A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. (Q28345777)

4 July 2017

title

A novel syndrome affecting multiple mitochondrial functions, located by microcell-mediated transfer to chromosome 2p14-2p13. (English)

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4 July 2017

A Seyda

1

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4 July 2017

R F Newbold

2

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4 July 2017

T J Hudson

3

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4 July 2017

A Verner

4

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4 July 2017

N MacKay

5

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4 July 2017

S Winter

6

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4 July 2017

A Feigenbaum

7

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4 July 2017

S Malaney

8

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4 July 2017

D Gonzalez-Halphen

9

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4 July 2017

A P Cuthbert

10

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4 July 2017

B H Robinson

11

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4 July 2017

language of work or name

English

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publication date

10 January 2001

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American Journal of Human Genetics

4 July 2017

published in

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4 July 2017

volume

68

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4 July 2017

issue

2

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4 July 2017

page(s)

386-396

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The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins

4 July 2017

cites work

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A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency

20 March 2017

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Human deafness dystonia syndrome is a mitochondrial disease

20 March 2017

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Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

20 March 2017

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Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

20 March 2017

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A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness

20 March 2017

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Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

20 March 2017

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Comparison of the cytochrome bc1 complex with the anticipated structure of the cytochrome b6f complex: Le plus ça change le plus c'est la même chose

20 March 2017

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Mechanisms of human mitochondrial DNA maintenance: the determining role of primary sequence and length over function

29 September 2017

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Mechanisms of expression of pyruvate dehydrogenase deficiency caused by an E1alpha subunit mutation

29 September 2017

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The ATPase and protease domains of yeast mitochondrial Lon: roles in proteolysis and respiration-dependent growth

29 September 2017

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A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency.

29 September 2017

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Diagnosis of complex I deficiency in patients with lactic acidemia using skin fibroblast cultures.

29 September 2017

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Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase

29 September 2017

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An immortalized human fibroblast cell line is permissive for human cytomegalovirus infection

29 September 2017

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Molecular basis of mitochondrial DNA disease

29 September 2017

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A general high-efficiency procedure for production of microcell hybrids

29 September 2017

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Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

29 September 2017

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Pyruvate dehydrogenase complex activity in normal and deficient fibroblasts

29 September 2017

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Defective intramitochondrial NADH oxidation in skin fibroblasts from an infant with fatal neonatal lacticacidemia

29 September 2017

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Deficiency of the reduced nicotinamide adenine dinucleotide dehydrogenase component of complex I of mitochondrial electron transport. Fatal infantile lactic acidosis and hypermetabolism with skeletal-cardiac myopathy and encephalopathy

29 September 2017

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29 September 2017

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The Nuclear ABC1 Gene is Essential for the Correct Conformation and Functioning of the Cytochrome bc1 Complex and the Neighbouring Complexes II and IV in the Mitochondrial Respiratory Chain

29 September 2017

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2 June 2018

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Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication

2 June 2018

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"Cerebral" lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis

2 June 2018

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Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular genetics

2 June 2018

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The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia

2 June 2018

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Subunit structures of purified beef mitochondrial cytochrome bc1 complex from liver and heart

2 June 2018

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Construction and characterization of a highly stable human:rodent monochromosomal hybrid panel for genetic complementation and genome mapping studies

27 November 2018

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Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease

27 November 2018

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Physical mapping of human chromosome 17 using fragment-containing microcell hybrids

27 November 2018

1 reference

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Clinical and molecular heterogeneity of cytochrome c oxidase deficiency in the newborn

27 November 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Influence of aging on protein import into cardiac mitochondria

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Spectrophotometric measurements of the enzymatic formation of fumaric and cis-aconitic acids

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Assembly of the Rieske iron-sulphur protein into the cytochrome bf complex in thylakoid membranes of isolated pea chloroplasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Superoxides from mitochondrial complex III: the role of manganese superoxide dismutase

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Preparation and properties of succinate: ubiquinone oxidoreductase (complex II)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Quantitative resolution of succinate-cytochrome c reductase into succinate-ubiquinone and ubiquinol-cytochrome c reductases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Revised assays for the investigation of congenital lactic acidosis using 14C keto acids, eliminating problems associated with spontaneous decarboxylation

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Defects in the cytochrome bc1 complex in mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Mitochondrial diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/11156534

12 December 2020

Identifiers

DOI

10.1086/318196

1 reference

release_birtozp2ojcllcsvkygekznhim

4 July 2017

Fatcat ID

0 references

OpenCitations bibliographic resource ID

582440

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference