Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy (Q42626335)

4 November 2017

title

Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy (English)

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4 November 2017

Gittan Kollberg

1

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4 November 2017

Már Tulinius

2

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4 November 2017

Atle Melberg

3

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4 November 2017

Niklas Darin

4

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4 November 2017

Oluf Andersen

5

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4 November 2017

Daniel Holmgren

6

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4 November 2017

Anders Oldfors

7

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4 November 2017

Elisabeth Holme

8

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4 November 2017

language of work or name

English

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publication date

30 June 2009

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4 November 2017

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4 November 2017

volume

132

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4 November 2017

issue

Pt 8

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4 November 2017

page(s)

2170-2179

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Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications

4 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Advancements in the pathophysiology of Friedreich's Ataxia and new prospects for treatments.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Measurement of cytochromes in human skeletal muscle mitochondria, isolated from fresh and frozen stored muscle specimens

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Influence of RNA secondary structure on the pre-mRNA splicing process

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

RNA structure is a key regulatory element in pathological ATM and CFTR pseudoexon inclusion events

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Hereditary myopathy with lactic acidosis, succinate dehydrogenase and aconitase deficiency in northern Sweden: a genealogical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Cardiomyopathy in children with mitochondrial disease; clinical course and cardiological findings

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

The action of digitonin on rat liver mitochondria. The effects on enzyme content

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

A modular domain of NifU, a nitrogen fixation cluster protein, is highly conserved in evolution

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Nonsense-mediated mRNA decay in mammals

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Genomic variants in exons and introns: identifying the splicing spoilers

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Iron-sulfur cluster biogenesis and human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Evidence for a conserved system for iron metabolism in the mitochondria of Saccharomyces cerevisiae

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Multiple splicing defects in an intronic false exon

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Distinct iron-sulfur cluster assembly complexes exist in the cytosol and mitochondria of human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Functions of mitochondrial ISCU and cytosolic ISCU in mammalian iron-sulfur cluster biogenesis and iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Interplay of IscA and IscU in biogenesis of iron-sulfur clusters.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

Mfold web server for nucleic acid folding and hybridization prediction

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWP152

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWP152

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4 November 2017

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