A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.

PubWeight™: 4.75‹?› | Rank: Top 1%

🔗 View Article (PMID 9731540)

Published in Nat Genet on September 01, 1998

Authors

P Vicart1, A Caron, P Guicheney, Z Li, M C Prévost, A Faure, D Chateau, F Chapon, F Tomé, J M Dupret, D Paulin, M Fardeau

Author Affiliations

1: Institut Pasteur, Paris, France. pvicart@pasteur.fr

Articles citing this

(truncated to the top 100)

Congenital cataracts and their molecular genetics. Semin Cell Dev Biol (2007) 3.76

Human alpha B-crystallin mutation causes oxido-reductive stress and protein aggregation cardiomyopathy in mice. Cell (2007) 3.54

CHIP: a link between the chaperone and proteasome systems. Cell Stress Chaperones (2003) 2.98

Desmin-related cardiomyopathy in transgenic mice: a cardiac amyloidosis. Proc Natl Acad Sci U S A (2004) 2.32

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet (2001) 2.19

Mutation R120G in alphaB-crystallin, which is linked to a desmin-related myopathy, results in an irregular structure and defective chaperone-like function. Proc Natl Acad Sci U S A (1999) 2.18

Autophagy is an adaptive response in desmin-related cardiomyopathy. Proc Natl Acad Sci U S A (2008) 2.07

Mutation in BAG3 causes severe dominant childhood muscular dystrophy. Ann Neurol (2009) 2.03

Crystallin gene mutations in Indian families with inherited pediatric cataract. Mol Vis (2008) 2.00

A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet (2005) 1.95

Proteasome functional insufficiency activates the calcineurin-NFAT pathway in cardiomyocytes and promotes maladaptive remodelling of stressed mouse hearts. Cardiovasc Res (2010) 1.93

Autophagy in load-induced heart disease. Circ Res (2008) 1.89

Intermediate filaments: primary determinants of cell architecture and plasticity. J Clin Invest (2009) 1.88

CHIP deficiency decreases longevity, with accelerated aging phenotypes accompanied by altered protein quality control. Mol Cell Biol (2008) 1.82

Substrate binding site flexibility of the small heat shock protein molecular chaperones. Proc Natl Acad Sci U S A (2009) 1.78

Mitochondrial dysfunction and apoptosis underlie the pathogenic process in alpha-B-crystallin desmin-related cardiomyopathy. Circulation (2005) 1.72

Structure and mechanism of protein stability sensors: chaperone activity of small heat shock proteins. Biochemistry (2009) 1.71

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease. J Clin Invest (2009) 1.63

Protein kinase g positively regulates proteasome-mediated degradation of misfolded proteins. Circulation (2013) 1.62

Selective degradation of aggregate-prone CryAB mutants by HSPB1 is mediated by ubiquitin-proteasome pathways. J Mol Cell Cardiol (2010) 1.54

Solid-state NMR and SAXS studies provide a structural basis for the activation of alphaB-crystallin oligomers. Nat Struct Mol Biol (2010) 1.53

Reversal of amyloid-induced heart disease in desmin-related cardiomyopathy. Proc Natl Acad Sci U S A (2005) 1.49

Missense Mutations in CRYAB Are Liable for Recessive Congenital Cataracts. PLoS One (2015) 1.49

Runx1 prevents wasting, myofibrillar disorganization, and autophagy of skeletal muscle. Genes Dev (2005) 1.46

Myofibrillar myopathies. Neuromuscul Disord (2011) 1.45

Build it up-Tear it down: protein quality control in the cardiac sarcomere. Cardiovasc Res (2008) 1.42

Enhanced autophagy ameliorates cardiac proteinopathy. J Clin Invest (2013) 1.41

Distinct muscle imaging patterns in myofibrillar myopathies. Neurology (2008) 1.41

BAG3 and Hsc70 interact with actin capping protein CapZ to maintain myofibrillar integrity under mechanical stress. Circ Res (2010) 1.41

AlphaB-crystallin, a small heat-shock protein, prevents the amyloid fibril growth of an amyloid beta-peptide and beta2-microglobulin. Biochem J (2005) 1.41

N-terminal domain of alphaB-crystallin provides a conformational switch for multimerization and structural heterogeneity. Proc Natl Acad Sci U S A (2011) 1.36

Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol (2012) 1.35

A novel alphaB-crystallin mutation associated with autosomal dominant congenital lamellar cataract. Invest Ophthalmol Vis Sci (2006) 1.34

Severe muscle disease-causing desmin mutations interfere with in vitro filament assembly at distinct stages. Proc Natl Acad Sci U S A (2005) 1.30

Multiple molecular architectures of the eye lens chaperone αB-crystallin elucidated by a triple hybrid approach. Proc Natl Acad Sci U S A (2011) 1.30

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet (2002) 1.28

Locus heterogeneity in autosomal recessive congenital cataracts: linkage to 9q and germline HSF4 mutations. Hum Genet (2005) 1.27

Comparison of the small heat shock proteins alphaB-crystallin, MKBP, HSP25, HSP20, and cvHSP in heart and skeletal muscle. Histochem Cell Biol (2004) 1.26

Functions of the intermediate filament cytoskeleton in the eye lens. J Clin Invest (2009) 1.26

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms. J Cell Biol (2008) 1.25

Desmin-related cardiomyopathy: an unfolding story. Am J Physiol Heart Circ Physiol (2011) 1.24

Desmin aggregate formation by R120G alphaB-crystallin is caused by altered filament interactions and is dependent upon network status in cells. Mol Biol Cell (2004) 1.23

Pharmacological chaperone for α-crystallin partially restores transparency in cataract models. Science (2015) 1.22

Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle. J Clin Invest (2010) 1.21

Evolutionary diversity of vertebrate small heat shock proteins. J Mol Evol (2004) 1.20

Molecular adaptations of neuromuscular disease-associated proteins in response to eccentric exercise in human skeletal muscle. J Physiol (2002) 1.19

Desminopathies: pathology and mechanisms. Acta Neuropathol (2012) 1.17

Crystal structure of R120G disease mutant of human αB-crystallin domain dimer shows closure of a groove. J Mol Biol (2011) 1.17

Small heat shock protein activity is regulated by variable oligomeric substructure. J Biol Chem (2008) 1.17

The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy. Cardiovasc Res (2009) 1.16

Evidence for an essential function of the N terminus of a small heat shock protein in vivo, independent of in vitro chaperone activity. Proc Natl Acad Sci U S A (2005) 1.13

Single molecule force spectroscopy of the cardiac titin N2B element: effects of the molecular chaperone alphaB-crystallin with disease-causing mutations. J Biol Chem (2009) 1.13

Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. Proc Natl Acad Sci U S A (2001) 1.13

Exercise reverses preamyloid oligomer and prolongs survival in alphaB-crystallin-based desmin-related cardiomyopathy. Proc Natl Acad Sci U S A (2007) 1.12

Manipulation of death pathways in desmin-related cardiomyopathy. Circ Res (2010) 1.11

Intermediate filament diseases: desminopathy. Adv Exp Med Biol (2008) 1.11

Identification and validation of novel adipokines released from primary human adipocytes. Mol Cell Proteomics (2011) 1.10

Structural and functional changes in the alpha A-crystallin R116C mutant in hereditary cataracts. Biochemistry (2000) 1.08

The extracellular matrix and the cytoskeleton in heart hypertrophy and failure. Heart Fail Rev (2000) 1.06

Regulated structural transitions unleash the chaperone activity of αB-crystallin. Proc Natl Acad Sci U S A (2013) 1.06

Heat shock proteins and Drosophila aging. Exp Gerontol (2010) 1.05

Protective effect of geranylgeranylacetone via enhancement of HSPB8 induction in desmin-related cardiomyopathy. PLoS One (2009) 1.04

One size does not fit all: the oligomeric states of αB crystallin. FEBS Lett (2013) 1.04

Truncation of alphaB-crystallin by the myopathy-causing Q151X mutation significantly destabilizes the protein leading to aggregate formation in transfected cells. J Biol Chem (2008) 1.04

Genome-wide analysis and expression profiling of the small heat shock proteins in zebrafish. Gene (2007) 1.04

Constitutively active calcineurin induces cardiac endoplasmic reticulum stress and protects against apoptosis that is mediated by alpha-crystallin-B. Proc Natl Acad Sci U S A (2010) 1.03

Biochemical and mechanical dysfunction in a mouse model of desmin-related myopathy. Circ Res (2009) 1.02

Lamins in development, tissue maintenance and stress. EMBO Rep (2012) 1.02

Differential regulation of small heat shock proteins in transgenic mouse models of neurodegenerative diseases. Neurobiol Aging (2007) 1.00

Interactive sequences in the stress protein and molecular chaperone human alphaB crystallin recognize and modulate the assembly of filaments. Int J Biochem Cell Biol (2007) 1.00

Myofibrillar myopathies. Curr Opin Neurol (2008) 1.00

Ischemia-induced increase of stiffness of alphaB-crystallin/HSPB2-deficient myocardium. Pflugers Arch (2005) 1.00

Identification of the Drosophila ortholog of HSPB8: implication of HSPB8 loss of function in protein folding diseases. J Biol Chem (2010) 1.00

A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family. Mol Vis (2009) 1.00

A novel nonsense mutation in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea. Mol Vis (2009) 0.99

CRYAB and HSPB2 deficiency alters cardiac metabolism and paradoxically confers protection against myocardial ischemia in aging mice. Am J Physiol Heart Circ Physiol (2007) 0.99

Small heat shock proteins in redox metabolism: implications for cardiovascular diseases. Int J Biochem Cell Biol (2012) 0.99

Detection and architecture of small heat shock protein monomers. PLoS One (2010) 0.99

The sarcomeric Z-disc and Z-discopathies. J Biomed Biotechnol (2011) 0.99

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. Mol Vis (2009) 0.98

Mechanism of insolubilization by a single-point mutation in alphaA-crystallin linked with hereditary human cataracts. Biochemistry (2008) 0.98

Interactive sequences in the molecular chaperone, human alphaB crystallin modulate the fibrillation of amyloidogenic proteins. Int J Biochem Cell Biol (2007) 0.98

Confocal fluorescence resonance energy transfer microscopy study of protein-protein interactions of lens crystallins in living cells. Mol Vis (2007) 0.97

Primary desminopathies. J Cell Mol Med (2007) 0.97

Formation of GFAP cytoplasmic inclusions in astrocytes and their disaggregation by alphaB-crystallin. Am J Pathol (1999) 0.97

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. Eur J Hum Genet (2008) 0.97

Interactions and chaperone function of alphaA-crystallin with T5P gammaC-crystallin mutant. Protein Sci (2004) 0.97

Desmin mediates TNF-alpha-induced aggregate formation and intercalated disk reorganization in heart failure. J Cell Biol (2008) 0.96

Muscle creatine kinase deficiency triggers both actin depolymerization and desmin disorganization by advanced glycation end products in dilated cardiomyopathy. J Biol Chem (2011) 0.96

Regulation of cell survival and death by pyridine nucleotides. Circ Res (2012) 0.95

A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts. PLoS One (2011) 0.95

Gene duplication and separation of functions in alphaB-crystallin from zebrafish (Danio rerio). FEBS J (2006) 0.95

The protective and therapeutic function of small heat shock proteins in neurological diseases. Front Immunol (2012) 0.94

Effects of modifications of alpha-crystallin on its chaperone and other properties. Biochem J (2002) 0.94

Binding determinants of the small heat shock protein, αB-crystallin: recognition of the 'IxI' motif. EMBO J (2012) 0.94

Protein-protein interactions between lens vimentin and alphaB-crystallin using FRET acceptor photobleaching. Mol Vis (2008) 0.94

A combined laser microdissection and mass spectrometry approach reveals new disease relevant proteins accumulating in aggregates of filaminopathy patients. Mol Cell Proteomics (2012) 0.93

The small heat shock protein Hsp27 affects assembly dynamics and structure of keratin intermediate filament networks. Biophys J (2013) 0.93

Alpha crystallin: the quest for a homogeneous quaternary structure. Exp Eye Res (2008) 0.93

The ubiquitin-proteasome system and cardiovascular disease. Prog Mol Biol Transl Sci (2012) 0.93

Articles by these authors

(truncated to the top 100)

The sequence of the human genome. Science (2001) 101.55

The genome sequence of Drosophila melanogaster. Science (2000) 74.32

Comparative genomics of the eukaryotes. Science (2000) 26.62

U.S. householder survey of functional gastrointestinal disorders. Prevalence, sociodemography, and health impact. Dig Dis Sci (1993) 7.98

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell (1995) 7.73

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation (2001) 7.47

Prevention of neural-tube defects with folic acid in China. China-U.S. Collaborative Project for Neural Tube Defect Prevention. N Engl J Med (1999) 6.27

The evolution of H5N1 influenza viruses in ducks in southern China. Proc Natl Acad Sci U S A (2004) 5.87

Convergent domestication of cereal crops by independent mutations at corresponding genetic Loci. Science (1995) 5.52

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet (1999) 5.04

Inhibition of JNK activation through NF-kappaB target genes. Nature (2001) 5.03

Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis. Science (1998) 4.84

Trend tests for case-control studies of genetic markers: power, sample size and robustness. Hum Hered (2002) 4.64

Activation of the transcription factor MEF2C by the MAP kinase p38 in inflammation. Nature (1997) 4.59

Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet (1998) 4.38

IpaB of Shigella flexneri causes entry into epithelial cells and escape from the phagocytic vacuole. EMBO J (1992) 3.84

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nat Genet (1997) 3.79

Synthesis and fungicidal activity against Rhizoctonia solani of 2-alkyl (Alkylthio)-5-pyrazolyl-1,3,4-oxadiazoles (Thiadiazoles). J Agric Food Chem (2000) 3.78

Gene for chronic proximal spinal muscular atrophies maps to chromosome 5q. Nature (1990) 3.77

Characterization of the structure and function of a new mitogen-activated protein kinase (p38beta). J Biol Chem (1996) 3.63

Characterization of the structure and function of a novel MAP kinase kinase (MKK6). J Biol Chem (1996) 3.63

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Nat Genet (1998) 3.62

Nomenclature for N-acetyltransferases. Pharmacogenetics (1995) 3.59

Isoform-specific 3'-untranslated sequences sort alpha-cardiac and beta-cytoplasmic actin messenger RNAs to different cytoplasmic compartments. J Cell Biol (1993) 3.49

IpaB mediates macrophage apoptosis induced by Shigella flexneri. Mol Microbiol (1994) 3.27

Rat monoclonal antibodies against Aspergillus galactomannan. Infect Immun (1992) 3.23

Single-cell electroporation for gene transfer in vivo. Neuron (2001) 3.15

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet (1995) 3.05

RAG mutations in human B cell-negative SCID. Science (1996) 3.03

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients. J Clin Invest (2000) 3.02

Mice lacking vimentin develop and reproduce without an obvious phenotype. Cell (1994) 3.01

Heat shock proteins transfer peptides during antigen processing and CTL priming. Immunogenetics (1994) 2.88

Attenuated sensitivity to neuroactive steroids in gamma-aminobutyrate type A receptor delta subunit knockout mice. Proc Natl Acad Sci U S A (1999) 2.88

Killing of Aspergillus fumigatus by alveolar macrophages is mediated by reactive oxidant intermediates. Infect Immun (2003) 2.88

Effects of dog ownership in early childhood on immune development and atopic diseases. Clin Exp Allergy (2008) 2.86

Chimeric simian/human immunodeficiency virus that causes progressive loss of CD4+ T cells and AIDS in pig-tailed macaques. J Virol (1996) 2.86

Two distinct pathways leading to nuclear apoptosis. J Exp Med (2000) 2.84

Structural and magnetic phase diagram of CeFeAsO(1- x)F(x) and its relation to high-temperature superconductivity. Nat Mater (2008) 2.83

Mitochondrial release of caspase-2 and -9 during the apoptotic process. J Exp Med (1999) 2.79

Migratory activity and functional changes of green fluorescent effector cells before and during experimental autoimmune encephalomyelitis. Immunity (2001) 2.77

Identification and analysis of PH domain-containing targets of phosphatidylinositol 3-kinase using a novel in vivo assay in yeast. EMBO J (1998) 2.75

Superconductivity at 41 K and its competition with spin-density-wave instability in layered CeO1-xFxFeAs. Phys Rev Lett (2008) 2.72

Familial expression of anti-Saccharomyces cerevisiae mannan antibodies in affected and unaffected relatives of patients with Crohn's disease. Gut (2000) 2.71

Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. Am J Hum Genet (2001) 2.66

Mitochondrio-nuclear translocation of AIF in apoptosis and necrosis. FASEB J (2000) 2.65

Biodistribution and genetic stability of the novel antitumor agent VNP20009, a genetically modified strain of Salmonella typhimurium. J Infect Dis (2000) 2.63

Heat shock protein-peptide complexes, reconstituted in vitro, elicit peptide-specific cytotoxic T lymphocyte response and tumor immunity. J Exp Med (1997) 2.59

icsB: a Shigella flexneri virulence gene necessary for the lysis of protrusions during intercellular spread. Mol Microbiol (1992) 2.57

Activation of multiple antibiotic resistance and binding of stress-inducible promoters by Escherichia coli Rob protein. J Bacteriol (1995) 2.53

Permanent prostate seed implant brachytherapy: report of the American Association of Physicists in Medicine Task Group No. 64. Med Phys (1999) 2.47

Site-directed mutagenesis of the katG gene of Mycobacterium tuberculosis: effects on catalase-peroxidase activities and isoniazid resistance. Mol Microbiol (1996) 2.46

Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet (2001) 2.45

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics (1996) 2.44

Health status by gastrointestinal diagnosis and abuse history. Gastroenterology (1996) 2.41

The vacB gene required for virulence in Shigella flexneri and Escherichia coli encodes the exoribonuclease RNase R. J Biol Chem (1998) 2.41

Mutations in the essential spindle checkpoint gene bub1 cause chromosome missegregation and fail to block apoptosis in Drosophila. J Cell Biol (1999) 2.41

Inhibition of beta-ketoacyl-acyl carrier protein synthases by thiolactomycin and cerulenin. Structure and mechanism. J Biol Chem (2000) 2.39

The secreted Ipa complex of Shigella flexneri promotes entry into mammalian cells. Proc Natl Acad Sci U S A (1996) 2.37

Spontaneous breaking of time-reversal symmetry in the pseudogap state of a high-Tc superconductor. Nature (2002) 2.37

Characterization of the katG and inhA genes of isoniazid-resistant clinical isolates of Mycobacterium tuberculosis. Antimicrob Agents Chemother (1995) 2.36

Btk/Tec kinases regulate sustained increases in intracellular Ca2+ following B-cell receptor activation. EMBO J (1998) 2.36

Sulforaphane targets pancreatic tumour-initiating cells by NF-kappaB-induced antiapoptotic signalling. Gut (2008) 2.36

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia. Hum Mol Genet (1995) 2.30

Phosphatidylinositol-3,4,5-trisphosphate (PtdIns-3,4,5-P3)/Tec kinase-dependent calcium signaling pathway: a target for SHIP-mediated inhibitory signals. EMBO J (1998) 2.29

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27

Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III (1994) 2.22

Discovery of a small molecule insulin mimetic with antidiabetic activity in mice. Science (1999) 2.21

Hypoxia inducible factors in cancer stem cells. Br J Cancer (2010) 2.21

Maintenance of serotonin in the intestinal mucosa and ganglia of mice that lack the high-affinity serotonin transporter: Abnormal intestinal motility and the expression of cation transporters. J Neurosci (2001) 2.19

Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes. Cardiovasc Res (2000) 2.19

Ginsenoside-Rd improves outcome of acute ischaemic stroke - a randomized, double-blind, placebo-controlled, multicenter trial. Eur J Neurol (2012) 2.18

Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16

E2F3 contributes both to the inappropriate proliferation and to the apoptosis arising in Rb mutant embryos. Genes Dev (2001) 2.16

Interactions between biofilms and the environment. FEMS Microbiol Rev (1997) 2.13

Microtubule binding to Smads may regulate TGF beta activity. Mol Cell (2000) 2.09

Localization of the labile disulfide bond between SU and TM of the murine leukemia virus envelope protein complex to a highly conserved CWLC motif in SU that resembles the active-site sequence of thiol-disulfide exchange enzymes. J Virol (1997) 2.07

Cytoskeletal rearrangements and the functional role of T-plastin during entry of Shigella flexneri into HeLa cells. J Cell Biol (1995) 2.06

Intraarterial injection of muscle-derived CD34(+)Sca-1(+) stem cells restores dystrophin in mdx mice. J Cell Biol (2001) 2.06

Cloning of a novel T-cell protein FYB that binds FYN and SH2-domain-containing leukocyte protein 76 and modulates interleukin 2 production. Proc Natl Acad Sci U S A (1997) 2.05

Apoptosis signaling pathway in T cells is composed of ICE/Ced-3 family proteases and MAP kinase kinase 6b. Immunity (1997) 2.04

Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. J Med Genet (2003) 2.03

Elevated serum and synovial fluid TNF-like ligand 1A (TL1A) is associated with autoantibody production in patients with rheumatoid arthritis. Scand J Rheumatol (2013) 2.02

A nonvirulent mutant of Listeria monocytogenes does not move intracellularly but still induces polymerization of actin. Infect Immun (1990) 2.00

Benign notochordal cell tumour: case report. Diagn Interv Imaging (2013) 1.99

The translesion DNA polymerase zeta plays a major role in Ig and bcl-6 somatic hypermutation. Immunity (2001) 1.98

Invasion of epithelial cells by Shigella flexneri induces tyrosine phosphorylation of cortactin by a pp60c-src-mediated signalling pathway. EMBO J (1995) 1.95

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. Nat Med (1999) 1.94

Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle. J Cell Biol (1997) 1.94

The function of the human homolog of Saccharomyces cerevisiae REV1 is required for mutagenesis induced by UV light. Proc Natl Acad Sci U S A (2000) 1.89

E-cadherin-mediated cell-cell attachment activates Cdc42. J Biol Chem (2000) 1.87

Modulation of host response to Escherichia coli o157:H7 infection by anti-CD18 antibody in rabbits. Gastroenterology (1994) 1.85

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol (2000) 1.84

Polyoma virus T antigen. I. Synthesis of modified heat-labile T angiten in cells transformed with the ts-a mutant. J Virol (1975) 1.82

Intravascular brachytherapy physics: report of the AAPM Radiation Therapy Committee Task Group no. 60. American Association of Physicists in Medicine. Med Phys (1999) 1.82

Rings and filaments of beta protein from bacteriophage lambda suggest a superfamily of recombination proteins. Proc Natl Acad Sci U S A (1999) 1.81

The central nervous system and carbon monoxide poisoning. II. Anatomical study of brain lesions following intoxication with carbon monixide (22 cases). Prog Brain Res (1967) 1.80

Cardiovascular lesions and skeletal myopathy in mice lacking desmin. Dev Biol (1996) 1.80

Cadherin expression is required for the spread of Shigella flexneri between epithelial cells. Cell (1994) 1.79

Splicing factor Prp8 governs U4/U6 RNA unwinding during activation of the spliceosome. Mol Cell (1999) 1.78

Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet (2005) 1.78