Progeria: a paradigm for translational medicine

Leslie B Gordon; Frank G Rothman; Carlos López-Otín; Tom Misteli

doi:10.1016/j.cell.2013.12.028

Progeria: a paradigm for translational medicine

Cell. 2014 Jan 30;156(3):400-7. doi: 10.1016/j.cell.2013.12.028.

Authors

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

Affiliations

¹ Department of Anesthesia, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Department of Pediatrics, Hasbro Children's Hospital and Warren Alpert Medical School of Brown University, Providence, RI 02912, USA. Electronic address: leslie_gordon@brown.edu.
² Division of Biology and Medicine, Brown University, Providence, RI 02912, USA.
³ Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, 33006 Oviedo, Spain.
⁴ National Cancer Institute, NIH, Bethesda, MD 20892, USA. Electronic address: mistelit@mail.nih.gov.

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.

MeSH terms

Aging / genetics
Aging / pathology
Child
Farnesyltranstransferase / antagonists & inhibitors
Humans
Lamin Type A
Nuclear Proteins / metabolism
Progeria / drug therapy*
Progeria / genetics
Progeria / pathology
Progeria / physiopathology*
Protein Precursors / metabolism
Translational Research, Biomedical*

Substances

Lamin Type A
Nuclear Proteins
Protein Precursors
prelamin A
Farnesyltranstransferase

Abstract

MeSH terms

Substances

Grants and funding