(Q34260163)

1 August 2017

title

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. (English)

1 reference

infantile cerebellar-retinal degeneration

1 August 2017

main subject

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1

Ronen Spiegel

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Ophry Pines

2

object named as

Ophry Pines

1 reference

1 August 2017

Ann Saada

10

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author name string

Asaf Ta-Shma

3

1 reference

1 August 2017

Efrat Burak

4

1 reference

1 August 2017

Avraham Shaag

5

1 reference

1 August 2017

Jonatan Halvardson

6

1 reference

1 August 2017

Shimon Edvardson

7

1 reference

1 August 2017

Muhammad Mahajna

8

1 reference

1 August 2017

Shamir Zenvirt

9

1 reference

1 August 2017

Stavit Shalev

11

1 reference

1 August 2017

Lars Feuk

12

1 reference

1 August 2017

Orly Elpeleg

13

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1 August 2017

language of work or name

English

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publication date

1 March 2012

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American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

90

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1 August 2017

issue

3

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1 August 2017

page(s)

518-523

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Clinical and biochemical heterogeneity associated with fumarase deficiency

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

The Sequence Alignment/Map format and SAMtools

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Neurodegeneration associated with genetic defects in phospholipase A(2).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Deficiency of the alpha subunit of succinate-coenzyme A ligase causes fatal infantile lactic acidosis with mitochondrial DNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Congenital disorders of glycosylation: a rapidly expanding disease family

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Yeast aconitase in two locations and two metabolic pathways: seeing small amounts is believing

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Regulation of mitochondrial NADP+-dependent isocitrate dehydrogenase activity by glutathionylation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Mitochondrial dysfunction and oxidative stress: cause and consequence of epileptic seizures

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Superoxide radical and iron modulate aconitase activity in mammalian cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

The distribution and properties of aconitase isozymes in man.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Metabolism unhinged: IDH mutations in cancer.

6 July 2018

1 reference

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The mitochondrial targeting sequence tilts the balance between mitochondrial and cytosolic dual localization.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3309186

Endogenous mitochondrial oxidative stress: neurodegeneration, proteomic analysis, specific respiratory chain defects, and efficacious antioxidant therapy in superoxide dismutase 2 null mice

28 October 2018

1 reference

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10.1016/J.AJHG.2012.01.009

28 October 2018

Identifiers

DOI

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1 August 2017

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1 August 2017

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