Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects. (Q39024278)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26804654%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

title

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects (English)

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6 March 2020

2

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6 March 2020

Hana Nůsková

3

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6 March 2020

Marek Vrbacký

4

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6 March 2020

Tomáš Mráček

6

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6 March 2020

5

Massimo Zeviani

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6 March 2020

7

Carlo Viscomi

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6 March 2020

author name string

Nikola Kovářová

1

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6 March 2020

Josef Houštěk

8

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6 March 2020

language of work or name

English

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publication date

13 January 2016

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Biochimica et Biophysica Acta

6 March 2020

published in

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6 March 2020

volume

1862

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6 March 2020

page(s)

705-715

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6 March 2020

issue

4

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Long survival in Leigh syndrome: new cases and review of literature

6 March 2020

cites work

1 reference

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Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

9 September 2017

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Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency.

9 September 2017

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A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

9 September 2017

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Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase

9 September 2017

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The function of the respiratory supercomplexes: the plasticity model

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Functional role of mitochondrial respiratory supercomplexes

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Structures of mitochondrial oxidative phosphorylation supercomplexes and mechanisms for their stabilisation

9 September 2017

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The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturation

9 September 2017

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Supercomplex assembly determines electron flux in the mitochondrial electron transport chain

9 September 2017

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NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease.

9 September 2017

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hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.

9 September 2017

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COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux

9 September 2017

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MITRAC links mitochondrial protein translocation to respiratory-chain assembly and translational regulation

9 September 2017

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Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions

9 September 2017

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NDUFA4 is a subunit of complex IV of the mammalian electron transport chain

9 September 2017

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Mitochondrial complex I plays an essential role in human respirasome assembly

9 September 2017

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Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis

9 September 2017

1 reference

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Role of Surf1 in heme recruitment for bacterial COX biogenesis

9 September 2017

1 reference

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LRPPRC mutation suppresses cytochrome oxidase activity by altering mitochondrial RNA transcript stability in a mouse model

9 September 2017

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A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy

9 September 2017

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Humans possess two mitochondrial ferredoxins, Fdx1 and Fdx2, with distinct roles in steroidogenesis, heme, and Fe/S cluster biosynthesis

9 September 2017

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Assembly factors and ATP-dependent proteases in cytochrome c oxidase biogenesis

9 September 2017

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Redox regulation of SCO protein function: controlling copper at a mitochondrial crossroad

9 September 2017

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Formation of the redox cofactor centers during Cox1 maturation in yeast cytochrome oxidase.

9 September 2017

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Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis

9 September 2017

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Knockdown of human COX17 affects assembly and supramolecular organization of cytochrome c oxidase

9 September 2017

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Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

9 September 2017

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Shy1 couples Cox1 translational regulation to cytochrome c oxidase assembly

9 September 2017

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9 September 2017

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9 September 2017

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Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1

9 September 2017

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Assembly of cytochrome-c oxidase in the absence of assembly protein Surf1p leads to loss of the active site heme

9 September 2017

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Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase

9 September 2017

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Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1

9 September 2017

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

9 September 2017

1 reference

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Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy

9 September 2017

1 reference

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Respiratory chain supercomplexes of mitochondria and bacteria

9 September 2017

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Cytochrome c oxidase deficiency

9 September 2017

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Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase

9 September 2017

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Supercomplexes in the respiratory chains of yeast and mammalian mitochondria

9 September 2017

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Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency

9 September 2017

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

9 September 2017

1 reference

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9 September 2017

The human Surfeit locus

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Assembly of cytochrome-c oxidase in cultured human cells

9 September 2017

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Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs

9 September 2017

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9 September 2017

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Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form

9 September 2017

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9 September 2017

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Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations

9 September 2017

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Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome

9 September 2017

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Respiratory active mitochondrial supercomplexes.

14 September 2017

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Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.

14 September 2017

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Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses

14 September 2017

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A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.

17 June 2018

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Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.

17 June 2018

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SURF1 missense mutations promote a mild Leigh phenotype.

21 August 2018

1 reference

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Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.

21 August 2018

1 reference

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Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits.

21 August 2018

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High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.

21 August 2018

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Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.

21 August 2018

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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.

21 August 2018

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Novel insights into the assembly and function of human nuclear-encoded cytochromecoxidase subunits 4, 5a, 6a, 7a and 7b

21 August 2018

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Maternal Segmental Disomy in Leigh Syndrome with Cytochrome c Oxidase Deficiency Caused by Homozygous SURF1 Mutation

2 December 2018

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Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity

2 December 2018

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle

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Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

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12 December 2020

Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria

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12 December 2020

SURF1-associated Leigh syndrome: a case series and novel mutations

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DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26804654%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

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6 March 2020

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