Literature DB >> 24485450

Progeria: a paradigm for translational medicine.

Leslie B Gordon1, Frank G Rothman2, Carlos López-Otín3, Tom Misteli4.   

Abstract

Rare diseases are powerful windows into biological processes and can serve as models for the development of therapeutic strategies. The progress made on the premature aging disorder Progeria is a shining example of the impact that studies of rare diseases can have.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID： 24485450      PMCID： PMC6318797          DOI： 10.1016/j.cell.2013.12.028

Source DB:  PubMed          Journal:  Cell        ISSN： 0092-8674            Impact factor:   41.582


  103 in total

1.  NF-κB activation impairs somatic cell reprogramming in ageing.

Authors:  Clara Soria-Valles; Fernando G Osorio; Ana Gutiérrez-Fernández; Alejandro De Los Angeles; Clara Bueno; Pablo Menéndez; José I Martín-Subero; George Q Daley; José M P Freije; Carlos López-Otín
Journal:  Nat Cell Biol       Date:  2015-07-27       Impact factor: 28.824

Review 2.  A humanized yeast system to analyze cleavage of prelamin A by ZMPSTE24.

Authors:  Eric D Spear; Rebecca F Alford; Tim D Babatz; Kaitlin M Wood; Otto W Mossberg; Kamsi Odinammadu; Khurts Shilagardi; Jeffrey J Gray; Susan Michaelis
Journal:  Methods       Date:  2019-01-06       Impact factor: 3.608

Review 3.  Hereditary Syndromes with Signs of Premature Aging.

Authors:  Davor Lessel; Christian Kubisch
Journal:  Dtsch Arztebl Int       Date:  2019-07-22       Impact factor: 5.594

4.  Interplay of primary sequence, position and secondary RNA structure determines alternative splicing of LMNA in a pre-mature aging syndrome.

Authors:  Asaf Shilo; Frances Anne Tosto; Jason W Rausch; Stuart F J Le Grice; Tom Misteli
Journal:  Nucleic Acids Res       Date:  2019-06-20       Impact factor: 16.971

5.  Loss of MT1-MMP causes cell senescence and nuclear defects which can be reversed by retinoic acid.

Authors:  Ana Gutiérrez-Fernández; Clara Soria-Valles; Fernando G Osorio; Jesús Gutiérrez-Abril; Cecilia Garabaya; Alina Aguirre; Antonio Fueyo; María Soledad Fernández-García; Xose S Puente; Carlos López-Otín
Journal:  EMBO J       Date:  2015-05-19       Impact factor: 11.598

Review 6.  Sulforaphane - role in aging and neurodegeneration.

Authors:  Roberto Santín-Márquez; Adriana Alarcón-Aguilar; Norma Edith López-Diazguerrero; Niki Chondrogianni; Mina Königsberg
Journal:  Geroscience       Date:  2019-04-02       Impact factor: 7.713

7.  Seeking a Cure for One of the Rarest Diseases: Progeria.

Authors:  Francis S Collins
Journal:  Circulation       Date:  2016-07-12       Impact factor: 29.690

8.  Progerin sequestration of PCNA promotes replication fork collapse and mislocalization of XPA in laminopathy-related progeroid syndromes.

Authors:  Benjamin A Hilton; Ji Liu; Brian M Cartwright; Yiyong Liu; Maya Breitman; Youjie Wang; Rowdy Jones; Hui Tang; Antonio Rusinol; Phillip R Musich; Yue Zou
Journal:  FASEB J       Date:  2017-05-17       Impact factor: 5.191

9.  Identification of novel RNA isoforms of LMNA.

Authors:  Emily DeBoy; Madaiah Puttaraju; Parthav Jailwala; Manjula Kasoji; Maggie Cam; Tom Misteli
Journal:  Nucleus       Date:  2017-08-31       Impact factor: 4.197

10.  Distal acroosteolysis, poikiloderma and joint stiffness: a novel laminopathy?

Authors:  Wafaa Sewairi; Abdulrahman Assiri; Nisha Patel; Amal Alhashem; Fowzan S Alkuraya
Journal:  Eur J Hum Genet       Date:  2016-01-06       Impact factor: 4.246
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