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The p.Ala2430Val mutation in filamin C causes a "hypertrophic myofibrillar cardiomyopathy".
- Published in:
- Journal of Muscle Research & Cell Motility, 2021, v. 42, n. 2, p. 381, doi. 10.1007/s10974-021-09601-1
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- Article
Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01001-9
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- Article
Filamin-A-interacting protein 1 (FILIP1) is a dual compartment protein linking myofibrils and microtubules during myogenic differentiation and upon mechanical stress.
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- Cell & Tissue Research, 2023, v. 393, n. 1, p. 133, doi. 10.1007/s00441-023-03776-4
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- Article
Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23858-7
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- Article
DNA sequencing errors in molecular diagnostics of filamin myopathy.
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- Clinical Chemistry & Laboratory Medicine, 2010, v. 48, n. 10, p. 1409, doi. 10.1515/CCLM.2010.272
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- Article
Breaking sarcomeres by in vitro exercise.
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- Scientific Reports, 2016, p. 19614, doi. 10.1038/srep19614
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- Article
Statins activate the canonical hedgehog-signaling and aggravate non-cirrhotic portal hypertension, but inhibit the non-canonical hedgehog signaling and cirrhotic portal hypertension.
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- Scientific Reports, 2015, p. 14573, doi. 10.1038/srep14573
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- Article
Xirp Proteins Mark Injured Skeletal Muscle in Zebrafish.
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- PLoS ONE, 2012, v. 7, n. 2, p. 1, doi. 10.1371/journal.pone.0031041
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- Article
Maintaining proteostasis under mechanical stress.
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- EMBO Reports, 2021, v. 22, n. 8, p. 1, doi. 10.15252/embr.202152507
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- Article
Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family.
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- Human Genetics, 2000, v. 107, n. 6, p. 597, doi. 10.1007/s004390000414
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- Article
Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0474-0
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- Article
Complete loss of murine Xin results in a mild cardiac phenotype with altered distribution of intercalated discs.
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- Cardiovascular Research, 2010, v. 85, n. 4, p. 739, doi. 10.1093/cvr/cvp345
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- Article
Phosphoproteomics identifies dual-site phosphorylation in an extended basophilic motif regulating FILIP1-mediated degradation of filamin-C.
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- Communications Biology, 2020, v. 3, n. 1, p. 1, doi. 10.1038/s42003-020-0982-5
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- Article
Target formation in muscle fibres indicates reinnervation -- A proteomic study in muscle samples from peripheral neuropathies.
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- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 1, p. 1, doi. 10.1111/nan.12853
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- Article
Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 9, p. 2642, doi. 10.1093/brain/aws200
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- Article
Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.
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- Brain: A Journal of Neurology, 2007, v. 130, n. 12, p. 3250, doi. 10.1093/brain/awm271
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- Article
Molecular basis of F-actin regulation and sarcomere assembly via myotilin.
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- PLoS Biology, 2021, v. 19, n. 4, p. 1, doi. 10.1371/journal.pbio.3001148
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- Article
Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study.
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- Acta Neuropathologica, 2009, v. 117, n. 3, p. 293, doi. 10.1007/s00401-008-0479-7
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- Article
The mode of myofibril remodelling in human skeletal muscle affected by DOMS induced by eccentric contractions.
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- Histochemistry & Cell Biology, 2003, v. 119, n. 5, p. 383, doi. 10.1007/s00418-003-0522-7
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- Article
Primary longitudinal adhesion structures: plectin-containing precursors of costameres in differentiating human skeletal muscle cells.
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- Histochemistry & Cell Biology, 2002, v. 118, n. 4, p. 301, doi. 10.1007/s00418-002-0451-x
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- Article
Filamin C is a highly dynamic protein associated with fast repair of myofibrillar microdamage.
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- Human Molecular Genetics, 2016, v. 25, n. 13, p. 2776, doi. 10.1093/hmg/ddw135
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- Article
Myofibrillar instability exacerbated by acute exercise in filaminopathy.
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- Human Molecular Genetics, 2015, v. 24, n. 25, p. 7207, doi. 10.1093/hmg/ddv421
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- Article
New cardiac and skeletal protein aggregate myopathy associated with combined MuRF1 and MuRF3 mutations.
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- Human Molecular Genetics, 2015, v. 24, n. 13, p. 3638, doi. 10.1093/hmg/ddv108
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- Article
Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and a-actinin and their implication for hypertrophic cardiomyopathy.
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- Cell & Tissue Research, 2004, v. 317, n. 2, p. 129, doi. 10.1007/s00441-004-0873-y
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Filamin C-related myopathies: pathology and mechanisms.
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- Acta Neuropathologica, 2013, v. 125, n. 1, p. 33, doi. 10.1007/s00401-012-1054-9
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Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns.
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- Cells (2073-4409), 2024, v. 13, n. 1, p. 85, doi. 10.3390/cells13010085
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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems.
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- Cells (2073-4409), 2023, v. 12, n. 9, p. 1321, doi. 10.3390/cells12091321
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- Article
First clinical and myopathological description of a myofibrillar myopathy with congenital onset and homozygous mutation in FLNC.
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- Human Mutation, 2020, v. 41, n. 9, p. 1600, doi. 10.1002/humu.24062
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Rho-kinase inhibitor coupled to peptide-modified albumin carrier reduces portal pressure and increases renal perfusion in cirrhotic rats.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-38678-5
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- Article
Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 21, p. 3436, doi. 10.1093/hmg/ddn259
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Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.
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- Human Molecular Genetics, 2008, v. 17, n. 18, p. 2753, doi. 10.1093/hmg/ddn160
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On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
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- Human Molecular Genetics, 2007, v. 16, n. 23, p. 2989, doi. 10.1093/hmg/ddm269
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The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy.
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- Human Molecular Genetics, 2007, v. 16, n. 11, p. 1351, doi. 10.1093/hmg/ddm085
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- Article
On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.
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- Human Molecular Genetics, 2003, v. 12, n. 6, p. 657, doi. 10.1093/hmg/ddg060
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Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly.
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- Human Molecular Genetics, 2003, v. 12, n. 2, p. 189, doi. 10.1093/hmg/ddg020
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Structural basis for activation of the titin kinase domain during myofibrillogenesis.
- Published in:
- Nature, 1998, v. 395, n. 6705, p. 863, doi. 10.1038/27603
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- Article