Nuclear alterations in autosomal‐dominant Emery‐Dreifuss muscular dystrophy

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Muscle and Nerve

• Publication date

  2001-06-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1002/mus.1076PMID 11360268
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• The nuclear envelope, muscular dystrophy and gene expression.

  2000cited by this paper
• Loss of a-Type Lamin Expression Compromises Nuclear Envelope Integrity Leading to Muscular Dystrophy

  1999cited by this paper
• Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

  1999influential reference
• Nuclear changes in a case of X‐linked Emery‐Dreifuss muscular dystrophy

  1999cited by this paper
• The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane.

  1999cited by this paper
• Lamin A is part of the internal nucleoskeleton of human erythroleukemia cells

  1999cited by this paper
• Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD).

  1998cited by this paper
• Immunocytochemical detection of emerin within the nuclear matrix.

  1997cited by this paper
• Insertional Mutation of the Drosophila Nuclear Lamin Dm0 Gene Results in Defective Nuclear Envelopes, Clustering of Nuclear Pore Complexes, and Accumulation of Annulate Lamellae

  1997cited by this paper
• Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells.

  1995cited by this paper
• Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy

  1994cited by this paper

• Computational histology reveals that concomitant application of insect repellent with sunscreen impairs UV protection in an ex vivo human skin model

  2025cites this paper
• Investigating the differential structural organization and gene expression regulatory networks of lamin A Ig fold domain mutants of muscular dystrophy

  2024cites this paper
• Leukocyte Nuclear Morphology Alterations in Dilated Cardiomyopathy Caused by a Lamin AC Truncating Mutation (LMNA/Ser431*) Are Modified by the Presence of a LAP2 Missense Polymorphism (TMPO/Arg690Cys)

  2022cites this paper
• Current Methods and Pipelines for Image-Based Quantitation of Nuclear Shape and Nuclear Envelope Abnormalities

  2022cites this paper
• Skeletal and Cardiac Muscle Disorders Caused by Mutations in Genes Encoding Intermediate Filament Proteins

  2021cites this paper
• Lamin A/C Is Dispensable to Mechanical Repression of Adipogenesis

  2021cites this paper
• Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies

  2021cites this paper
• AGING AND ALZHEIMER´S DISEASE CONNECTION: NUCLEAR TAU AND LAMIN A.

  2021cites this paper
• Lamin A/C functions independently from mechanical signaling during adipogenesis

  2020cites this paper
• Lamin A/C Mechanotransduction in Laminopathies

  2020cites this paper
• Perinuclear Lamin A and Nucleoplasmic Lamin B2 Characterize Two Types of Hippocampal Neurons through Alzheimer’s Disease Progression

  2020cites this paper
• Muscular Dystrophies and Allied Disorders IV

  2020cites this paper
• Emerging roles of lamins and DNA damage repair mechanisms in ovarian cancer.

  2020cites this paper
• Nuclear phosphoinositides and phase separation: Important players in nuclear compartmentalization.

  2019cites this paper
• Laminopathies : A consequence of mechanical stress or gene expression disturbances ?

  2017cites this paper
• Tissue-specific genome editing of laminA/C in the posterior silk glands of Bombyx mori.

  2017cites this paper
• The Nucleoskeleton.

  2017cites this paper
• Clinical features and therapeutic strategies for managing the striated muscle laminopathies

  2016cites this paper
• Tissue specific loss of A-type lamins in the gastrointestinal epithelium can enhance polyp size.

  2015cites this paper
• Selenoproteins protect against avian nutritional muscular dystrophy by metabolizing peroxides and regulating redox/apoptotic signaling.

  2015cites this paper
• Emerin in health and disease.

  2014cites this paper
• Emery-Dreifuss Muscular Dystrophy: Nuclear Envelopathies

  2014cites this paper
• Diverse lamin-dependent mechanisms interact to control chromatin dynamics

  2014cites this paper
• Proteins of the Nuclear Membrane and Matrix

  2013cites this paper
• Laminopathies: One Gene, Two Proteins, Five Diseases..

  2013cites this paper
• Nuclear damages and oxidative stress: new perspectives for laminopathies

  2012cites this paper
• Nuclear Envelope Dynamics in Embryos and Somatic Cells

  2012cites this paper
• Cytoskeleton and Human Disease

  2012cites this paper
• Emery-Dreifuss muscular dystrophy.

  2011cites this paper
• Uncoordinated Transcription and Compromised Muscle Function in the Lmna-Null Mouse Model of Emery-Dreifuss Muscular Dystrophy

  2011cites this paper
• Muscular laminopathies: role of prelamin A in early steps of muscle differentiation.

  2011cites this paper
• Barrier-to-Autointegration Factor influences specific histone modifications

  2011cites this paper
• The role of lamin A and emerin in mediating genome organisation

  2010cites this paper
• Protein Tpr is required for establishing nuclear pore-associated zones of heterochromatin exclusion

  2010cites this paper
• Morphological Analysis of 13 LMNA Variants Identified in a Cohort of 324 Unrelated Patients With Idiopathic or Familial Dilated Cardiomyopathy

  2010cites this paper
• Lamin-binding Proteins.

  2010cites this paper
• Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B.

  2009cites this paper
• Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.

  2009cites this paper
• Emerin increase in regenerating muscle fibers.

  2009cites this paper
• Nuclear lamins: key regulators of nuclear structure and activities

  2009cites this paper
• Nuclear lamins and chromatin: when structure meets function.

  2009influential citation
• Autophagic degradation of nuclear components in mammalian cells

  2009cites this paper
• Obliteration of cardiomyocyte nuclear architecture in a patient with LMNA gene mutation.

  2008cites this paper
• Nuclear architecture remodelling in cardiomyocytes with lamin A deficiency.

  2008cites this paper
• Myonuclear Degeneration in LMNA Null Mice

  2008cites this paper
• Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.

  2008influential citation
• MOLECULAR AND CELLULAR MECHANISMS CONTRIBUTING TO THE ACCELERATED AGING PHENOTYPE IN HUTCHINSON-GILFORD PROGERIA SYNDROME

  2008cites this paper
• Nuclear architecture remodelling in cardiomyocytes with

  2008cites this paper
• Disorders of Skeletal Muscle

  2008cites this paper
• Nuclear architecture remodelling in envelopathies.

  2007cites this paper
• The nuclear envelope, human genetic diseases and ageing.

  2007cites this paper
• Involvement of prelamin A in laminopathies.

  2007cites this paper
• Primary laminopathy fibroblasts display altered genome organization and apoptosis

  2007cites this paper
• Gene silencing at the nuclear periphery

  2007cites this paper
• Lipodystrophic Mandibuloacral Dysplasia Type A Phenotype Compound Heterozygosity for Mutations in LMNA in a Patient with a Myopathic and

  2007cites this paper
• The laminopathies: the functional architecture of the nucleus and its contribution to disease.

  2006cites this paper
• Laminopathies: a chromatin affair.

  2006cites this paper
• Nuclear lamins: laminopathies and their role in premature ageing.

  2006cites this paper
• Nuclear envelope proteins and chromatin arrangement: a pathogenic mechanism for laminopathies.

  2006cites this paper
• Emery-Dreifuss muscular dystrophy at the nuclear envelope: 10 years on

  2006cites this paper
• The nuclear-envelope protein and transcriptional repressor LAP2β interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation

  2005cites this paper
• Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

  2005cites this paper
• Emerin expression in early development of Xenopus laevis.

  2005cites this paper
• Implications for nuclear organization and gene transcription of lamin A/C specific mutations.

  2005cites this paper
• Lamins A and C are differentially dysfunctional in autosomal dominant Emery-Dreifuss muscular dystrophy.

  2005cites this paper
• Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

  2005cites this paper
• Linkage of lamins to fidelity of gene transcription.

  2005cites this paper
• Laminopathies: Involvement of structural nuclear proteins in the pathogenesis of an increasing number of human diseases

  2005cites this paper
• Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery–Dreifuss muscular dystrophy

  2005cites this paper
• Molecular clues into the pathogenesis of statin‐mediated muscle toxicity

  2005cites this paper
• Nuclear envelope, nuclear lamina, and inherited disease.

  2005cites this paper
• Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy.

  2005cites this paper
• Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.

  2005cites this paper
• Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

  2004cites this paper
• Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B)

  2004cites this paper
• New roles for lamins, nuclear envelope proteins and actin in the nucleus.

  2004cites this paper
• Structural organization and functions of the nucleus in development, aging, and disease.

  2004cites this paper
• Kernhüllenerkrankungen - Eine neue Gruppe neuromuskulärer, kardiologischer und endokrinologischer Erkrankungen

  2003cites this paper
• At the nucleus of the problem: nuclear proteins and disease.

  2003cites this paper
• Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD.

  2003cites this paper
• Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.

  2003cites this paper
• Emery-Dreifuss muscular dystrophy

  2002cites this paper
• Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy.

  2002cites this paper
• Muscular dystrophies, dilated cardiomyopathy, lipodystrophy and neuropathy: the nuclear connection

  2002cites this paper