Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy (Q38875336)

7 September 2017

title

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy (English)

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7 September 2017

6

Jean-Hubert Caberg

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Vincent Bours

8

object named as

Vincent Bours

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Roland Lill

12

object named as

Roland Lill

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7 September 2017

Claire Josse

5

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François Boemer

object named as

François Boemer

7

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author name string

François-Guillaume Debray

1

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7 September 2017

Claudia Stümpfig

2

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7 September 2017

Arnaud V Vanlander

3

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7 September 2017

Vinciane Dideberg

4

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7 September 2017

Jean-Hubert Caberg

6

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7 September 2017

René Stevens

9

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7 September 2017

Sara Seneca

10

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7 September 2017

Joél Smet

11

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7 September 2017

Rudy van Coster

13

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7 September 2017

publication date

14 May 2015

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Journal of Inherited Metabolic Disease

7 September 2017

published in

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7 September 2017

volume

38

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7 September 2017

issue

6

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7 September 2017

page(s)

1147-1153

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

7 September 2017

cites work

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https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Function and biogenesis of iron-sulphur proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

A toolkit for graded expression of green fluorescent protein fusion proteins in mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

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%2FS10545-015-9857-1

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%2FS10545-015-9857-1

Mitochondrial iron-sulfur protein biogenesis and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Crystal structure of the YgfZ protein from Escherichia coli suggests a folate-dependent regulatory role in one-carbon metabolism.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Blue native polyacrylamide gel electrophoresis: a powerful tool in diagnosis of oxidative phosphorylation defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Lactic acidosis in a newborn with adrenal calcifications

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Leukoencephalopathy with cysts and hyperglycinemia may result from NFU1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-015-9857-1

Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25971455

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S10545-015-9857-1

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Dimensions Publication ID

7 September 2017

1010556464

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