(Q24315627)

GOA release 2020-03-11

author

Holger Prokisch

24

0 references

Valeria Tiranti

27

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Sebastiano Pasqualato

6

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Henry Houlden

19

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Nardo Nardocci

23

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Lorella Valletta

2

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Sabrina Dusi

Sabrina Dusi

1

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Federica Invernizzi

Federica Invernizzi

13

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Paola Goffrini

Paola Goffrini

7

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Luisa Chiapparini

Luisa Chiapparini

20

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Barbara Garavaglia

Barbara Garavaglia

14

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author name string

Tobias B Haack

3

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Yugo Tsuchiya

4

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Paola Venco

5

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Marco Tigano

8

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Nikita Demchenko

9

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Thomas Wieland

10

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Thomas Schwarzmayr

11

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Tim M Strom

12

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Allison Gregory

15

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Lynn Sanford

16

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Jeffrey Hamada

17

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Conceição Bettencourt

18

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Giovanna Zorzi

21

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Manju A Kurian

22

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Susan Hayflick

25

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Ivan Gout

American Journal of Human Genetics

26

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language of work or name

English

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publication date

2 January 2014

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published in

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volume

94

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page(s)

11-22

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issue

1

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cites work

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Identification and characterization of the gene encoding the human phosphopantetheine adenylyltransferase and dephospho-CoA kinase bifunctional enzyme (CoA synthase)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Complete reconstitution of the human coenzyme A biosynthetic pathway via comparative genomics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Compartmentalization of mammalian pantothenate kinases

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Germline deletion of pantothenate kinases 1 and 2 reveals the key roles for CoA in postnatal metabolism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Genetics of neurodegeneration with brain iron accumulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Identification of critical residues of the mycobacterial dephosphocoenzyme a kinase by site-directed mutagenesis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Genetic analysis of coenzyme A biosynthesis in the yeast Saccharomyces cerevisiae: identification of a conditional mutation in the pantothenate kinase gene CAB1.

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Toward the complete yeast mitochondrial proteome: multidimensional separation techniques for mitochondrial proteomics

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Specific interaction between S6K1 and CoA synthase: a potential link between the mTOR/S6K pathway, CoA biosynthesis and energy metabolism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

A novel pantothenate kinase gene (PANK2) is defective in Hallervorden-Spatz syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Neuroimaging features of neurodegeneration with brain iron accumulation.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Insights into the regulatory characteristics of the mycobacterial dephosphocoenzyme A kinase: implications for the universal CoA biosynthesis pathway

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Drosophila phosphopantothenoylcysteine synthetase is required for tissue morphogenesis during oogenesis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Different Rates of Spontaneous Mutation during Mitosis and Meiosis in Yeast

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Identification of a novel CoA synthase isoform, which is primarily expressed in the brain

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Neurodegeneration with brain iron accumulation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Coenzyme A: back in action

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Subcellular Localization and Regulation of Coenzyme A Synthase

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Pantothenic acid in health and disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Proteomic mapping of mitochondria in living cells via spatially restricted enzymatic tagging.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Molecular cloning and characterization of FBXO47, a novel gene containing an F-box domain, located in the 17q12 band deleted in papillary renal cell carcinoma

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Regulation of coenzyme A biosynthesis by glucagon and glucocorticoid in adult rat liver parenchymal cells

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

De novo CoA biosynthesis is required to maintain DNA integrity during development of the Drosophila nervous system.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Pantothenate kinase regulation of the intracellular concentration of coenzyme A.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

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

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3882905

Isolation of mitochondria for biogenetical studies: An update.

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360804

12 December 2020

inferred from PubMed ID database lookup

Isolation of highly purified mitochondria from Saccharomyces cerevisiae

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360804

12 December 2020

inferred from PubMed ID database lookup

Quick and easy yeast transformation using the LiAc/SS carrier DNA/PEG method

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24360804

12 December 2020

inferred from PubMed ID database lookup

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.11.008

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2013.11.008

1 reference

3995012

3995012

1 reference

1 reference

1 reference