Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. - Wikidata - awgldk - TriplyDB

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

http://www.wikidata.org/entity/Q36218715

about

Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F A Novel Structural Unit in the N-terminal Region of Filamins Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle.Myofibrillar myopathies: new developments.Clinical reasoning: a 52-year-old woman with progressive proximal weakness.Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies.Autophagic vacuolar pathology in desminopathies.New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.Filamin C-related myopathies: pathology and mechanisms.Human myocytes are protected from titin aggregation-induced stiffening by small heat shock proteins.Proteins that accumulate with age in human skeletal-muscle aggregates contribute to declines in muscle mass and function in Caenorhabditis elegans "Get the Balance Right": Pathological Significance of Autophagy Perturbation in Neuromuscular Disorders Skeletal muscle, autophagy, and physical activity: the ménage à trois of metabolic regulation in health and disease.Anesthetic considerations in myofibrillar myopathy.Mitochondrial abnormalities in the myofibrillar myopathies.FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy A change of heart: oxidative stress in governing muscle function?FLNC myofibrillar myopathy results from impaired autophagy and protein insufficiency.Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.Chaperone-assisted proteostasis is essential for mechanotransduction in mammalian cells.Breaking sarcomeres by in vitro exercise.A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice.Myofibrillar instability exacerbated by acute exercise in filaminopathy.A case report: a heterozygous deletion (2791_2805 del) in exon 18 of the filamin C gene causing filamin C-related myofibrillar myopathies in a Chinese family.Zebrafish models of BAG3 myofibrillar myopathy suggest a toxic gain of function leading to BAG3 insufficiency

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P2860

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

http://www.wikidata.org/entity/Q36218715

description

2012 nî lūn-bûn

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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2012年论文

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2012年论文

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name

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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type

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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prefLabel

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

@ast

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

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Adekunle Onipe

http://www.w3.org/2001/XMLSchema#string

Dieter O Fürst

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Hee S Lee

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Isidro Ferrer

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Juan M Bilbao

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Jörg Höhfeld

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Kester Kong

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Kristina Djinović-Carugo

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Lev G Goldfarb

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Mariya Mihaylov

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P2860

Creatine for treating muscle disorders

FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle

Indications for a novel muscular dystrophy pathway. gamma-filamin, the muscle-specific filamin isoform, interacts with myotilin

The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins

Protein quality control during aging involves recruitment of the macroautophagy pathway by BAG3

Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP

HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin

Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein

The ubiquitin proteasome system in neuropathology

Regulation of autophagy by cytoplasmic p53

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2642-2660

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10.1093/BRAIN/AWS200

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P433

Pt 9

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P478

135

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2012-09-01T00:00:00Z

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230826276

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22961544

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pathophysiology

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3437028

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