Literature DB >> 15668447

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

B G M van Engelen1, A Muchir, C J Hutchison, A J van der Kooi, G Bonne, M Lammens.   

Abstract

The authors report the clinical and histologic phenotypes of a LGMD1B family including a newborn child with a homozygous LMNA nonsense mutation (Y259X). At the heterozygous state the nonsense mutation leads to a classic LGMD1B phenotype; the homozygous LMNA nonsense mutation causes a lethal phenotype.

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Year:  2005        PMID： 15668447     DOI： 10.1212/01.WNL.0000149763.15180.00

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  26 in total

1.  Altering lamina assembly reveals lamina-dependent and -independent functions for A-type lamins.

Authors:  Monika Zwerger; Heidi Roschitzki-Voser; Reto Zbinden; Celine Denais; Harald Herrmann; Jan Lammerding; Markus G Grütter; Ohad Medalia
Journal:  J Cell Sci       Date:  2015-08-14       Impact factor: 5.285

Review 2.  Laminopathies: multiple disorders arising from defects in nuclear architecture.

Authors:  Veena K Parnaik; Kaliyaperumal Manju
Journal:  J Biosci       Date:  2006-09       Impact factor: 1.826

3.  Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.

Authors:  Antoine Muchir; Catherine Massart; Baziel G van Engelen; Martin Lammens; Gisèle Bonne; Howard J Worman
Journal:  Biochem Biophys Res Commun       Date:  2006-11-03       Impact factor: 3.575

Review 4.  Mouse models of the laminopathies.

Authors:  Colin L Stewart; Serguei Kozlov; Loren G Fong; Stephen G Young
Journal:  Exp Cell Res       Date:  2007-03-31       Impact factor: 3.905

Review 5.  Using zebrafish models to explore genetic and epigenetic impacts on evolutionary developmental origins of aging.

Authors:  Shuji Kishi
Journal:  Transl Res       Date:  2013-10-25       Impact factor: 7.012

6.  New Lmna knock-in mice provide a molecular mechanism for the 'segmental aging' in Hutchinson-Gilford progeria syndrome.

Authors:  Hea-Jin Jung; Yiping Tu; Shao H Yang; Angelica Tatar; Chika Nobumori; Daniel Wu; Stephen G Young; Loren G Fong
Journal:  Hum Mol Genet       Date:  2013-11-07       Impact factor: 6.150

Review 7.  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

Review 8.  Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin.

Authors:  Thomas Dechat; Katrin Pfleghaar; Kaushik Sengupta; Takeshi Shimi; Dale K Shumaker; Liliana Solimando; Robert D Goldman
Journal:  Genes Dev       Date:  2008-04-01       Impact factor: 11.361

Review 9.  Diseases of the Nucleoskeleton.

Authors:  James M Holaska
Journal:  Compr Physiol       Date:  2016-09-15       Impact factor: 9.090

Review 10.  When lamins go bad: nuclear structure and disease.

Authors:  Katherine H Schreiber; Brian K Kennedy
Journal:  Cell       Date:  2013-03-14       Impact factor: 41.582
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