Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
about
ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6).Kelch proteins: emerging roles in skeletal muscle development and diseases.Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusMutations of GPR126 are responsible for severe arthrogryposis multiplex congenitaIdentification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order AmishNemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1)KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathyGenetics and genomic medicine in Saudi ArabiaLeiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophyKelch Repeat and BTB Domain Containing Protein 5 (Kbtbd5) Regulates Skeletal Muscle Myogenesis through the E2F1-DP1 ComplexBiallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline MyopathyLeiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy.Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle functionNebulin interactions with actin and tropomyosin are altered by disease-causing mutations.Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.Loss of Tropomodulin4 in the zebrafish mutant träge causes cytoplasmic rod formation and muscle weakness reminiscent of nemaline myopathy.Mutation update: the spectra of nebulin variants and associated myopathies.Effect of levosimendan on the contractility of muscle fibers from nemaline myopathy patients with mutations in the nebulin gene.Clinical utility gene card for: Nemaline myopathy - update 2015.Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthMutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humansTreatment with ActRIIB-mFc Produces Myofiber Growth and Improves Lifespan in the Acta1 H40Y Murine Model of Nemaline Myopathy.Mutation-specific effects on thin filament length in thin filament myopathy.Systematic protein-protein interaction and pathway analyses in the idiopathic inflammatory myopathies.A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy.Prenatal diagnosis of congenital myopathies and muscular dystrophies.Myopathology in congenital myopathies.Sarcomere Dysfunction in Nemaline Myopathy.KLHL41 stabilizes skeletal muscle sarcomeres by nonproteolytic ubiquitination.Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.Congenital myopathies: clinical phenotypes and new diagnostic tools.Myostatin inhibition using mRK35 produces skeletal muscle growth and tubular aggregate formation in wild type and TgACTA1D286G nemaline myopathy mice.Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).Internal and external morphology of adults of the appendicularian, Oikopleura dioica: an SEM study.New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients.New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.Cullin3-RING ubiquitin ligase activity is required for striated muscle function in mice.
P2860
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P2860
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@ast
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en-gb
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@nl
type
label
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@ast
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en-gb
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@nl
prefLabel
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@ast
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en-gb
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@nl
P2093
P2860
P50
P921
P3181
P1476
Identification of KLHL41 Mutat ...... isruption in Nemaline Myopathy
@en
P2093
Amal Hashem
Carina Wallgren-Pettersson
Caroline A Sewry
Cynthia Hsu
Elizabeth M Thompson
Emily J Todd
Gianina Ravenscroft
Kazuhiro Ogata
Kyle S Yau
Lindsay C Swanson
P2860
P304
P3181
P356
10.1016/J.AJHG.2013.10.020
P407
P50
P577
2013-12-05T00:00:00Z