(Q54396814)

English

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice.

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice. (English)

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

lactic acidosis

1 reference

based on heuristic

inferred from title

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based on heuristic

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author name string

Angelica Nordin

1

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

Elin Larsson

2

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

Lars-Eric Thornell

3

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

Monica Holmberg

4

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

publication date

17 December 2010

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

129

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Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

4

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

371-378

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Alternative splicing of Cyr61 is regulated by hypoxia and significantly changed in breast cancer

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Mitochondrial damage modulates alternative splicing in neuronal cells: implications for neurodegeneration

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

The yeast frataxin homolog Yfh1p plays a specific role in the maturation of cellular Fe/S proteins

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Grx5 is a mitochondrial glutaredoxin required for the activity of iron/sulfur enzymes

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Identification and characterization of Spinocerebellar Ataxia Type 7 (SCA7) isoform SCA7b in mice

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Knock-downs of Iron-Sulfur Cluster Assembly Proteins IscS and IscU Down-regulate the Active Mitochondrion of ProcyclicTrypanosoma brucei

1 reference

https://api.crossref.org/works/10.1007%2FS00439-010-0931-3

21 January 2018

Hereditary abnormal muscle metabolism with hyperkinetic circulation during exercise

1 reference

https://pubmed.ncbi.nlm.nih.gov/21165651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21165651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/21165651

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

https://pubmed.ncbi.nlm.nih.gov/21165651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect

1 reference

https://pubmed.ncbi.nlm.nih.gov/21165651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21165651

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-010-0931-3

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

29 May 2018

http://europepmc.org/abstract/MED/21165651

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