135 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. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
5. Phosphoproteomics identifies dual-site phosphorylation in an extended basophilic motif regulating FILIP1-mediated degradation of filamin-C
6. Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
7. Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
8. Myofibrillar instability exacerbated by acute exercise in filaminopathy
9. Molecular basis of F-actin regulation and sarcomere assembly via myotilin
10. Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
11. Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family
12. HspB1 phosphorylation regulates its intramolecular dynamics and mechanosensitive molecular chaperone interaction with filamin C
13. Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
14. Titin and Diaphragm Dysfunction in Chronic Obstructive Pulmonary Disease
15. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria
16. Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells
17. HspB1 phosphorylation regulates its intramolecular dynamics and mechanosensitive molecular chaperone interaction with filamin C
18. Structural basis for activation of the titin kinase domain during myofibrillogenesis
19. Association of Plectin with Z-Discs Is a Prerequisite for the Formation of the Intermyofibrillar Desmin Cytoskeleton
20. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency
21. Breaking sarcomeres by in vitro exercise
22. Statins activate the canonical hedgehog-signaling and aggravate non-cirrhotic portal hypertension, but inhibit the non-canonical hedgehog signaling and cirrhotic portal hypertension
23. Aciculin interacts with filamin C and Xin and is essential for myofibril assembly, remodeling and maintenance
24. Identification of Xin-repeat proteins as novel ligands of the SH3 domains of nebulin and nebulette and analysis of their interaction during myofibril formation and remodeling
25. Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
26. Filamins but Not Janus Kinases Are Substrates of the ASB2α Cullin-Ring E3 Ubiquitin Ligase in Hematopoietic Cells
27. Skeletal muscle regeneration is delayed by reduction in Xin expression: consequence of impaired satellite cell activation?
28. Xin, an actin binding protein, is expressed within muscle satellite cells and newly regenerated skeletal muscle fibers
29. New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
30. Xin repeats define a novel actin-binding motif
31. Paradoxical absence of M lines and downregulation of creatine kinase in mouse extraocular muscle
32. Transient association of titin and myosin with microtubules in nascent myofibrils directed by the MURF2 RING-finger protein
33. Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.
34. A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy.
35. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
36. A functional knock-out of titin results in defective myofibril assembly
37. Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.
38. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
39. The novel cardiac z-disc protein CEFIP regulates cardiomyocyte hypertrophy by modulating calcineurin signaling.
40. Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
41. FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
42. Recessive Mutations in SYNPO2 as a Candidate of Monogenic Nephrotic Syndrome.
43. Myofibrillar Z-discs Are a Protein Phosphorylation Hot Spot with Protein Kinase C (PKCα) Modulating Protein Dynamics.
44. Xin is a marker of skeletal muscle damage severity in myopathies.
45. Cellular mechanotransduction relies on tension-induced and chaperone-assisted autophagy.
46. A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients.
47. Skeletal muscle regeneration is delayed by reduction in Xin expression: consequence of impaired satellite cell activation?
48. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy.
49. The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
50. Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.
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