(Q43158551)

English

A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin.

scientific article published on 20 January 2009

In more languages

default values for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Duchenne muscular dystrophy

1 reference

based on heuristic

inferred from title

Céline Raguenes-Nicol

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Baptiste Legrand

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Sébastien Legardinier

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Arnaud Bondon

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Serge Hardy

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Christophe Tascon

6

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Elisabeth Le Rumeur

7

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Jean-François Hubert

8

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

0 references

publication date

20 January 2009

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Journal of Biological Chemistry

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

284

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

13

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

8822-8832

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

NMR View: A computer program for the visualization and analysis of NMR data

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Conformational change of erythroid alpha-spectrin at the tetramerization site upon binding beta-spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

ProSA-web: interactive web service for the recognition of errors in three-dimensional structures of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

ZZ domain of dystrophin and utrophin: topology and mapping of a beta-dystroglycan interaction site

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame rule

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Rapid and accurate structure determination of coiled-coil domains using NMR dipolar couplings: application to cGMP-dependent protein kinase Ialpha

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Cooperative folding in a multi-domain protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Interaction of dystrophin rod domain with membrane phospholipids. Evidence of a close proximity between tryptophan residues and lipids.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

The spectrin repeat: a structural platform for cytoskeletal protein assemblies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Data-based modeling of the failure rate of repairable equipment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Modeling of loops in protein structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Structure of a WW domain containing fragment of dystrophin in complex with beta-dystroglycan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

The PSIPRED protein structure prediction server

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Protein secondary structure prediction based on position-specific scoring matrices

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Structures of two repeats of spectrin suggest models of flexibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

GenTHREADER: an efficient and reliable protein fold recognition method for genomic sequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Assessing protein structures with a non-local atomic interaction energy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

AQUA and PROCHECK-NMR: programs for checking the quality of protein structures solved by NMR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Stability of the dystrophin rod domain fold: evidence for nested repeating units

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

NMRPipe: a multidimensional spectral processing system based on UNIX pipes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Dystrophin and the membrane skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Comparative protein modelling by satisfaction of spatial restraints

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Boltzmann's principle, knowledge-based mean fields and protein folding. An approach to the computational determination of protein structures

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Invariant tryptophan at a shielded site promotes folding of the conformational unit of spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Dystrophin and utrophin: the missing links!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Erythrocyte spectrin is comprised of many homologous triple helical segments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Intragenic deletions in 21 Duchenne muscular dystrophy (DMD)/Becker muscular dystrophy (BMD) families studied with the dystrophin cDNA: location of breakpoints on HindIII and BglII exon-containing fragment maps, meiotic and mitotic origin of the mut

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Calculation of conformational ensembles from potentials of mean force. An approach to the knowledge-based prediction of local structures in globular proteins.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Phasing the conformational unit of spectrin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Synthetic model proteins. Positional effects of interchain hydrophobic interactions on stability of two-stranded alpha-helical coiled-coils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Analysis of the three-alpha-helix motif in the spectrin superfamily of proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Assessment of protein models with three-dimensional profiles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

25 May 2018

Sub-domains of the dystrophin rod domain display contrasting lipid-binding and stability properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Conformational stabilities of the structural repeats of erythroid spectrin and their functional implications.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Structural insights into the stability and flexibility of unusual erythroid spectrin repeats

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Point mutation and polymorphism in Duchenne/Becker muscular dystrophy (D/BMD) patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Free energies of urea and of thermal unfolding show that two tandem repeats of spectrin are thermodynamically more stable than a single repeat

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

conformation and phasing of dystrophin structural repeats.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2659240

15 August 2018

Independent Movement, Dimerization and Stability of Tandem Repeats of Chicken Brain α-Spectrin

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M805846200

21 January 2018

DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patients

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M805846200

21 January 2018

Computed circular dichroism spectra for the evaluation of protein conformation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rapid DNA haplotyping using a multiplex heteroduplex approach: Application to duchenne muscular dystrophy carrier testing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection in DMD families with point mutations, using PCR-SSCP and direct sequencing

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Minimum folding unit of dystrophin rod domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural cooperativity in spectrin type repeats motifs of dystrophin

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19158079

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1074/JBC.M805846200

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19158079%20AND%20SRC:MED&resulttype=core&format=json

20 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=Q43158551&oldid=2098278119"