturation of the Rieske Fe/S protein: Mzm1 stabilizes Rip1 but does not facilitate its translocation by the AAA ATPase Bcs1
2012-11-17

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

Massimo Zeviani
2012-04-04

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.

Daniele Ghezzi, Enrico Bertini, Eugenio Grillo, Luísa Diogo, Holger Prokisch, Massimo Zeviani, Carola G M van Berkel, Truus E M Abbink
2011-10

The LYR protein Mzm1 functions in the insertion of the Rieske Fe/S protein in yeast mitochondria
2011-03

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Massimo Zeviani, Costanza Lamperti, Pio D'Adamo, Daniele Ghezzi, Clara Benna, Daria Diodato, Graziella Uziel, Caterina Mariotti
2011-11-22

Biogenesis of the cytochrome bc(1) complex and role of assembly factors.
2010-06-18

Mzm1 influences a labile pool of mitochondrial zinc important for respiratory function
2010-03-02

In vivo analysis of mtDNA replication defects in yeast.
2009-03-04

Functional study in a yeast model of a novel succinate dehydrogenase subunit B gene germline missense mutation (C191Y) diagnosed in a patient affected by a glomus tumor

Paola Goffrini, Massimo Mannelli
2009-09-06

Synthesis of cytochrome c oxidase subunit 1 is translationally downregulated in the absence of functional F1F0-ATP synthase
2008-04-24

Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ

Ohad Birk, Ann Saada
2008-09-09

MitoP2: an integrative tool for the analysis of the mitochondrial proteome

Igor V. Tetko, Thomas Meitinger, Holger Prokisch, Thomas Klopstock, Christophe Andreoli, Uwe Ahting, Matthias Elstner
2007-04

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Ingeborg Krägeloh-Mann, Joél Smet, Graziella Uziel, Gert C Scheper, Carola G M van Berkel
2003-08-30

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene,Clinical and diagnostic characteristics of complex III deficiency due to mutations in theBCS1Lgene

Willy Lissens
2003-09-25

Mutational analysis of BRAF and K-ras in gastric cancers: absence of BRAF mutations in gastric cancers

Jae-Gahb Park, Ja-Lok Ku
2002-04-01

Blue Native electrophoresis to study mitochondrial and other protein complexes

Ian Holt
2001-09-01

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

Marina S. Gorbatyuk, Jan Taanman, Agnès Rötig
1998-07-03

Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex
1994-02-01

Protease maturation of the Rieske iron-sulphur protein after its insertion into the mitochondrial cytochrome bc1 complex of Saccharomyces cerevisiae

Ulrich Brandt
1989-12

High efficiency transformation of intact yeast cells using single stranded nucleic acids as a carrier

Article - wd:Q39970753

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