Nuclear envelope proteins and neuromuscular diseases (Q35093315)

6 August 2017

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title

Nuclear envelope proteins and neuromuscular diseases (English)

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6 August 2017

Cecilia Ostlund

1

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6 August 2017

Howard J Worman

series ordinal

2

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6 August 2017

publication date

1 April 2003

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6 August 2017

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6 August 2017

volume

27

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6 August 2017

issue

4

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6 August 2017

page(s)

393-406

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Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease

6 August 2017

cites work

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Intermediate filament-related myopathies

21 January 2018

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Prenylated prelamin A interacts with Narf, a novel nuclear protein

21 January 2018

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Incorporation of a product of mevalonic acid metabolism into proteins of Chinese hamster ovary cell nuclei

21 January 2018

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The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase.

21 January 2018

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Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

21 January 2018

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Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease

21 January 2018

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Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

21 January 2018

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A- and B-type lamins are differentially expressed in normal human tissues

21 January 2018

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Dynamics of the nuclear envelope at mitosis and during apoptosis

21 January 2018

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Muscular dystrophy--reason for optimism?

21 January 2018

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Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNA

21 January 2018

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Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy

21 January 2018

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21 January 2018

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Direct interaction between emerin and lamin A

21 January 2018

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Transcriptional repression, apoptosis, human disease and the functional evolution of the nuclear lamina

21 January 2018

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Characterization of adiposity and metabolism in Lmna-deficient mice

21 January 2018

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Distribution of emerin during the cell cycle

21 January 2018

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Nuclear pore complexes form immobile networks and have a very low turnover in live mammalian cells

21 January 2018

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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

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Review: lamina-associated polypeptide 2 isoforms and related proteins in cell cycle-dependent nuclear structure dynamics

21 January 2018

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Structure of the globular tail of nuclear lamin

21 January 2018

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21 January 2018

The muscular dystrophies

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Emery-Dreifuss muscular dystrophy - a 40 year retrospective

21 January 2018

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Unusual type of benign x-linked muscular dystrophy

21 January 2018

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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

21 January 2018

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Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

21 January 2018

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Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation

21 January 2018

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Mutations in the LMNA gene encoding lamin A/C

21 January 2018

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Lamins A and C bind and assemble at the surface of mitotic chromosomes

21 January 2018

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The tail domain of lamin Dm0 binds histones H2A and H2B

21 January 2018

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Role for alpha-dystrobrevin in the pathogenesis of dystrophin-dependent muscular dystrophies

21 January 2018

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Review: nuclear lamins--structural proteins with fundamental functions

21 January 2018

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Dystroglycan: an extracellular matrix receptor linked to the cytoskeleton.

21 January 2018

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Dystrophin: the protein product of the Duchenne muscular dystrophy locus

21 January 2018

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Characterization of a second highly conserved B-type lamin present in cells previously thought to contain only a single B-type lamin

21 January 2018

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The nuclear envelope, lamins and nuclear assembly.

21 January 2018

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The human lamin B receptor/sterol reductase multigene family

21 January 2018

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Transcriptional repression of euchromatic genes by Drosophila heterochromatin protein 1 and histone modifiers

21 January 2018

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Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation

21 January 2018

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Nuclear organization of DNA replication in primary mammalian cells.

21 January 2018

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Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B.

21 January 2018

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The nuclear lamins. A multigene family of proteins in evolution and differentiation

21 January 2018

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Structural characterization of the LEM motif common to three human inner nuclear membrane proteins

21 January 2018

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Studies of the lamin proteinase reveal multiple parallel biochemical pathways during apoptotic execution

21 January 2018

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A previously unidentified host protein protects retroviral DNA from autointegration

21 January 2018

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Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae

21 January 2018

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MAN1, an inner nuclear membrane protein that shares the LEM domain with lamina-associated polypeptide 2 and emerin

21 January 2018

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Structural organization of the human gene (LMNB1) encoding nuclear lamin B1

21 January 2018

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Expression of Nuclear Lamins in Human Tissues and Cancer Cell Lines and Transcription from the Promoters of the Lamin A/C and B1 Genes

21 January 2018

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A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies

21 January 2018

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The retinoblastoma gene product is a cell cycle-dependent, nuclear matrix-associated protein

21 January 2018

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The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein

21 January 2018

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Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression

21 January 2018

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Nuclear envelope assembly after mitosis

21 January 2018

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Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins

21 January 2018

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Intermediate filaments in disease

21 January 2018

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Dystrobrevin deficiency at the sarcolemma of patients with muscular dystrophy.

21 January 2018

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Disruption of nuclear lamin organization blocks the elongation phase of DNA replication

21 January 2018

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Nuclear lamins A and B1: different pathways of assembly during nuclear envelope formation in living cells

21 January 2018

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Nuclear proteins and cell death in inherited neuromuscular disease

21 January 2018

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Heart to heart: from nuclear proteins to Emery-Dreifuss muscular dystrophy

21 January 2018

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The A-type lamins: nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases

21 January 2018

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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

21 January 2018

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Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy

21 January 2018

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A lamin-independent pathway for nuclear envelope assembly

21 January 2018

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Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C

21 January 2018

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Charcot-marie-tooth disease and related neuropathies: molecular basis for distinction and diagnosis

21 January 2018

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Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

21 January 2018

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Lamin proteolysis facilitates nuclear events during apoptosis

21 January 2018

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Integral membrane proteins specific to the inner nuclear membrane and associated with the nuclear lamina

21 January 2018

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LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

21 January 2018

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LAP2 binds to BAF.DNA complexes: requirement for the LEM domain and modulation by variable regions

21 January 2018

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Disruption of nuclear lamin organization alters the distribution of replication factors and inhibits DNA synthesis

21 January 2018

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Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

21 January 2018

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Mistargeting of B-type lamins at the end of mitosis: implications on cell survival and regulation of lamins A/C expression

21 January 2018

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Muscular dystrophies and the dystrophin-glycoprotein complex

21 January 2018

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Nuclear lamins: their structure, assembly, and interactions

21 January 2018

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Intermediate filament protein polymerization: molecular analysis of Drosophila nuclear lamin head-to-tail binding.

21 January 2018

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Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy

21 January 2018

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The role of cytoskeletal proteins in cardiomyopathies

21 January 2018

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Distinct regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery-Dreifuss muscular dystrophy

21 January 2018

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CDNA microarray analysis of gene expression in fibroblasts of patients with X-linked Emery-Dreifuss muscular dystrophy

21 January 2018

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Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy

21 January 2018

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Nuclear envelope and nuclear matrix: interactions and dynamics

21 January 2018

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The nuclear envelope, muscular dystrophy and gene expression

21 January 2018

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Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy

21 January 2018

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The inner nuclear membrane

21 January 2018

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The lamin B receptor of the nuclear envelope inner membrane: a polytopic protein with eight potential transmembrane domains

21 January 2018

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Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization

21 January 2018

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Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR

21 January 2018

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Protein-protein interactions between human nuclear lamins expressed in yeast

21 January 2018

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Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1

21 January 2018

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Barrier-to-autointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex

21 January 2018

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The R482Q lamin A/C mutation that causes lipodystrophy does not prevent nuclear targeting of lamin A in adipocytes or its interaction with emerin

21 January 2018

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Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations

21 January 2018

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The nuclear lamina is a meshwork of intermediate-type filaments

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MUS.10302

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6 August 2017

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