(Q36514514)

14 August 2017

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title

Guilt by association: the nuclear envelope proteome and disease (English)

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14 August 2017

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1

Gavin S Wilkie

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14 August 2017

Eric C Schirmer

2

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14 August 2017

publication date

21 June 2006

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Molecular & Cellular Proteomics

14 August 2017

published in

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14 August 2017

volume

5

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14 August 2017

issue

10

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14 August 2017

page(s)

1865-1875

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The nuclear lamina comes of age.

14 August 2017

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

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

21 January 2018

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

21 January 2018

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The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein

21 January 2018

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TorsinA in the nuclear envelope

21 January 2018

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Lamin a truncation in Hutchinson-Gilford progeria.

21 January 2018

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

21 January 2018

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LMNA mutations in atypical Werner's syndrome

21 January 2018

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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

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21 January 2018

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21 January 2018

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21 January 2018

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Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery

21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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21 January 2018

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Nuclear envelopathies--raising the nuclear veil

21 January 2018

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Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.

21 January 2018

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Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene

21 January 2018

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Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

21 January 2018

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

21 January 2018

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21 January 2018

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Proteomic analysis of the mammalian nuclear pore complex

21 January 2018

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The MAN antigens are non-lamin constituents of the nuclear lamina in vertebrate cells

21 January 2018

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

21 January 2018

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The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines

21 January 2018

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Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane

21 January 2018

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21 January 2018

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21 January 2018

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An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database

21 January 2018

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High throughput protein characterization by automated reverse-phase chromatography/electrospray tandem mass spectrometry

21 January 2018

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Nuclear membrane proteins with potential disease links found by subtractive proteomics

21 January 2018

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LEM2 is a novel MAN1-related inner nuclear membrane protein associated with A-type lamins

21 January 2018

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Nesprin-3, a novel outer nuclear membrane protein, associates with the cytoskeletal linker protein plectin

21 January 2018

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21 January 2018

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Charcot-Marie-Tooth disease: an update

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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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Loss of the dystonia-associated protein torsinA selectively disrupts the neuronal nuclear envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

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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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Syne proteins anchor muscle nuclei at the neuromuscular junction

21 January 2018

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Differential expression of nuclear lamin proteins during chicken development

21 January 2018

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Induction of nuclear lamins A/C in macrophages in in vitro cultures of rat bone marrow precursor cells and human blood monocytes, and in macrophages elicited in vivo by thioglycollate stimulation

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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Large-scale analysis of the human and mouse transcriptomes

21 January 2018

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The nuclear membrane proteome: extending the envelope.

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Crystal structure of the human lamin A coil 2B dimer: implications for the head-to-tail association of nuclear lamins

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Multiple and surprising new functions for emerin, a nuclear membrane protein

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

A complex containing p34cdc2 and cyclin B phosphorylates the nuclear lamin and disassembles nuclei of clam oocytes in vitro

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Identification of cell cycle-regulated phosphorylation sites on nuclear lamin C

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

S-phase phosphorylation of lamin B2.

21 January 2018

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The binding of lamin B receptor to chromatin is regulated by phosphorylation in the RS region

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Dissociation of emerin from barrier-to-autointegration factor is regulated through mitotic phosphorylation of emerin in a xenopus egg cell-free system

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Congenital generalized lipodystrophy, mental retardation, deafness, short stature, and slender bones: a newly recognized syndrome?

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

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

21 January 2018

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https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FMCP.R600003-MCP200

10.1074/MCP.R600003-MCP200

21 January 2018

Identifiers

DOI

1 reference

14 August 2017

1 reference