Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

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http://www.wikidata.org/entity/Q30364996
Chaperonopathies: Spotlight on Hereditary Motor NeuropathiesDNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.The Role of the Heat Shock Protein B8 (HSPB8) in Motoneuron Diseases.Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy.Granulostasis: Protein Quality Control of RNP Granules.Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.The small heat shock protein B8 (HSPB8) efficiently removes aggregating species of dipeptides produced in C9ORF72-related neurodegenerative diseases.An interaction study in mammalian cells demonstrates weak binding of HSPB2 to BAG3, which is regulated by HSPB3 and abrogated by HSPB8.The growing world of small heat shock proteins: from structure to functions.Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Differential expression of microRNAs associated with thermal stress in Frieswal (Bos taurus x Bos indicus) crossbred dairy cattle.BAG3-mediated proteostasis at a glance.A novel DNAJB6 mutation causes dominantly inherited distal-onset myopathy and compromises DNAJB6 function.Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of Bcl-2-associated athanogene-3 gene mutations even without cardiac involvement.HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
P2860

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

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http://www.wikidata.org/entity/Q30364996
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2015 nî lūn-bûn
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2015 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
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2015 թվականի դեկտեմբերին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@ast
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@en
type
label
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@ast
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@en
prefLabel
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@ast
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy
@en
P2093
P2860
P304
P31
P356
10.1212/WNL.0000000000002324
P407
P433
P478
P50
P577
P698
P932