Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
about
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutationsThe many faces of plectin and plectinopathies: pathology and mechanismsPlectin reinforces vascular integrity by mediating crosstalk between the vimentin and the actin networks.Neuromuscular synapse integrity requires linkage of acetylcholine receptors to postsynaptic intermediate filament networks via rapsyn-plectin 1f complexes.Modular organization of cardiac energy metabolism: energy conversion, transfer and feedback regulation.Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplexPlectin regulates the organization of glial fibrillary acidic protein in Alexander disease.Cardiomyocyte mitochondrial oxidative stress and cytoskeletal breakdown in the heart with a primary volume overload.Plectin isoform P1b and P1d deficiencies differentially affect mitochondrial morphology and function in skeletal muscle.Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.Downstream effects of plectin mutations in epidermolysis bullosa simplex with muscular dystrophyPhosphorylation of serine 4,642 in the C-terminus of plectin by MNK2 and PKA modulates its interaction with intermediate filaments.Myofibrillar myopathies: a clinical and myopathological guide.Plakins in striated muscle.Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve.Mitochondrial dysfunction: a neglected component of skin diseases.The role of tubulin in the mitochondrial metabolism and arrangement in muscle cells.Mitochondrial abnormalities in the myofibrillar myopathies.One gene but different proteins and diseases: the complexity of dystonin and bullous pemphigoid antigen 1.Analysis of selected genes associated with cardiomyopathy by next-generation sequencing.Epidermolysis bullosa simplex with muscular dystrophy. Review of the literature and a case report.Plectin deficiency on cytoskeletal disorganization and transformation of human liver cells in vitro.Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissueOn noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.Smad-interacting protein 1 affects acute and tonic, but not chronic pain.Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.Plectin rodless isoform expression and its detection in mouse brain.A Missense Variant in PLEC Increases Risk of Atrial Fibrillation.Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex.Plectin defects in epidermolysis bullosa simplex with muscular dystrophy.Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency
P2860
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P2860
Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年学术文章
@wuu
2002年学术文章
@zh-cn
2002年学术文章
@zh-hans
2002年学术文章
@zh-my
2002年学术文章
@zh-sg
2002年學術文章
@yue
2002年學術文章
@zh
2002年學術文章
@zh-hant
name
Disorganization of the desmin ...... mplex with muscular dystrophy.
@en
Disorganization of the desmin ...... mplex with muscular dystrophy.
@nl
type
label
Disorganization of the desmin ...... mplex with muscular dystrophy.
@en
Disorganization of the desmin ...... mplex with muscular dystrophy.
@nl
prefLabel
Disorganization of the desmin ...... mplex with muscular dystrophy.
@en
Disorganization of the desmin ...... mplex with muscular dystrophy.
@nl
P2093
P2860
P50
P356
P1476
Disorganization of the desmin ...... mplex with muscular dystrophy.
@en
P2093
Arndt Rolfs
Dieter O Fürst
Ellen Pfendner
Fatima Rouan
Gerhard Wiche
Ingmar Blümcke
Jens Reimann
Karen Tolksdorf
Karin Kappes-Horn
Manuela Altenschmidt-Mehring
P2860
P304
P356
10.1093/JNEN/61.6.520
P577
2002-06-01T00:00:00Z