(Q43184436)

English

A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization.

scientific article published on 6 June 2008

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scholarly article

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

A missense mutation in desmin tail domain linked to human dilated cardiomyopathy promotes cleavage of the head domain and abolishes its Z-disc localization (English)

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

dilated cardiomyopathy

1 reference

based on heuristic

inferred from title

Manolis Mavroidis

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

author name string

Panagiota Panagopoulou

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Ioanna Kostavasili

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Noah Weisleder

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Yassemi Capetanaki

5

1 reference

Europe PubMed Central

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8 January 2020

language of work or name

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publication date

6 June 2008

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Europe PubMed Central

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8 January 2020

number of pages

10

1 reference

based on heuristic

inferred from page(s)

1 reference

Europe PubMed Central

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8 January 2020

22

1 reference

Europe PubMed Central

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8 January 2020

9

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

3318-3327

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

Proper perinuclear localization of the TRIM-like protein myospryn requires its binding partner desmin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Muscle intermediate filaments and their links to membranes and membranous organelles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin stimulates differentiation of cardiomyocytes and up-regulation of brachyury and nkx2.5.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Forced expression of desmin and desmin mutants in cultured cells: impact of myopathic missense mutations in the central coiled-coil domain on network formation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

The area composita of adhering junctions connecting heart muscle cells of vertebrates. I. Molecular definition in intercalated disks of cardiomyocytes by immunoelectron microscopy of desmosomal proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Alterations in the heart mitochondrial proteome in a desmin null heart failure model.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

The biology of desmin filaments: how do mutations affect their structure, assembly, and organisation?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin myopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Myofibrillar myopathy: clinical, morphological and genetic studies in 63 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Dilated cardiomyopathy: a disease of the intercalated disc?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin cytoskeleton: a potential regulator of muscle mitochondrial behavior and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Acute effects of desmin mutations on cytoskeletal and cellular integrity in cardiac myocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Amino-terminally truncated desmin rescues fusion of des(-/-) myoblasts but negatively affects cardiomyogenesis and smooth muscle development.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Extensive induction of important mediators of fibrosis and dystrophic calcification in desmin-deficient cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Intermediate filaments: molecular architecture, assembly, dynamics and polymorphism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

The absence of desmin leads to cardiomyocyte hypertrophy and cardiac dilation with compromised systolic function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Desmin mutation responsible for idiopathic dilated cardiomyopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Null mutation in the desmin gene gives rise to a cardiomyopathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Assembly of intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Binding of two desmin derivatives to the plasma membrane and the nuclear envelope of avian erythrocytes: evidence for a conserved site-specificity in intermediate filament-membrane interactions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Site specificity in vimentin-membrane interactions: intermediate filament subunits associate with the plasma membrane via their head domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Molecular and cellular biology of intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Properties of the desmin tail domain: studies using synthetic peptides and antipeptide antibodies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Tissue-specific regulation of the alpha-myosin heavy chain gene promoter in transgenic mice.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

A potential role for the COOH-terminal domain in the lateral packing of type III intermediate filaments

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

Identification of a nonapeptide motif in the vimentin head domain involved in intermediate filament assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

25 May 2018

New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

Aberrant protein aggregation is essential for a mutant desmin to impair the proteolytic function of the ubiquitin-proteasome system in cardiomyocytes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

Patient-specific anatomic models. Geometric surface generation from three-dimensional medical images using a specified polygonal budget.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

15 August 2018

Characterization of the human urine proteome by preparative electrophoresis in combination with 2-DE

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2638966

1 December 2018

Cardiomyocyte-specific desmin rescue of desmin null cardiomyopathy excludes vascular involvement

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structural and molecular pathology of the heart in Carvajal syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Purification and further characterization of the Ca2+-activated proteinase specific for the intermediate filament proteins vimentin and desmin

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Intermediate filament forming ability of desmin derivatives lacking either the amino-terminal 67 or the carboxy-terminal 27 residues

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Desmin cytoskeleton in muscle integrity and function

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of Desmin Mutations in Dilated Cardiomyopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Vimentin's tail interacts with actin-containing structures in vivo

1 reference

https://pubmed.ncbi.nlm.nih.gov/18539904

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1096/FJ.07-088724

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 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:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 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:18539904%20AND%20SRC:MED&resulttype=core&format=json

8 January 2020

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