Literature DB >> 27783855

Diseases of the Nucleoskeleton.

James M Holaska1.   

Abstract

The nucleus is separated from the cytosol by the nuclear envelope, which is a double lipid bilayer composed of the outer nuclear membrane and the inner nuclear membrane. The intermediate filament proteins lamin A, lamin B, and lamin C form a network underlying the inner nuclear membrane. This proteinaceous network provides the nucleus with its strength, rigidity, and elasticity. Positioned within the inner nuclear membrane are more than 150 inner nuclear membrane proteins, many of which interact directly with lamins and require lamins for their inner nuclear membrane localization. Inner nuclear membrane proteins and the nuclear lamins define the nuclear lamina. These inner nuclear membrane proteins have tissue-specific expression and diverse functions including regulating cytoskeletal organization, nuclear architecture, cell cycle dynamics, and genomic organization. Loss or mutations in lamins and inner nuclear membrane proteins cause a wide spectrum of diseases. Here, I will review the functions of the well-studied nuclear lamina proteins and the diseases associated with loss or mutations in these proteins. © 2016 American Physiological Society. Compr Physiol 6:1655-1674, 2016.
Copyright © 2016 John Wiley & Sons, Inc.

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Year:  2016        PMID: 27783855      PMCID: PMC6075693          DOI: 10.1002/cphy.c150039

Source DB:  PubMed          Journal:  Compr Physiol        ISSN: 2040-4603            Impact factor:   9.090


  331 in total

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

Authors:  H Cao; R A Hegele
Journal:  Hum Mol Genet       Date:  2000-01-01       Impact factor: 6.150

2.  Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC).

Authors:  Ramars Amanchy; Dario E Kalume; Akiko Iwahori; Jun Zhong; Akhilesh Pandey
Journal:  J Proteome Res       Date:  2005 Sep-Oct       Impact factor: 4.466

3.  An emerin "proteome": purification of distinct emerin-containing complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture.

Authors:  James M Holaska; Katherine L Wilson
Journal:  Biochemistry       Date:  2007-07-10       Impact factor: 3.162

Review 4.  Laminopathies and the long strange trip from basic cell biology to therapy.

Authors:  Howard J Worman; Loren G Fong; Antoine Muchir; Stephen G Young
Journal:  J Clin Invest       Date:  2009-07-01       Impact factor: 14.808

5.  In-depth qualitative and quantitative profiling of tyrosine phosphorylation using a combination of phosphopeptide immunoaffinity purification and stable isotope dimethyl labeling.

Authors:  Paul J Boersema; Leong Yan Foong; Vanessa M Y Ding; Simone Lemeer; Bas van Breukelen; Robin Philp; Jos Boekhorst; Berend Snel; Jeroen den Hertog; Andre B H Choo; Albert J R Heck
Journal:  Mol Cell Proteomics       Date:  2009-09-21       Impact factor: 5.911

Review 6.  Striated muscle laminopathies.

Authors:  Feriel Azibani; Antoine Muchir; Nicolas Vignier; Gisèle Bonne; Anne T Bertrand
Journal:  Semin Cell Dev Biol       Date:  2014-01-15       Impact factor: 7.727

7.  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.

Authors:  Hans R Waterham; Janet Koster; Petra Mooyer; Gerard van Noort Gv; Richard I Kelley; William R Wilcox; Ronald J A Wanders; Raoul C M Hennekam; Jan C Oosterwijk
Journal:  Am J Hum Genet       Date:  2003-02-28       Impact factor: 11.025

Review 8.  The nuclear lamina as a gene-silencing hub.

Authors:  Yuri Y Shevelyov; Dmitry I Nurminsky
Journal:  Curr Issues Mol Biol       Date:  2011-07-28       Impact factor: 2.081

9.  Interaction of torsinA with its major binding partners is impaired by the dystonia-associated DeltaGAG deletion.

Authors:  Teresa V Naismith; Seema Dalal; Phyllis I Hanson
Journal:  J Biol Chem       Date:  2009-08-03       Impact factor: 5.157

10.  Cell type-specific expression of nuclear lamina proteins during development of Xenopus laevis.

Authors:  R Benavente; G Krohne; W W Franke
Journal:  Cell       Date:  1985-05       Impact factor: 41.582

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  2 in total

1.  Histone acetyltransferase inhibition rescues differentiation of emerin-deficient myogenic progenitors.

Authors:  Katherine A Bossone; Joseph A Ellis; James M Holaska
Journal:  Muscle Nerve       Date:  2020-05-06       Impact factor: 3.217

2.  MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells.

Authors:  Carol M Collins; Joseph A Ellis; James M Holaska
Journal:  Dis Model Mech       Date:  2017-02-10       Impact factor: 5.758

  2 in total

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