Filamin C-related myopathies: pathology and mechanisms

[1]  I. Ferrer,et al.  Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. , 2012, Brain : a journal of neurology.

[2]  L. Waddell,et al.  Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late‐onset cerebellar ataxia , 2012, Muscle & nerve.

[3]  B. Brådvik,et al.  Hereditary myopathy with early respiratory failure associated with a mutation in A-band titin. , 2012, Brain : a journal of neurology.

[4]  M. Santibanez-Koref,et al.  Titin mutation segregates with hereditary myopathy with early respiratory failure. , 2012, Brain : a journal of neurology.

[5]  A. Pestronk,et al.  Exome sequencing reveals DNAJB6 mutations in dominantly‐inherited myopathy , 2012, Annals of neurology.

[6]  M. Hauser,et al.  Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy , 2012, Nature Genetics.

[7]  Hanns Lochmüller,et al.  Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency , 2011, Neurology.

[8]  M. Bromberg,et al.  Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy , 2011, Neurology.

[9]  J. Armstrong,et al.  Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy , 2011, Neuromuscular Disorders.

[10]  Robert H. Brown,et al.  Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. , 2011, American journal of human genetics.

[11]  D. Selcen.  Myofibrillar myopathies , 2011, Neuromuscular Disorders.

[12]  E. Lundberg,et al.  Towards a knowledge-based Human Protein Atlas , 2010, Nature Biotechnology.

[13]  K. Claeys,et al.  P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features , 2010, Neuromuscular Disorders.

[14]  R. Kley,et al.  The sarcomeric Z-disc component myopodin is a multiadapter protein that interacts with filamin and alpha-actinin. , 2010, European journal of cell biology.

[15]  M. Setou,et al.  Dominant-negative effects of a novel mutation in the filamin myopathy , 2010, Neurology.

[16]  Wei Zhang,et al.  A novel heterozygous deletion–insertion mutation (2695–2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family , 2010, Neuromuscular Disorders.

[17]  S. Haebel,et al.  Ponsin interacts with Nck adapter proteins: implications for a role in cytoskeletal remodelling during differentiation of skeletal muscle cells. , 2010, European journal of cell biology.

[18]  M. Hoch,et al.  Chaperone-Assisted Selective Autophagy Is Essential for Muscle Maintenance , 2010, Current Biology.

[19]  B. Schoser,et al.  Myofibrillar Myopathies: A Clinical and Myopathological Guide , 2009, Brain pathology.

[20]  H. Goebel.  Introduction , 2009, Brain pathology.

[21]  I. Ferrer,et al.  In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy , 2009, European Journal of Human Genetics.

[22]  F. Muntoni,et al.  Mutation in BAG3 causes severe dominant childhood muscular dystrophy , 2008, Annals of neurology.

[23]  J. Schisler,et al.  Build it up-Tear it down: protein quality control in the cardiac sarcomere. , 2008, Cardiovascular research.

[24]  C. Heyer,et al.  Distinct muscle imaging patterns in myofibrillar myopathies , 2008, Neurology.

[25]  C. Moncman,et al.  Nebulette interacts with filamin C. , 2008, Cell motility and the cytoskeleton.

[26]  C. Heyer,et al.  Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. , 2007, Brain : a journal of neurology.

[27]  A. Saltiel,et al.  Identification of CAP as a costameric protein that interacts with filamin C. , 2007, Molecular biology of the cell.

[28]  M. Vorgerd,et al.  The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy. , 2007, Human molecular genetics.

[29]  V. Rybin,et al.  Crystal structure of human filamin C domain 23 and small angle scattering model for filamin C 23-24 dimer. , 2007, Journal of molecular biology.

[30]  L. Kunkel,et al.  Loss of FilaminC (FLNc) Results in Severe Defects in Myogenesis and Myotube Structure , 2006, Molecular and Cellular Biology.

[31]  T. Holak,et al.  Filamins: promiscuous organizers of the cytoskeleton. , 2006, Trends in biochemical sciences.

[32]  Stefan Eulitz,et al.  Unusual splicing events result in distinct Xin isoforms that associate differentially with filamin c and Mena/VASP. , 2006, Experimental cell research.

[33]  S. Robertson,et al.  Mutations in two regions of FLNB result in atelosteogenesis I and III , 2006, Human mutation.

[34]  S. Robertson,et al.  A molecular and clinical study of Larsen syndrome caused by mutations in FLNB , 2006, Journal of Medical Genetics.

[35]  A. Sonnenberg,et al.  The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins , 2005, Journal of Cell Science.

[36]  Hanns Lochmüller,et al.  A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. , 2005, American journal of human genetics.

[37]  H. Goebel,et al.  Protein aggregate myopathies. , 2005, Neurology India.

[38]  N. Laing,et al.  A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles , 2005, Neurology.

[39]  C. Walsh,et al.  The many faces of filamin: A versatile molecular scaffold for cell motility and signalling , 2004, Nature Cell Biology.

[40]  B. Ozanne,et al.  New N-RAP-binding partners α-actinin, filamin and Krp1 detected by yeast two-hybrid screening: implications for myofibril assembly , 2003, Journal of Cell Science.

[41]  H. Goebel.  Congenital myopathies at their molecular dawning , 2003, Muscle & nerve.

[42]  Charles E. Schwartz,et al.  Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans , 2003, Nature Genetics.

[43]  Walter Stöcklein,et al.  The limits of promiscuity: isoform-specific dimerization of filamins. , 2003, Biochemistry.

[44]  E. Olson,et al.  Calsarcin-3, a Novel Skeletal Muscle-specific Member of the Calsarcin Family, Interacts with Multiple Z-disc Proteins* , 2002, The Journal of Biological Chemistry.

[45]  A. Sonnenberg,et al.  Structural and functional aspects of filamins. , 2001, Biochimica et biophysica acta.

[46]  J. Hartwig,et al.  Filamins as integrators of cell mechanics and signalling , 2001, Nature Reviews Molecular Cell Biology.

[47]  G. Lanfranchi,et al.  FATZ, a Filamin-, Actinin-, and Telethonin-binding Protein of the Z-disc of Skeletal Muscle* , 2000, The Journal of Biological Chemistry.

[48]  D. Fürst,et al.  Genomic structure and fine mapping of the two human filamin gene paralogues FLNB and FLNC and comparative analysis of the filamin gene family , 2000, Human Genetics.

[49]  S. Kempa,et al.  Indications for a Novel Muscular Dystrophy Pathway , 2000, The Journal of cell biology.

[50]  M. Gautel,et al.  Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. , 2000, Cell motility and the cytoskeleton.

[51]  Simon C Watkins,et al.  Filamin 2 (FLN2): A Muscle-specific Sarcoglycan Interacting Protein , 2000 .

[52]  Z. Xie,et al.  Molecular cloning of human ABPL, an actin-binding protein homologue. , 1998, Biochemical and biophysical research communications.

[53]  A. Engel,et al.  Myofibrillar Myopathy with Abnormal Foci of Desmin Positivity.: I. Light and Electron Microscopy Analysis of 10 Cases , 1996, Journal of neuropathology and experimental neurology.

[54]  E. Maestrini,et al.  Comparative mapping of the actin-binding protein 280 genes in human and mouse. , 1994, Genomics.

[55]  E. Maestrini,et al.  Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. , 1993, Human molecular genetics.

[56]  I. Nonaka,et al.  Filamin C plays an essential role in the maintenance of the structural integrity of cardiac and skeletal muscles, revealed by the medaka mutant zacro. , 2012, Developmental biology.

[57]  B. Udd.  Distal muscular dystrophies. , 2011, Handbook of clinical neurology.

[58]  L. Goldfarb,et al.  DNA sequencing errors in molecular diagnostics of filamin myopathy , 2010, Clinical chemistry and laboratory medicine.

[59]  P. Butler,et al.  Structural basis for vertebrate filamin dimerization. , 2005, Structure.

[60]  Simon C Watkins,et al.  Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. , 2001, Proceedings of the National Academy of Sciences of the United States of America.

[61]  [Distal muscular dystrophies]. , 1974, Wiener medizinische Wochenschrift.