(Q44364030)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23179554%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

title

Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease (English)

1 reference

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18 February 2020

1 reference

13

1 reference

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18 February 2020

Xènia Ferrer-Cortès

1

1 reference

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18 February 2020

Leslie Matalonga

5

1 reference

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18 February 2020

author name string

Aida Font

2

1 reference

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18 February 2020

Núria Bujan

3

1 reference

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18 February 2020

Aleix Navarro-Sastre

4

1 reference

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18 February 2020

José Antonio Arranz

6

1 reference

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18 February 2020

Encarnació Riudor

7

1 reference

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18 February 2020

Mireia del Toro

8

1 reference

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18 February 2020

Angels Garcia-Cazorla

9

1 reference

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18 February 2020

Jaume Campistol

10

1 reference

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18 February 2020

Paz Briones

11

1 reference

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18 February 2020

Antonia Ribes

12

1 reference

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18 February 2020

publication date

22 November 2012

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23179554%20AND%20SRC:MED&resulttype=core&format=json

Journal of Inherited Metabolic Disease

18 February 2020

published in

1 reference

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18 February 2020

volume

36

1 reference

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18 February 2020

issue

5

1 reference

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18 February 2020

page(s)

841-847

1 reference

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https://scigraph.springernature.com/pub.10.1007/s10545-012-9565-z

18 February 2020

exact match

0 references

cites work

Iron-sulfur proteins: ancient structures, still full of surprises

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Self-sacrifice in radical S-adenosylmethionine proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Down-regulation of mitochondrial acyl carrier protein in mammalian cells compromises protein lipoylation and respiratory complex I and results in cell death

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Mitochondrial Iba57p is required for Fe/S cluster formation on aconitase and activation of radical SAM enzymes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Mitochondrial fatty acid synthesis and respiration

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Structure, function, and formation of biological iron-sulfur clusters

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Identification of human and mouse HIRA-interacting protein-5 (HIRIP5), two mammalian representatives in a family of phylogenetically conserved proteins with a role in the biogenesis of Fe/S proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Specialized function of yeast Isa1 and Isa2 proteins in the maturation of mitochondrial [4Fe-4S] proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Primary and secondary CoQ(10) deficiencies in humans

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Biogenesis of iron-sulfur clusters in mammalian cells: new insights and relevance to human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

The human mitochondrial ISCA1, ISCA2, and IBA57 proteins are required for [4Fe-4S] protein maturation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Human ISCA1 interacts with IOP1/NARFL and functions in both cytosolic and mitochondrial iron-sulfur protein biogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Mechanisms of mitochondrial diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-012-9565-Z

Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23179554

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-012-9565-Z

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23179554%20AND%20SRC:MED&resulttype=core&format=json

18 February 2020

1 reference