Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
about
J protein mutations and resulting proteostasis collapseNext-generation sequencing identifies transportin 3 as the causative gene for LGMD1FA splicing mutation in the novel mitochondrial protein DNAJC11 causes motor neuron pathology associated with cristae disorganization, and lymphoid abnormalities in miceDNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of MyopathiesADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathyWelander distal myopathy is caused by a mutation in the RNA-binding protein TIA1Cellular 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).Overexpression of the essential Sis1 chaperone reduces TDP-43 effects on toxicity and proteolysis.Myopathy-causing mutations in an HSP40 chaperone disrupt processing of specific client conformers.Getting folded: chaperone proteins in muscle development, maintenance and disease.The balanced regulation of Hsc70 by DNJ-13 and UNC-23 is required for muscle functionality.MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.Micro-RNA-632 downregulates DNAJB6 in breast cancer.A novel autosomal dominant inclusion body myopathy linked to 7q22.1-31.1.The biology of proteostasis in aging and disease.Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.Undiagnosed genetic muscle disease in the north of England: an in depth phenotype analysis.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex NeuropathyMyofibrillar disruption and RNA-binding protein aggregation in a mouse model of limb-girdle muscular dystrophy 1DDiagnostically important muscle pathology in DNAJB6 mutated LGMD1D.Human J-protein DnaJB6b Cures a Subset of Saccharomyces cerevisiae Prions and Selectively Blocks Assembly of Structurally Related Amyloids.A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy.Trapping cardiac recessive mutants via expression-based insertional mutagenesis screening.Next-generation sequencing in understanding complex neurological diseasePrion-like nuclear aggregation of TDP-43 during heat shock is regulated by HSP40/70 chaperones.Filamin C-related myopathies: pathology and mechanisms."Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular DisordersHsp70 protein complexes as drug targets.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Opportunities and challenges for molecular chaperone modulation to treat protein-conformational brain diseasesExome sequencing greatly expedites the progressive research of Mendelian diseases.Barcoding heat shock proteins to human diseases: looking beyond the heat shock responseMolecular chaperones and neuronal proteostasis.Mitochondrial abnormalities in the myofibrillar myopathies.Emerging roles and underlying molecular mechanisms of DNAJB6 in cancerEarly gene expression changes in skeletal muscle from SOD1(G93A) amyotrophic lateral sclerosis animal model.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
P2860
Q21129474-18C7A7C5-B176-41B9-A1A4-10D8E5230B81Q21133534-2AF47FAB-340F-496A-80BF-5A8196F7398EQ27316380-781F8242-E736-482C-8139-A54973AC44C9Q28071332-591AFC89-6873-4A1A-A6F9-71725BE3CDCBQ28114784-E8B5CCD2-439E-496A-8655-9A233B061BBFQ28285385-333FA246-B1AF-4175-B8F9-615E95ADD6F9Q30523068-0B0259BA-A17F-4046-90AC-D095ADC07D24Q33581928-F6EE6277-1332-44FD-B7DF-B6E4D7B2586BQ33608787-DCCB31AD-40A4-4BC4-9002-1F00DF0C0076Q33769272-5EA90756-E049-4D43-8C35-AF131A81D791Q33947263-ACF238B8-98C5-4F3D-8615-E8264A8DC477Q34055646-C4531A0F-9C72-4C10-BA21-F819FFFA41B4Q34139157-81E9FA3F-FA59-482F-8C93-4A02C7185586Q34234134-85B9CE2A-1776-4B5C-94B1-1FEF48426B81Q34282577-A9154697-02A9-43FB-9191-7F3EC5AED5C3Q34314374-1AD55FD3-3611-4242-9CC2-8AE6F027AB93Q34467650-71A693A0-5BEF-4375-A927-2CBCF4B40C2AQ34508040-DC6B00FB-D7B5-4A35-93BC-BAF10C74605DQ34779932-F33DE4EF-7C0D-4BB0-BD90-871DD9A00698Q35886073-B4766177-F289-4F2B-B4B6-248CD0013AF7Q35984327-4496792A-F3FB-46CF-B956-09D3340ABFC8Q36251979-99388692-E4A2-49A3-9470-509BA270C431Q36549766-83A171B0-7678-49D3-A858-DA669BE8542BQ36594690-2A04E13C-DF4F-447D-96E6-918816F3AB3FQ36671338-5C82A268-A25F-4F5E-9F27-4E11C40BD159Q36702121-B37CAEDB-9B53-4B28-8C54-2912002FD1C6Q37331388-DAAFFC16-CCAB-42D3-9F09-EF34E9FACCEFQ37380181-F41CF3DD-D10F-4926-A668-2FE11AAE6E33Q37450673-DBF84AF2-D4C3-4226-8966-9DFFF4C7ECAFQ37610585-821C149F-9BE6-4453-A4FA-60E31BAEB424Q38037745-6CE80CAC-3275-4F98-8829-DFDF4FD0199AQ38065979-CA6FFAEA-C483-4DC7-AE37-58E1EBC2F680Q38093796-F954488D-F7B2-4A9C-AA37-569CF6E361D8Q38175288-D740F02B-EB46-43B9-8693-0643662924C6Q38203487-9AA6A80B-27C6-4961-9A89-DF121847DA6DQ38377410-B5273082-22D4-42F3-AA2B-6383F5438ADAQ38552890-7BACB015-262F-4DA0-B467-B82EC1F704C0Q38859055-D94A484B-F186-4B98-B2C7-2B65C734A269Q39032912-4949A644-463B-447D-8190-CF0989A8AF26Q39980386-9EEFECDC-2227-468C-9097-C58C7CAAC1FB
P2860
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
description
2012 nî lūn-bûn
@nan
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
2012年论文
@zh
2012年论文
@zh-cn
name
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@ast
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@en
type
label
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@ast
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@en
prefLabel
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@ast
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@en
P2093
P2860
P356
P1433
P1476
Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.
@en
P2093
Alan Pestronk
Conrad C Weihl
Duanduan Ma
Glenn Lopate
Matthew B Harms
Paul Cooper
Peggy Allred
R Brian Sommerville
Robert H Baloh
Shaughn Bell
P2860
P304
P356
10.1002/ANA.22683
P577
2012-02-14T00:00:00Z