(Q43688658)

25 November 2017

title

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome (English)

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25 November 2017

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10

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Maurizio Castellano

5

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author name string

Elena Panizza

1

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25 November 2017

Tonino Ercolino

2

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Luigi Mori

3

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Elena Rapizzi

4

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Ileana Ferrero

7

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Hartmut P H Neumann

8

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publication date

21 November 2012

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25 November 2017

published in

Human Molecular Genetics

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25 November 2017

volume

22

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issue

4

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page(s)

804-815

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The Saccharomyces cerevisiae mitochondrial succinate:ubiquinone oxidoreductase

25 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

SDHA is a tumor suppressor gene causing paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Mitochondrial diseases and the role of the yeast models

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Succinate inhibition of alpha-ketoglutarate-dependent enzymes in a yeast model of paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

G12S and H50R variations are polymorphisms in the SDHD gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Mitochondrial DNA mutations in human cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

New heterologous modules for classical or PCR-based gene disruptions in Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

A family of low and high copy replicative, integrative and single-strandedS. cerevisiae/E. coli shuttle vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

In vivo analysis of mtDNA replication defects in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

The distribution of the numbers of mutants in bacterial populations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Fluctuation analysis CalculatOR: a web tool for the determination of mutation rate using Luria-Delbruck fluctuation analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Oxygen stress: a regulator of apoptosis in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Human non-synonymous SNPs: server and survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

Ubiquinone-binding Site Mutations in theSaccharomyces cerevisiaeSuccinate Dehydrogenase Generate Superoxide and Lead to the Accumulation of Succinate

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS487

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS487

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25 November 2017

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