(Q48575004)

English

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.

scientific article published in June 2002

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scholarly article

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. (English)

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

epidermolysis bullosa simplex with muscular dystrophy

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17

object named as

Jouni Uitto

1 reference

Europe PubMed Central

12 February 2018

Detlef Zillikens

14

object named as

Detlef Zillikens

1 reference

Europe PubMed Central

12 February 2018

Thomas Klockgether

16

object named as

Thomas Klockgether

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

author name string

Rolf Schröder

1

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Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

Wolfram S Kunz

2

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

Fatima Rouan

3

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Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Ellen Pfendner

4

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Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Karen Tolksdorf

5

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http://europepmc.org/abstract/MED/12071635

Karin Kappes-Horn

6

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Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Manuela Altenschmidt-Mehring

7

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http://europepmc.org/abstract/MED/12071635

Rupert Knoblich

8

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http://europepmc.org/abstract/MED/12071635

Peter F M van der Ven

9

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http://europepmc.org/abstract/MED/12071635

Jens Reimann

10

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Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Dieter O Fürst

11

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http://europepmc.org/abstract/MED/12071635

Ingmar Blümcke

12

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http://europepmc.org/abstract/MED/12071635

Stefan Vielhaber

13

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Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Sabine Eming

15

1 reference

Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Gerhard Wiche

18

1 reference

Europe PubMed Central

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http://europepmc.org/abstract/MED/12071635

Arndt Rolfs

19

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12 February 2018

http://europepmc.org/abstract/MED/12071635

publication date

1 June 2002

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Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

Journal of Neuropathology & Experimental Neurology

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Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

61

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http://europepmc.org/abstract/MED/12071635

6

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520-530

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12 February 2018

http://europepmc.org/abstract/MED/12071635

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Occurrence and immunolocalization of plectin in tissues

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Plectin: general overview and appraisal of its potential role as a subunit protein of the cytomatrix

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Cloning and characterization of the neural isoforms of human dystonin

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Functional analysis of desmoplakin domains: specification of the interaction with keratin versus vimentin intermediate filament networks

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Periplakin, a novel component of cornified envelopes and desmosomes that belongs to the plakin family and forms complexes with envoplakin

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Acf7 (MACF) is an actin and microtubule linker protein whose expression predominates in neural, muscle, and lung development.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

cDNA cloning, mRNA expression, and chromosomal mapping of human and mouse periplakin genes

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Human plectin: organization of the gene, sequence analysis, and chromosome localization (8q24)

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Plectin transcript diversity: identification and tissue distribution of variants with distinct first coding exons and rodless isoforms

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Not just scaffolding: plectin regulates actin dynamics in cultured cells

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Plectin sidearms mediate interactions of intermediate filaments with microtubules and other components of the cytoskeleton.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Linking integrin alpha6beta4-based cell adhesion to the intermediate filament cytoskeleton: direct interaction between the beta4 subunit and plectin at multiple molecular sites.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Identification of the cytolinker plectin as a major early in vivo substrate for caspase 8 during CD95- and tumor necrosis factor receptor-mediated apoptosis

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Mutation reports: epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Identification of a new hemidesmosomal protein, HD1: a major, high molecular mass component of isolated hemidesmosomes

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Identification of the hemidesmosomal 500 kDa protein (HD1) as plectin

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Monoclonal antibody mapping of structural and functional plectin epitopes

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Unusual 5' transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Desmin and vimentin coexist at the periphery of the myofibril Z disc

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Expression profiling in the muscular dystrophies: identification of novel aspects of molecular pathophysiology

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Association of mitochondria with plectin and desmin intermediate filaments in striated muscle

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Immunocytochemical identification of cytoskeletal linkages to smooth muscle cell nuclei and mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Mitochondrial impairment of human muscle in Friedreich ataxia in vivo

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F61.6.520

21 January 2018

Identifiers

10.1093/JNEN/61.6.520

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

1 reference

Europe PubMed Central

12 February 2018

http://europepmc.org/abstract/MED/12071635

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