Literature DB >> 15937076

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

S Shackleton, D T Smallwood, P Clayton, L C Wilson, A K Agarwal, A Garg, R C Trembath.   

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Year:  2005        PMID： 15937076      PMCID： PMC1736080          DOI： 10.1136/jmg.2004.029751

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  36 in total

Review 1.  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

Review 2.  Progeria: a laminopathy of special interest.

Authors:  Irena Hausmanowa-Petrusewicz
Journal:  Curr Neurol Neurosci Rep       Date:  2007-11       Impact factor: 5.081

3.  HIV protease inhibitors block the zinc metalloproteinase ZMPSTE24 and lead to an accumulation of prelamin A in cells.

Authors:  Catherine Coffinier; Sarah E Hudon; Emily A Farber; Sandy Y Chang; Christine A Hrycyna; Stephen G Young; Loren G Fong
Journal:  Proc Natl Acad Sci U S A       Date:  2007-07-25       Impact factor: 11.205

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.  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 6.  Looking for disease being a model of human aging.

Authors:  I Hausmanowa-Petrusewicz; A Madej-Pilarczyk
Journal:  Acta Myol       Date:  2007-10

Review 7.  Diseases of the nuclear envelope.

Authors:  Howard J Worman; Cecilia Ostlund; Yuexia Wang
Journal:  Cold Spring Harb Perspect Biol       Date:  2010-02       Impact factor: 10.005

Review 8.  Lamins, laminopathies and disease mechanisms: possible role for proteasomal degradation of key regulatory proteins.

Authors:  Veena K Parnaik; Pankaj Chaturvedi; B Muralikrishna
Journal:  J Biosci       Date:  2011-08       Impact factor: 1.826

9.  Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Authors:  Rabah Ben Yaou; Claire Navarro; Susana Quijano-Roy; Anne T Bertrand; Catherine Massart; Annachiara De Sandre-Giovannoli; Juan Cadiñanos; Kamel Mamchaoui; Gillian Butler-Browne; Brigitte Estournet; Pascale Richard; Annie Barois; Nicolas Lévy; Gisèle Bonne
Journal:  Eur J Hum Genet       Date:  2011-01-26       Impact factor: 4.246

10.  Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.

Authors:  Farhana Haque; Daniela Mazzeo; Jennifer T Patel; Dawn T Smallwood; Juliet A Ellis; Catherine M Shanahan; Sue Shackleton
Journal:  J Biol Chem       Date:  2009-11-21       Impact factor: 5.157
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