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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in PYCR1 cause cutis laxa with progeroid features
Nature Genetics, Volume 41, No. 9, Year 2009
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Description
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 retardation. 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. © 2009 Nature America, Inc. All rights reserved.
Authors & Co-Authors
Reversade, Bruno
Singapore, Singapore City
A-star, Institute of Medical Biology
Escande-Beillard, Nathalie
Singapore, Singapore City
A-star, Institute of Medical Biology
Dimopoulou, Aikaterini
Germany, Berlin
Charité – Universitätsmedizin Berlin
Fischer, Björn
Germany, Berlin
Charité – Universitätsmedizin Berlin
Chng, Serene C.
Singapore, Singapore City
A-star, Institute of Medical Biology
Li, Yun
Germany, Koln
Universität zu Köln
Al-Shboul, Mohammad
Singapore, Singapore City
A-star, Institute of Medical Biology
Tham, Puay Yoke
Singapore, Singapore City
A-star, Institute of Medical Biology
Kayserili, Hülya U.
Turkey, Istanbul
İstanbul Tıp Fakültesi
Al-Gazali, Lihadh I.
United Arab Emirates, Al Ain
United Arab Emirates University
Shahwan, Moyad Jamal Saeed Al
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Brancati, Francesco
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Italy, Chieti
University of G. D'annunzio Chieti and Pescara
Lee, Hane
United States, Los Angeles
David Geffen School of Medicine at Ucla
O'Connor, Brian D.
United States, Los Angeles
David Geffen School of Medicine at Ucla
Kegler, Mareen Schmidt Von
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Merriman, Barry
United States, Los Angeles
David Geffen School of Medicine at Ucla
Nelson, Stanley F.
United States, Los Angeles
David Geffen School of Medicine at Ucla
Masri, Amira
Jordan, Amman
School of Medicine
Alkazaleh, Fawaz
Jordan, Amman
School of Medicine
Guerra, Deanna
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Ferrari, Paola
Italy, Modena
Università Degli Studi Di Modena e Reggio Emilia
Nanda, Arti
Kuwait
Al-sabah Hospital
Rajab, Anna A.
Oman, Muscat
Ministry of Health Oman
Markie, David M.
New Zealand, Dunedin
University of Otago
Gray, Mary
New Zealand, Dunedin
University of Otago
Nelson, John
New Zealand, Perth
Memorial Hospital for Women
Grix, Art
United States
Permanente Medical Group
Sommer, Annemarie
United States, Columbus
The Ohio State University College of Medicine
Savarirayan, Ravi
Australia, Melbourne
University of Melbourne
Janecke, Andreas Robert
Austria, Innsbruck
Medizinische Universitat Innsbruck
Steichen-Gersdorf, Elisabeth
Austria, Innsbruck
Universität Innsbruck
Sillence, David Owen
Australia, Sydney
The Children's Hospital at Westmead
Hausser, Ingrid
Germany, Heidelberg
Universitätsklinikum Heidelberg
Budde, Birgit Susanne
Germany, Koln
Medizinische Fakultät
Nürnberg, Gudrun
Germany, Koln
Medizinische Fakultät
Nürnberg, Peter
Germany, Koln
Medizinische Fakultät
Seemann, Petra
Germany, Berlin
Max Planck Institute for Molecular Genetics
Germany, Berlin
Charité – Universitätsmedizin Berlin
Kunkel, Désirée
Germany, Berlin
Charité – Universitätsmedizin Berlin
Zambruno, Giovanna
Italy, Rome
Irccs Istituto Dermopatico Dell'immacolata
Dallapiccola, Bruno
Italy, San Giovanni Rotondo
Irccs Casa Sollievo Della Sofferenza
Schuelke, Markus
Germany, Berlin
Charité – Universitätsmedizin Berlin
Robertson, Stephen P.
New Zealand, Dunedin
University of Otago
Hamamy, Hanan Ali
Jordan, Amman
National Center for Diabetes, Endocrinology and Genetics Jordan
Wollnik, Bernd
Germany, Koln
Universität zu Köln
Van-Maldergem, Lionel
France, Bagnolet
Saft
Mundlos, Stefan
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Kornak, Uwe
Germany, Berlin
Charité – Universitätsmedizin Berlin
Germany, Berlin
Max Planck Institute for Molecular Genetics
Statistics
Citations: 230
Authors: 47
Affiliations: 26
Identifiers
Doi:
10.1038/ng.413
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Cancer
Genetics And Genomics