Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
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J protein mutations and resulting proteostasis collapseNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FA human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactomeUnderstanding cardiac sarcomere assembly with zebrafish geneticsSwimming into prominence: the zebrafish as a valuable tool for studying human myopathies and muscular dystrophies.Huntington's disease induced cardiac amyloidosis is reversed by modulating protein folding and oxidative stress pathways in the Drosophila heartDNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of MyopathiesDisrupted autophagy undermines skeletal muscle adaptation and integrityMissense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremorWelander distal myopathy is caused by a mutation in the RNA-binding protein TIA1HSPA8/HSC70 chaperone protein: structure, function, and chemical targeting.Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyIn vivo modeling of the morbid human genome using Danio rerioCellular stress stimulates nuclear localization signal (NLS) independent nuclear transport of MRJ.Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.Limb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Exercise-induced skeletal muscle remodeling and metabolic adaptation: redox signaling and role of autophagy.Upper girdle imaging in facioscapulohumeral muscular dystrophy.The Role of the Heat Shock Protein B8 (HSPB8) in Motoneuron Diseases.Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.RNAi-based gene therapy for dominant Limb Girdle Muscular Dystrophies.Getting folded: chaperone proteins in muscle development, maintenance and disease.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Borderlines between Sarcopenia and Mild Late-Onset Muscle Disease.Micro-RNA-632 downregulates DNAJB6 in breast cancer.Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Efficacy of muscle exercise in patients with muscular dystrophy: a systematic review showing a missed opportunity to improve outcomes.BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.Interpreting human genetic variation with in vivo zebrafish assays.Challenging muscle homeostasis uncovers novel chaperone interactions in Caenorhabditis elegansMeeting Report: New Directions in the Biology and Disease of Skeletal Muscle 2014Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyA Differentiation Transcription Factor Establishes Muscle-Specific Proteostasis in Caenorhabditis elegans.Myofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1DZebrafish models flex their muscles to shed light on muscular dystrophies.Desminopathies: pathology and mechanisms.Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D.
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P2860
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy
description
2012 nî lūn-bûn
@nan
2012 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@ast
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en-gb
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@nl
type
label
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@ast
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en-gb
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@nl
prefLabel
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@ast
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en-gb
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@nl
P2093
P2860
P50
P3181
P356
P1433
P1476
Mutations affecting the cytopl ...... limb-girdle muscular dystrophy
@en
P2093
Anna Vihola
Bjarne Udd
Helena Luque
Jeffrey M Stajich
Johanna Palmio
Mark Screen
Michael Hauser
Olayinka Raheem
Peter Hackman
Sara Lehtinen
P2860
P2888
P304
450-5, S1-2
P3181
P356
10.1038/NG.1103
P407
P50
P577
2012-04-01T00:00:00Z
P5875
P6179
1027510810