Literature DB >> 22064469

Progeria Research Day at Brunel University.

Joanna M Bridger1, Christopher H Eskiw, Evgeny M Makarov, David Tree, Ian R Kill.   

Abstract

Hutchinson-Gilford Progeria Syndrome (HGPS) is a severe premature aging syndrome that affects children. These children display characteristics associated with normal aging and die young usually from cardiovascular problems or stroke. Classical HGPS is caused by mutations in the gene encoding the nuclear structural protein lamin A. This mutation leads to a novel version of lamin A that retains a farnesyl group from its processing. This protein is called Progerin and is toxic to cellular function. Pre-lamin A is an immature version of lamin A and also has a farnesylation modification, which is cleaved in the maturation process to create lamin A.

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Year:  2011        PMID: 22064469      PMCID: PMC3324340          DOI: 10.4161/nucl.2.6.17605

Source DB:  PubMed          Journal:  Nucleus        ISSN: 1949-1034            Impact factor:   4.197


  28 in total

1.  Lamin a truncation in Hutchinson-Gilford progeria.

Authors:  Annachiara De Sandre-Giovannoli; Rafaëlle Bernard; Pierre Cau; Claire Navarro; Jeanne Amiel; Irène Boccaccio; Stanislas Lyonnet; Colin L Stewart; Arnold Munnich; Martine Le Merrer; Nicolas Lévy
Journal:  Science       Date:  2003-04-17       Impact factor: 47.728

2.  Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.

Authors:  Michael W Glynn; Thomas W Glover
Journal:  Hum Mol Genet       Date:  2005-08-26       Impact factor: 6.150

Review 3.  Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors.

Authors:  Antonio E Rusiñol; Michael S Sinensky
Journal:  J Cell Sci       Date:  2006-08-15       Impact factor: 5.285

4.  Interchromosomal associations between alternatively expressed loci.

Authors:  Charalampos G Spilianakis; Maria D Lalioti; Terrence Town; Gap Ryol Lee; Richard A Flavell
Journal:  Nature       Date:  2005-05-08       Impact factor: 49.962

5.  Long-range chromatin regulatory interactions in vivo.

Authors:  David Carter; Lyubomira Chakalova; Cameron S Osborne; Yan-feng Dai; Peter Fraser
Journal:  Nat Genet       Date:  2002-11-11       Impact factor: 38.330

6.  Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome.

Authors:  Maria Eriksson; W Ted Brown; Leslie B Gordon; Michael W Glynn; Joel Singer; Laura Scott; Michael R Erdos; Christiane M Robbins; Tracy Y Moses; Peter Berglund; Amalia Dutra; Evgenia Pak; Sandra Durkin; Antonei B Csoka; Michael Boehnke; Thomas W Glover; Francis S Collins
Journal:  Nature       Date:  2003-04-25       Impact factor: 49.962

7.  A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria.

Authors:  Loren G Fong; David Frost; Margarita Meta; Xin Qiao; Shao H Yang; Catherine Coffinier; Stephen G Young
Journal:  Science       Date:  2006-02-16       Impact factor: 47.728

8.  LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

Authors:  Henian Cao; Robert A Hegele
Journal:  J Hum Genet       Date:  2003-04-03       Impact factor: 3.172

9.  Primary laminopathy fibroblasts display altered genome organization and apoptosis.

Authors:  Karen J Meaburn; Erik Cabuy; Gisele Bonne; Nicolas Levy; Glenn E Morris; Giuseppe Novelli; Ian R Kill; Joanna M Bridger
Journal:  Aging Cell       Date:  2007-02-05       Impact factor: 9.304

10.  Farnesyltransferase inhibitor treatment restores chromosome territory positions and active chromosome dynamics in Hutchinson-Gilford progeria syndrome cells.

Authors:  Ishita S Mehta; Christopher H Eskiw; Halime D Arican; Ian R Kill; Joanna M Bridger
Journal:  Genome Biol       Date:  2011-08-12       Impact factor: 13.583

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