Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance (Q24656037)

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

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instance of

scholarly article

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title

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

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author

Tanja Taivassalo

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6

object named as

Tanja Taivassalo

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Andrew Singleton

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8

object named as

Andrew Singleton

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Peter M Andersen

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7

object named as

Peter M Andersen

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Dena G. Hernandez

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4

object named as

Dena Hernandez

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author name string

Fanny Mochel

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1

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Melanie A Knight

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2

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Wing-Hang Tong

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3

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Karen Ayyad

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5

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Tracey A Rouault

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9

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Kenneth H Fischbeck

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10

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Ronald G Haller

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11

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language of work or name

English

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publication date

March 2008

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published in

American Journal of Human Genetics

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volume

82

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issue

3

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page(s)

652-60

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cites work

Lamin A-dependent nuclear defects in human aging

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

Aconitase and mitochondrial iron–sulphur protein deficiency in Friedreich ataxia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

Frataxin is essential for extramitochondrial Fe-S cluster proteins in mammalian tissues

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

Distinct binding specificities and functions of higher eukaryotic polypyrimidine tract-binding proteins

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

7 April 2017

Formation and properties of [4Fe-4S] clusters on the IscU scaffold protein

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

Iron-dependent degradation of apo-IRP1 by the ubiquitin-proteasome pathway

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

The structure and function of frataxin

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

The role of iron regulatory proteins in mammalian iron homeostasis and disease

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

Iron-sulphur cluster biogenesis and mitochondrial iron homeostasis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 September 2017

Selective iron chelation in Friedreich ataxia: biologic and clinical implications

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD).

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

Structural characterization of an iron-sulfur cluster assembly protein IscU in a zinc-bound form.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

Alternative splicing in disease and therapy

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

Decreased expression of genes involved in sulfur amino acid metabolism in frataxin-deficient cells.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427212

retrieved

28 November 2018

IscU as a Scaffold for Iron−Sulfur Cluster Biosynthesis: Sequential Assembly of [2Fe-2S] and [4Fe-4S] Clusters in IscU†

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18304497

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18304497

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18304497

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies in succinate dehydrogenase histochemistry

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18304497

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low succinate dehydrogenase (SDH) activity in a patient with a hereditary myopathy with paroxysmal myoglobinuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/18304497

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2007.12.012

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2794165

OpenCitations bibliographic resource ID

2794165

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2794165

PMC publication ID

2427212

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2794165

PubMed publication ID

18304497

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

2794165

ResearchGate publication ID

5546956

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