31 results on '"van der Ven, Peter F. M."'
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2. Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
3. Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
4. Phosphoproteomics identifies dual-site phosphorylation in an extended basophilic motif regulating FILIP1-mediated degradation of filamin-C
5. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
6. Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis.
7. Myofibrillar instability exacerbated by acute exercise in filaminopathy
8. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
9. Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
10. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
11. Titin and Diaphragm Dysfunction in Chronic Obstructive Pulmonary Disease
12. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
13. Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
14. Molecular basis of F-actin regulation and sarcomere assembly via myotilin.
15. Structural basis for activation of the titin kinase domain during myofibrillogenesis
16. Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton
17. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
18. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
19. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance.
20. Filamins but Not Janus Kinases Are Substrates of the ASB2α Cullin- Ring E3 Ubiquitin Ligase in Hematopoietic Cells.
21. Skeletal muscle regeneration is delayed by reduction in Xin expression: consequence of impaired satellite cell activation?
22. Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.
23. Xin, an actin binding protein, is expressed within muscle satellite cells and newly regenerated skeletal muscle fibers.
24. A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy.
25. Xin repeats define a novel actin-binding motif.
26. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
27. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
28. Breaking sarcomeres by in vitro exercise.
29. Statins activate the canonical hedgehog-signaling and aggravate non-cirrhotic portal hypertension, but inhibit the non-canonical hedgehog signaling and cirrhotic portal hypertension.
30. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
31. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
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