(Q82719408)

English

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1

scientific article published on 29 December 2011

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

The defective splicing caused by the ISCU intron mutation in patients with myopathy with lactic acidosis is repressed by PTBP1 but can be derepressed by IGF2BP1 (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

lactic acidosis

1 reference

based on heuristic

inferred from title

author name string

Angelica Nordin

1

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Elin Larsson

2

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Monica Holmberg

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

publication date

29 December 2011

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

33

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

3

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

467-470

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

The insulin-like growth factor mRNA binding-protein IMP-1 and the Ras-regulatory protein G3BP associate with tau mRNA and HuD protein in differentiated P19 neuronal cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

The c-myc coding region determinant-binding protein: a member of a family of KH domain RNA-binding proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Alternative splicing of beta-tropomyosin pre-mRNA: cis-acting elements and cellular factors that block the use of a skeletal muscle exon in nonmuscle cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

A family of insulin-like growth factor II mRNA-binding proteins represses translation in late development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI 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://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

IMP1 interacts with poly(A)-binding protein (PABP) and the autoregulatory translational control element of PABP-mRNA through the KH III-IV domain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Visualization of RNA-protein interactions in living cells: FMRP and IMP1 interact on mRNAs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

H19 RNA binds four molecules of insulin-like growth factor II mRNA-binding protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Polypyrimidine tract binding protein controls the transition from exon definition to an intron defined spliceosome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Iron-sulfur proteins in health and disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Polypyrimidine tract binding protein antagonizes exon definition

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Control of c-myc mRNA stability by IGF2BP1-associated cytoplasmic RNPs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22002

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.22002

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22125086%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q82719408&oldid=2034792537"