Literature DB >> 21225470

Laminopathies: the molecular background of the disease and the prospects for its treatment.

Magdalena Zaremba-Czogalla1, Magda Dubińska-Magiera, Ryszard Rzepecki.   

Abstract

Laminopathies are rare human degenerative disorders with a wide spectrum of clinical phenotypes, associated with defects in the main protein components of the nuclear envelope, mostly in the lamins. They include systemic disorders and tissue-restricted diseases. Scientists have been trying to explain the pathogenesis of laminopathies and find an efficient method for treatment for many years. In this review, we discuss the current state of knowledge about laminopathies, the molecular mechanisms behind the development of particular phenotypes, and the prospects for stem cell and/or gene therapy treatments.

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Year:  2010        PMID： 21225470      PMCID： PMC6275778          DOI： 10.2478/s11658-010-0038-9

Source DB:  PubMed          Journal:  Cell Mol Biol Lett        ISSN： 1425-8153            Impact factor:   5.787


  145 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.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

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.  Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.

Authors:  Hanna Drac; Agnieszka Madej-Pilarczyk; Krystyna Gospodarczyk-Szot; Małgorzata Gaweł; Hubert Kwieciński; Irena Hausmanowa-Petrusewicz
Journal:  Neurol Neurochir Pol       Date:  2010 May-Jun       Impact factor: 1.621

6.  Pathology and nuclear abnormalities in hearts of transgenic mice expressing M371K lamin A encoded by an LMNA mutation causing Emery-Dreifuss muscular dystrophy.

Authors:  Yuexia Wang; Alan J Herron; Howard J Worman
Journal:  Hum Mol Genet       Date:  2006-07-06       Impact factor: 6.150

7.  Unusual type of benign x-linked muscular dystrophy.

Authors:  A E Emery; F E Dreifuss
Journal:  J Neurol Neurosurg Psychiatry       Date:  1966-08       Impact factor: 10.154

8.  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

9.  Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations.

Authors:  Lindsay J Emerson; Mark R Holt; Matthew A Wheeler; Manfred Wehnert; Maddy Parsons; Juliet A Ellis
Journal:  Biochim Biophys Acta       Date:  2009-06-12

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

Authors:  Takuro Arimura; Anne Helbling-Leclerc; Catherine Massart; Shaida Varnous; Florence Niel; Emmanuelle Lacène; Yves Fromes; Marcel Toussaint; Anne-Marie Mura; Dagmar I Keller; Helge Amthor; Richard Isnard; Marie Malissen; Ketty Schwartz; Gisèle Bonne
Journal:  Hum Mol Genet       Date:  2004-11-17       Impact factor: 6.150
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  23 in total

Review 1.  Neurodegeneration the RNA way.

Authors:  Abigail J Renoux; Peter K Todd
Journal:  Prog Neurobiol       Date:  2011-11-03       Impact factor: 11.685

2.  Evolutionary changes in lamin expression in the vertebrate lineage.

Authors:  Reimer Stick; Annette Peter
Journal:  Nucleus       Date:  2017-04-21       Impact factor: 4.197

Review 3.  Genetics of Lipodystrophy.

Authors:  Marissa Lightbourne; Rebecca J Brown
Journal:  Endocrinol Metab Clin North Am       Date:  2017-02-22       Impact factor: 4.741

Review 4.  Beyond membrane channelopathies: alternative mechanisms underlying complex human disease.

Authors:  Konstantinos Dean Boudoulas; Peter J Mohler
Journal:  Acta Pharmacol Sin       Date:  2011-06       Impact factor: 6.150

Review 5.  Lamin A/C Cardiomyopathies: Current Understanding and Novel Treatment Strategies.

Authors:  Xi Wang; Allyson Zabell; Wonshill Koh; W H Wilson Tang
Journal:  Curr Treat Options Cardiovasc Med       Date:  2017-03

6.  Dysfunctional polycomb transcriptional repression contributes to lamin A/C-dependent muscular dystrophy.

Authors:  Andrea Bianchi; Chiara Mozzetta; Gloria Pegoli; Federica Lucini; Sara Valsoni; Valentina Rosti; Cristiano Petrini; Alice Cortesi; Francesco Gregoretti; Laura Antonelli; Gennaro Oliva; Marco De Bardi; Roberto Rizzi; Beatrice Bodega; Diego Pasini; Francesco Ferrari; Claudia Bearzi; Chiara Lanzuolo
Journal:  J Clin Invest       Date:  2020-05-01       Impact factor: 14.808

7.  Behavioral and molecular exploration of the AR-CMT2A mouse model Lmna (R298C/R298C).

Authors:  Yannick Poitelon; Serguei Kozlov; Jerôme Devaux; Jean-Michel Vallat; Marc Jamon; Pierre Roubertoux; Sitraka Rabarimeriarijaona; Cécile Baudot; Tarik Hamadouche; Colin L Stewart; Nicolas Levy; Valérie Delague
Journal:  Neuromolecular Med       Date:  2012-02-14       Impact factor: 3.843

8.  Targeted gene correction of laminopathy-associated LMNA mutations in patient-specific iPSCs.

Authors:  Guang-Hui Liu; Keiichiro Suzuki; Jing Qu; Ignacio Sancho-Martinez; Fei Yi; Mo Li; Sachin Kumar; Emmanuel Nivet; Jessica Kim; Rupa Devi Soligalla; Ilir Dubova; April Goebl; Nongluk Plongthongkum; Ho-Lim Fung; Kun Zhang; Jeanne F Loring; Louise C Laurent; Juan Carlos Izpisua Belmonte
Journal:  Cell Stem Cell       Date:  2011-05-19       Impact factor: 24.633

Review 9.  Advances in basic and clinical research in laminopathies.

Authors:  Luisa Politano; Nicola Carboni; Agnieszka Madej-Pilarczyk; Michael Marchel; Gerardo Nigro; Anna Fidziaóska; Grzegorz Opolski; Irena Hausmanowa-Petrusewicz
Journal:  Acta Myol       Date:  2013-05

10.  The different function of single phosphorylation sites of Drosophila melanogaster lamin Dm and lamin C.

Authors:  Magdalena Zaremba-Czogalla; Katarzyna Piekarowicz; Katarzyna Wachowicz; Katarzyna Kozioł; Magda Dubińska-Magiera; Ryszard Rzepecki
Journal:  PLoS One       Date:  2012-02-29       Impact factor: 3.240
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