Literature DB >> 31299860

Pathogenic mutations in genes encoding nuclear envelope proteins and defective nucleocytoplasmic connections.

Cecilia Östlund1,2, Wakam Chang2, Gregg G Gundersen2, Howard J Worman1,2.   

Abstract

Keywords:  Lamin; SUN protein; linker of nucleoskeleton and cytoskeleton complex complex; nesprin; nuclear envelope

Year:  2019        PMID： 31299860      PMCID： PMC6880145          DOI： 10.1177/1535370219862243

Source DB:  PubMed          Journal:  Exp Biol Med (Maywood)        ISSN： 1535-3699


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  148 in total

Review 1.  The nuclear pore complex and nuclear transport.

Authors:  Susan R Wente; Michael P Rout
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-07-14       Impact factor: 10.005

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

Authors:  M Raffaele Di Barletta; E Ricci; G Galluzzi; P Tonali; M Mora; L Morandi; A Romorini; T Voit; K H Orstavik; L Merlini; C Trevisan; V Biancalana; I Housmanowa-Petrusewicz; S Bione; R Ricotti; K Schwartz; G Bonne; D Toniolo
Journal:  Am J Hum Genet       Date:  2000-03-16       Impact factor: 11.025

3.  Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins.

Authors:  F D McKeon; M W Kirschner; D Caput
Journal:  Nature       Date:  1986 Feb 6-12       Impact factor: 49.962

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

Authors:  D Fatkin; C MacRae; T Sasaki; M R Wolff; M Porcu; M Frenneaux; J Atherton; H J Vidaillet; S Spudich; U De Girolami; J G Seidman; C Seidman; F Muntoni; G Müehle; W Johnson; B McDonough
Journal:  N Engl J Med       Date:  1999-12-02       Impact factor: 91.245

5.  Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia.

Authors:  François Gros-Louis; Nicolas Dupré; Patrick Dion; Michael A Fox; Sandra Laurent; Steve Verreault; Joshua R Sanes; Jean-Pierre Bouchard; Guy A Rouleau
Journal:  Nat Genet       Date:  2006-12-10       Impact factor: 38.330

6.  Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.

Authors:  T Hamadouche; Y Poitelon; E Genin; M Chaouch; M Tazir; N Kassouri; S Nouioua; A Chaouch; I Boccaccio; T Benhassine; A De Sandre-Giovannoli; D Grid; N Lévy; V Delague
Journal:  Ann Hum Genet       Date:  2008-06-06       Impact factor: 1.670

7.  A mutation abolishing the ZMPSTE24 cleavage site in prelamin A causes a progeroid disorder.

Authors:  Yuexia Wang; Uta Lichter-Konecki; Kwame Anyane-Yeboa; Jessica E Shaw; Jonathan T Lu; Cecilia Östlund; Ji-Yeon Shin; Lorraine N Clark; Gregg G Gundersen; Peter L Nagy; Howard J Worman
Journal:  J Cell Sci       Date:  2016-03-31       Impact factor: 5.285

8.  Disrupting the LINC complex in smooth muscle cells reduces aortic disease in a mouse model of Hutchinson-Gilford progeria syndrome.

Authors:  Paul H Kim; Jennings Luu; Patrick Heizer; Yiping Tu; Thomas A Weston; Natalie Chen; Christopher Lim; Robert L Li; Po-Yu Lin; James C Y Dunn; Didier Hodzic; Stephen G Young; Loren G Fong
Journal:  Sci Transl Med       Date:  2018-09-26       Impact factor: 17.956

Review 9.  Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.

Authors:  M N Astejada; K Goto; A Nagano; S Ura; S Noguchi; I Nonaka; I Nishino; Y K Hayashi
Journal:  Acta Myol       Date:  2007-12

10.  Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein.

Authors:  C Ostlund; J Ellenberg; E Hallberg; J Lippincott-Schwartz; H J Worman
Journal:  J Cell Sci       Date:  1999-06       Impact factor: 5.285
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  2 in total

1.  Cytoskeletal and nucleoskeletal interacting protein networks play critical roles in cellular function and dysfunction.

Authors:  Muriel W Lambert
Journal:  Exp Biol Med (Maywood)       Date:  2019-10-26

Review 2.  Structural and Mechanical Aberrations of the Nuclear Lamina in Disease.

Authors:  Merel Stiekema; Marc A M J van Zandvoort; Frans C S Ramaekers; Jos L V Broers
Journal:  Cells       Date:  2020-08-11       Impact factor: 6.600
  2 in total

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