A dysfunctional desmin mutation in a patient with severe generalized myopathy
about
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desminLoss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndromeDual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutantsGenomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3Intermediate Filaments Play a Pivotal Role in Regulating Cell Architecture and FunctionThe ubiquitin-proteasome system and cardiovascular diseaseMyofibrillar myopathiesThe cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro.The specificity of the interaction between αB-crystallin and desmin filaments and its impact on filament aggregation and cell viability.Myofibrillar myopathies: new developments.Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.The cytoskeleton of digestive epithelia in health and disease.The eye lens cytoskeleton.Progress in desmin-related myopathies.Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stagesMultiple sites in αB-crystallin modulate its interactions with desmin filaments assembled in vitro.Desmin filaments influence myofilament spacing and lateral compliance of slow skeletal muscle fibers.Desmin-related myopathies in mice and man.Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.Clinical and genetic aspects of distal myopathies.Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.Two desmin gene mutations associated with myofibrillar myopathies in Polish familiesCompound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathyMutation in BAG3 causes severe dominant childhood muscular dystrophy.Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Desmin-related cardiomyopathy: an unfolding storyDesmin splice variants causing cardiac and skeletal myopathy.Extensive induction of important mediators of fibrosis and dystrophic calcification in desmin-deficient cardiomyopathy.Desminopathies in muscle disease.Target genes of neuron-restrictive silencer factor are abnormally up-regulated in human myotilinopathyDiagnostic immunohistochemistry in neuromuscular disorders.Desminopathies: pathology and mechanisms.Knockdown of desmin in zebrafish larvae affects interfilament spacing and mechanical properties of skeletal muscleMyofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle diseaseIntermediate filaments: primary determinants of cell architecture and plasticity."IF-pathies": a broad spectrum of intermediate filament-associated diseases.Molecular pathology of myofibrillar myopathies.Designing heart performance by gene transfer.
P2860
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P2860
A dysfunctional desmin mutation in a patient with severe generalized myopathy
description
1998 nî lūn-bûn
@nan
1998 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@ast
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en-gb
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@nl
type
label
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@ast
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en-gb
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@nl
prefLabel
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@ast
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en-gb
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@nl
P2093
P2860
P921
P3181
P356
P1476
A dysfunctional desmin mutation in a patient with severe generalized myopathy
@en
P2093
A M Muñoz-Mármol
G Strasser
J J Navas-Palacios
M T Fernández-Figueras
P2860
P304
P3181
P356
10.1073/PNAS.95.19.11312
P407
P577
1998-09-15T00:00:00Z