English
 
User Manual Privacy Policy Disclaimer Contact us
  Advanced SearchBrowse

Item

ITEM ACTIONSEXPORT
  Mutations in PYCR1 cause cutis laxa with progeroid features

Reversade, B., Escande-Beillard, N., Dimopoulou, A., Fischer, B., Chng, S. C., Li, Y., et al. (2009). Mutations in PYCR1 cause cutis laxa with progeroid features. Nature Genetics, 41, 1016-1021. doi:10.1038/ng.413.

Item is

Basic

show hide
Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D1E-8 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7D1F-6
Genre: Journal Article
Alternative Title : Nature Genet

Files

show Files

Locators

show

Creators

show
hide
 Creators:
Reversade, Bruno, Author
Escande-Beillard, Nathalie, Author
Dimopoulou, Aikaterini, Author
Fischer, Björn, Author
Chng, Serene C., Author
Li, Yun, Author
Shboul, Mohammad, Author
Tham, Puay-Yoke, Author
Kayserili, Hülya, Author
Al-Gazali, Lihadh, Author
Shahwan, Monzer, Author
Brancati, Francesco, Author
Lee, Hane, Author
O'Connor, Brian D., Author
Schmidt-von Kegler, Mareen1, Author
Merriman, Barry, Author
Nelson, Stanley F., Author
Masri, Amira, Author
Alkazaleh, Fawaz, Author
Guerra, Deanna, Author
Ferrari, Paola, AuthorNanda, Arti, AuthorRajab, Anna, AuthorMarkie, David, AuthorGray, Mary, AuthorNelson, John, AuthorGrix, Arthur, AuthorSommer, Annemarie, AuthorSavarirayan, Ravi, AuthorJanecke, Andreas R., AuthorSteichen, Elisabeth, AuthorSillence, David, AuthorHaußer, Ingrid, AuthorBudde, Birgit, AuthorNürnberg, Gudrun, AuthorNürnberg, Peter, AuthorSeemann, Petra2, Author              Kunkel, Désirée, AuthorZambruno, Giovanna, AuthorDallapiccola, Bruno, AuthorSchuelke, Markus, AuthorRobertson, Stephen, AuthorHamamy, Hanan, AuthorWollnik, Bernd, AuthorVan Maldergem, Lionel, AuthorMundlos, Stefan2, Author              Kornak, Uwe2, Author               more..
Affiliations:
1Max Planck Society, ou_persistent13              
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557              

Content

show
hide
Free keywords: -
 Abstract: Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation1, 2, 3. Homozygosity mapping in several kindreds with ARCL identified a candidate region on chromosome 17q25. By high-throughput sequencing of the entire candidate region, we detected disease-causing mutations in the gene PYCR1. We found that the gene product, an enzyme involved in proline metabolism, localizes to mitochondria. Altered mitochondrial morphology, membrane potential and increased apoptosis rate upon oxidative stress were evident in fibroblasts from affected individuals. Knockdown of the orthologous genes in Xenopus and zebrafish led to epidermal hypoplasia and blistering that was accompanied by a massive increase of apoptosis. Our findings link mutations in PYCR1 to altered mitochondrial function and progeroid changes in connective tissues.

Details

show
hide
Language(s): eng - English
 Dates: 2009-09
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Method: -
 Degree: -

Event

show

Legal Case

show

Project information

show

Source 1

show
hide
Title: Nature Genetics
  Alternative Title : Nature Genet
Source Genre: Journal
 Creator(s):
Affiliations:
Publ. Info: -
Pages: - Volume / Issue: 41 Sequence Number: - Start / End Page: 1016 - 1021 Identifier: ISSN: 1061-4036