Literature DB >> 20447152

Lipodystrophy and muscular dystrophy caused by PTRF mutations.

W de Haan1.   

Abstract

Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy Hayashi et al. (2009) The Journal of Clinical Investigation 119: 2623-2633.

Entities:  

Year:  2010        PMID： 20447152     DOI： 10.1111/j.1399-0004.2009.01365_3.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Cavin-1 and Caveolin-1 are both required to support cell proliferation, migration and anchorage-independent cell growth in rhabdomyosarcoma.

Authors:  Fiorella Faggi; Nicola Chiarelli; Marina Colombi; Stefania Mitola; Roberto Ronca; Luca Madaro; Marina Bouche; Pietro L Poliani; Marika Vezzoli; Francesca Longhena; Eugenio Monti; Barbara Salani; Davide Maggi; Charles Keller; Alessandro Fanzani
Journal:  Lab Invest       Date:  2015-03-30       Impact factor: 5.662

2.  Muscular dystrophy in PTFR/cavin-1 null mice.

Authors:  Shi-Ying Ding; Libin Liu; Paul F Pilch
Journal:  JCI Insight       Date:  2017-03-09

3.  Biotinylation by antibody recognition-a method for proximity labeling.

Authors:  Daniel Z Bar; Kathleen Atkatsh; Urraca Tavarez; Michael R Erdos; Yosef Gruenbaum; Francis S Collins
Journal:  Nat Methods       Date:  2017-12-18       Impact factor: 47.990
  3 in total

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