(Q34263903)

1 August 2017

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title

Intermediate filament-related myopathies (English)

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1 August 2017

Banwell BL

1

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1 August 2017

publication date

1 April 2001

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1 August 2017

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1 August 2017

volume

24

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1 August 2017

issue

4

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1 August 2017

page(s)

257-263

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Integration of intermediate filaments into cellular organelles

1 August 2017

cites work

1 reference

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7 January 2021

Nuclear lamins: their structure, assembly, and interactions

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7 January 2021

Intermediate filaments and their associated proteins: multiple dynamic personalities.

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7 January 2021

Intermediate filament-associated proteins

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7 January 2021

A dysfunctional desmin mutation in a patient with severe generalized myopathy

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7 January 2021

Disruption of muscle architecture and myocardial degeneration in mice lacking desmin

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7 January 2021

Lamin B constitutes an intermediate filament attachment site at the nuclear envelope

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7 January 2021

Desmin-related neuromuscular disorders

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7 January 2021

Desmin in muscle formation and maintenance: knockouts and consequences

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7 January 2021

The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis

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7 January 2021

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

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7 January 2021

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

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7 January 2021

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle

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7 January 2021

Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle: report of a case with immunoelectron microscopy

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7 January 2021

Myofibrillar myopathy

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7 January 2021

Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases

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7 January 2021

Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins

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7 January 2021

Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy

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7 January 2021

Familial cardiac and skeletal myopathy associated with desmin accumulation

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7 January 2021

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

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7 January 2021

The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.

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7 January 2021

The intermediate filament protein consensus motif of helix 2B: its atomic structure and contribution to assembly

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7 January 2021

Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q

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7 January 2021

Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle

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7 January 2021

Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle

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7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

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7 January 2021

Emery-Dreifuss muscular dystrophy: report of five cases in a family and review of the literature

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7 January 2021

Emery-dreifuss muscular dystrophy

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7 January 2021

Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

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7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

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7 January 2021

Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

1 reference

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7 January 2021

Anti-vimentin staining in muscle pathology.

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7 January 2021

Mice lacking vimentin develop and reproduce without an obvious phenotype

1 reference

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7 January 2021

Specific and innervation-regulated expression of the intermediate filament protein nestin at neuromuscular and myotendinous junctions in skeletal muscle

1 reference

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7 January 2021

Myofibers from Duchenne/Becker muscular dystrophy and myositis express the intermediate filament nestin

1 reference

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7 January 2021

Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments

1 reference

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7 January 2021

Expression of intermediate filament-associated proteins paranemin and synemin in chicken development

1 reference

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7 January 2021

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

1 reference

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

Protein kinase A- and protein kinase C-regulated interaction of plectin with lamin B and vimentin

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7 January 2021

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

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7 January 2021

Plectin: a cytolinker by design

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https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

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

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7 January 2021

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1 reference

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7 January 2021

Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0887-8994%2800%2900248-4

7 January 2021

10.1016/S0887-8994(00)00248-4

Identifiers

DOI

1 reference

1 August 2017

1 reference