(Q34569468)

3 August 2017

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title

Laminopathies: multiple disorders arising from defects in nuclear architecture (English)

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3 August 2017

Veena K Parnaik

1

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3 August 2017

Kaliyaperumal Manju

series ordinal

2

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3 August 2017

publication date

1 September 2006

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3 August 2017

published in

Journal of Biosciences

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3 August 2017

volume

31

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3 August 2017

issue

3

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3 August 2017

page(s)

405-421

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Deficient DNA repair in the human progeroid disorder, Werner syndrome

3 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FBF02704113

Dissociation of Oct-1 from the nuclear peripheral structure induces the cellular aging-associated collagenase gene expression

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02704113

Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FBF02704113

Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

Mouse model carrying H222P- Lmna mutation develops muscular dystrophy and dilated cardiomyopathy similar to human striated muscle laminopathies

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12 December 2020

Lamin a truncation in Hutchinson-Gilford progeria.

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12 December 2020

Molecular genetic analysis of the nested Drosophila melanogaster lamin C gene

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12 December 2020

Unusual type of benign x-linked muscular dystrophy

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12 December 2020

Cell cycle checkpoint signaling through the ATM and ATR kinases

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12 December 2020

DNA repair, genome stability, and aging

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12 December 2020

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

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12 December 2020

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

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12 December 2020

Dynamic properties of nuclear lamins: lamin B is associated with sites of DNA replication

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12 December 2020

Nuclear envelope defects associated with LMNA mutations cause dilated cardiomyopathy and Emery-Dreifuss muscular dystrophy

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12 December 2020

Pathway of incorporation of microinjected lamin A into the nuclear envelope

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12 December 2020

A-type lamins: guardians of the soma?

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12 December 2020

Structure of the globular tail of nuclear lamin

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12 December 2020

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

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12 December 2020

The nucleoskeleton: lamins and actin are major players in essential nuclear functions

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12 December 2020

Decreased mechanical stiffness in LMNA-/- cells is caused by defective nucleo-cytoskeletal integrity: implications for the development of laminopathies.

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12 December 2020

Regulated chromosomal DNA replication in the absence of a nucleus

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12 December 2020

Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study.

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12 December 2020

Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome

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12 December 2020

Accelerated ageing in mice deficient in Zmpste24 protease is linked to p53 signalling activation.

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12 December 2020

Altered protein dynamics of disease-associated lamin A mutants

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12 December 2020

Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration

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12 December 2020

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

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12 December 2020

Inactivation of MyoD in mice leads to up-regulation of the myogenic HLH gene Myf-5 and results in apparently normal muscle development.

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12 December 2020

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

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12 December 2020

Laminopathies: multisystem dystrophy syndromes

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12 December 2020

Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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12 December 2020

Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein

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12 December 2020

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

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12 December 2020

LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

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12 December 2020

Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C

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12 December 2020

Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome

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12 December 2020

Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation

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12 December 2020

Lamin A/C speckles mediate spatial organization of splicing factor compartments and RNA polymerase II transcription

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12 December 2020

The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene

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12 December 2020

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria

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12 December 2020

A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

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12 December 2020

Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy

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12 December 2020

Proteins that bind A-type lamins: integrating isolated clues

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12 December 2020

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

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12 December 2020

A lamin-independent pathway for nuclear envelope assembly

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12 December 2020

A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

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12 December 2020

Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome

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12 December 2020

A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

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12 December 2020

Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle

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12 December 2020

How do mutations in lamins A and C cause disease?

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12 December 2020

The role of lamin LIII in nuclear assembly and DNA replication, in cell-free extracts of Xenopus eggs

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12 December 2020

The nesprins are giant actin-binding proteins, orthologous to Drosophila melanogaster muscle protein MSP-300

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12 December 2020

Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction.

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12 December 2020

Genomic instability in laminopathy-based premature aging

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12 December 2020

Expression of lamin A mutated in the carboxyl-terminal tail generates an aberrant nuclear phenotype similar to that observed in cells from patients with Dunnigan-type partial lipodystrophy and Emery-Dreifuss muscular dystrophy

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12 December 2020

Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition

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12 December 2020

Purification and biochemical characterization of interchromatin granule clusters

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12 December 2020

A progeroid syndrome in mice is caused by defects in A-type lamins

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12 December 2020

Inhibiting farnesylation reverses the nuclear morphology defect in a HeLa cell model for Hutchinson-Gilford progeria syndrome

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12 December 2020

A-type nuclear lamins, progerias and other degenerative disorders.

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12 December 2020

The DNA damage response: putting checkpoints in perspective

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12 December 2020

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

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12 December 2020

Expression of Drosophila lamin C is developmentally regulated: analogies with vertebrate A-type lamins

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12 December 2020

A mitotic lamin B matrix induced by RanGTP required for spindle assembly

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12 December 2020

Polycomb and trithorax group proteins mediate the function of a chromatin insulator.

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12 December 2020

Lamin B1 is required for mouse development and nuclear integrity

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12 December 2020

Nuclear organization of DNA replication in primary mammalian cells.

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12 December 2020

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

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12 December 2020

Lamin proteins form an internal nucleoskeleton as well as a peripheral lamina in human cells

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12 December 2020

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12 December 2020

The nuclear envelope, muscular dystrophy and gene expression

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12 December 2020

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene

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12 December 2020

Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

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12 December 2020

Prelamin A and lamin A appear to be dispensable in the nuclear lamina

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12 December 2020

Nuclear lamins, diseases and aging

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12 December 2020

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

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12 December 2020

Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome

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12 December 2020

Checking on DNA damage in S phase

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12 December 2020

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

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12 December 2020

Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less)

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12 December 2020

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12 December 2020

GST-lamin fusion proteins act as dominant negative mutants in Xenopus egg extract and reveal the function of the lamina in DNA replication.

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12 December 2020

Defects in nuclear structure and function promote dilated cardiomyopathy in lamin A/C-deficient mice

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12 December 2020

Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.

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12 December 2020

Hutchinson-Gilford progeria mutant lamin A primarily targets human vascular cells as detected by an anti-Lamin A G608G antibody

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12 December 2020

Primary prevention of sudden death in patients with lamin A/C gene mutations.

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12 December 2020

ANChors away: an actin based mechanism of nuclear positioning

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12 December 2020

Lamina-associated polypeptide 2alpha binds intranuclear A-type lamins

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12 December 2020

Histone H2A variants H2AX and H2AZ

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12 December 2020

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

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12 December 2020

Null mutants of Drosophila B-type lamin Dm(0) show aberrant tissue differentiation rather than obvious nuclear shape distortion or specific defects during cell proliferation

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12 December 2020

The inner nuclear membrane protein Sun1 mediates the anchorage of Nesprin-2 to the nuclear envelope

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12 December 2020

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

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12 December 2020

Expression of disease-causing lamin A mutants impairs the formation of DNA repair foci

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12 December 2020

Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

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12 December 2020

Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations

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12 December 2020

Effects of expressing lamin A mutant protein causing Emery-Dreifuss muscular dystrophy and familial partial lipodystrophy in HeLa cells

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12 December 2020

Dynamics of the nuclear lamina as monitored by GFP-tagged A-type lamins.

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12 December 2020

The nuclear lamina comes of age.

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12 December 2020

The Functions of Klarsicht and Nuclear Lamin in Developmentally Regulated Nuclear Migrations of Photoreceptor Cells in theDrosophilaEye

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12 December 2020

Colocalization of intranuclear lamin foci with RNA splicing factors

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12 December 2020

A nuclear lamin is required for cytoplasmic organization and egg polarity in Drosophila

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12 December 2020

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

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12 December 2020

Distinct changes in intranuclear lamin A/C organization during myoblast differentiation

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12 December 2020

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

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12 December 2020

Nuclear titin interacts with A- and B-type lamins in vitro and in vivo

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12 December 2020

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype

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12 December 2020

Defective prelamin A processing and muscular and adipocyte alterations in Zmpste24 metalloproteinase-deficient mice.

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12 December 2020

Both lamin A and lamin C mutations cause lamina instability as well as loss of internal nuclear lamin organization.

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12 December 2020

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis

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12 December 2020

A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones

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12 December 2020

Aneuploidy analysis in fibroblasts of human premature aging syndromes by FISH during in vitro cellular aging

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12 December 2020

The Dynamics of Chromosome Organization and Gene Regulation

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12 December 2020

Correction of cellular phenotypes of Hutchinson-Gilford Progeria cells by RNA interference

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12 December 2020

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

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12 December 2020

The single nuclear lamin of Caenorhabditis elegans forms in vitro stable intermediate filaments and paracrystals with a reduced axial periodicity

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12 December 2020

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

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12 December 2020

Nuclear lamins: building blocks of nuclear architecture

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

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12 December 2020

LMNA mutations in atypical Werner's syndrome

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12 December 2020

Remodelling of the nuclear lamina and nucleoskeleton is required for skeletal muscle differentiation in vitro.

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12 December 2020

A proteolytic pathway that controls the cholesterol content of membranes, cells, and blood

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12 December 2020

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy

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12 December 2020

Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

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12 December 2020

Properties of lamin A mutants found in Emery-Dreifuss muscular dystrophy, cardiomyopathy and Dunnigan-type partial lipodystrophy

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12 December 2020

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

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12 December 2020

Nuclear lamins: their structure, assembly, and interactions

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12 December 2020

Sequestration of pRb by cyclin D3 causes intranuclear reorganization of lamin A/C during muscle cell differentiation.

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12 December 2020

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

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12 December 2020

Lamina-associated polypeptide 2alpha regulates cell cycle progression and differentiation via the retinoblastoma-E2F pathway.

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12 December 2020

Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation.

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12 December 2020

Alteration of nuclear lamin organization inhibits RNA polymerase II-dependent transcription

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12 December 2020

Lamin A-dependent nuclear defects in human aging

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12 December 2020

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12 December 2020

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

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12 December 2020

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

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12 December 2020

On the occurrence of a fibrous lamina on the inner aspect of the nuclear envelope in certain cells of vertebrates

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12 December 2020

A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

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12 December 2020

Integration of a growth-suppressing BTB/POZ domain protein with the DP component of the E2F transcription factor

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12 December 2020

A-type lamins are essential for TGF-beta1 induced PP2A to dephosphorylate transcription factors

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12 December 2020

Complex formation between lamin A and the retinoblastoma gene product: identification of the domain on lamin A required for its interaction

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12 December 2020

Cardiovascular lesions and skeletal myopathy in mice lacking desmin.

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12 December 2020

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

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12 December 2020

In vivo and in vitro interaction between human transcription factor MOK2 and nuclear lamin A/C.

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12 December 2020

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

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12 December 2020

Expression of an LMNA-N195K variant of A-type lamins results in cardiac conduction defects and death in mice.

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12 December 2020

Zmpste24 deficiency in mice causes spontaneous bone fractures, muscle weakness, and a prelamin A processing defect.

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12 December 2020

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

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12 December 2020

Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment

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12 December 2020

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene

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12 December 2020

Expression of a mutant lamin A that causes Emery-Dreifuss muscular dystrophy inhibits in vitro differentiation of C2C12 myoblasts

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12 December 2020

Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene

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12 December 2020

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

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12 December 2020

Identifiers

DOI

10.1007/BF02704113

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Dimensions Publication ID

3 August 2017

1020016188

0 references

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