Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Pablo Villavicencio-Lorini"'
Autor:
Thorsten Pfirrmann, Pablo Villavicencio-Lorini, Abinash K Subudhi, Ruth Menssen, Dieter H Wolf, Thomas Hollemann
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0120342 (2015)
In Saccharomyces cerevisiae the Gid-complex functions as an ubiquitin-ligase complex that regulates the metabolic switch between glycolysis and gluconeogenesis. In higher organisms six conserved Gid proteins form the CTLH protein-complex with unknown
Externí odkaz:
https://doaj.org/article/32f1bce80ac44ac7a9bd8d19e17b5f2c
Autor:
Andrea Magdalena Waibel, Johanna Mirjam Stoye, Pablo Villavicencio-Lorini, Katrin Hoffmann, Carolin Obermaier, Saskia Biskup, Claudia Grünauer-Kloevekorn
Publikováno v:
Klinische Monatsblätter für Augenheilkunde. 239:1473-1477
ZusammenfassungDie X-chromosomal rezessive Retinoschisis (XLRS) ist eine seltene vitreoretinale Dystrophie, die durch molekulargenetische Veränderungen im RS1-Gen ausgelöst wird. Sie manifestiert sich meist in jungem Lebensalter mit einer symmetris
Autor:
Florian Job, Carolin Mai, Pablo Villavicencio-Lorini, Juliane Herfurth, Herbert Neuhaus, Katrin Hoffmann, Thorsten Pfirrmann, Thomas Hollemann
Ubiquitination and deubiquitylation regulate essential cellular processes and involve hundreds of sequentially acting enzymes, many of which are barely understood. OTUD3 is an evolutionarily highly conserved deubiquitinase involved in many aspects of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7344d3e5fd02132cc6326ddec7232a9
Autor:
Andrea Magdalena, Waibel, Johanna Mirjam, Stoye, Pablo, Villavicencio-Lorini, Katrin, Hoffmann, Carolin, Obermaier, Saskia, Biskup, Claudia, Grünauer-Kloevekorn
Publikováno v:
Klinische Monatsblatter fur Augenheilkunde. 239(12)
X-linked retinoschisis (XLRS) is a rare vitreoretinal dystrophy caused by molecular genetic changes in theDie X-chromosomal rezessive Retinoschisis (XLRS) ist eine seltene vitreoretinale Dystrophie, die durch molekulargenetische Veränderungen im
Autor:
Friederike Hantel, Huaize Liu, Lisa Fechtner, Herbert Neuhaus, Jie Ding, Danilo Arlt, Peter Walentek, Pablo Villavicencio-Lorini, Christoph Gerhardt, Thomas Hollemann, Thorsten Pfirrmann
Publikováno v:
Journal of cell science. 135(9)
Autor:
Friederike Hantel, Huaize Liu, Lisa Fechtner, Herbert Neuhaus, Jie Ding, Danilo Arlt, Peter Walentek, Pablo Villavicencio-Lorini, Christoph Gerhardt, Thomas Hollemann, Thorsten Pfirrmann
Publikováno v:
Journal of cell science. 135(9)
Cilia are evolutionarily conserved organelles that orchestrate a variety of signal transduction pathways, such as sonic hedgehog (SHH) signaling, during embryonic development. Our recent studies have shown that loss of GID ubiquitin ligase function r
Autor:
Pablo Villavicencio-Lorini, Lars-Oliver Klotz, Nadine Urban, Peter Walentek, Alessandro Ori, Thomas Hollemann, Karl Köhnlein, Huaize Liu, Thorsten Pfirrmann, Jie Ding
Publikováno v:
Autophagy
article-version (VoR) Version of Record
article-version (VoR) Version of Record
The AMP-activated protein kinase (AMPK) regulates cellular energy homeostasis by sensing the metabolic status of the cell. AMPK is regulated by phosphorylation and dephosphorylation as a result of changing AMP/ATP levels and by removal of inhibitory
Autor:
Sabine Lüttgen, Christina Evers, Hatip Aydin, Anne-Karin Kahlert, Kerstin Kutsche, Stephan Unkelbach, Stephanie Spranger, María Juliana Ballesta-Martínez, Angela Ovens-Raeder, Bernhard Zabel, Florian von Deimling, Alena Puchmajerová, Andreas Hahn, Vanesa López-González, Robin Satanovskij, Karim Kouz, Christina Lissewski, Sheela Nampoothiri, Maja Hempel, Angelika Riess, Diana Mitter, Pablo Villavicencio-Lorini, Adrian Lieb, Ulrike Issa, Martin Zenker, Heide Seidel
Publikováno v:
Genetics in Medicine. 18:1226-1234
Purpose:Noonan syndrome (NS) is an autosomal-dominant disorder characterized by craniofacial dysmorphism, growth retardation, cardiac abnormalities, and learning difficulties. It belongs to the RASopathies, which are caused by germ-line mutations in
Autor:
Wolfgang C, Marsch, Shoko, Komatsuzaki, Astrid, Mueller, Monika, Hagemann, Danica, Lange, Larissa, Maemecke, Pablo, Villavicencio-Lorini, Katrin, Hoffmann
Publikováno v:
European journal of dermatology : EJD. 29(3)
Livedoid vasculopathy (LV) has been shown to be associated with hypercoagulability. However, relevant genetic and exogenous thrombophilic factors are not fully determined.To evaluate the frequency of hyperhomocysteinaemia (HHCE) and genotypes of hype
Autor:
Carolina Araujo Moreno, Débora Romeo Bertola, Bernd Wollnik, Cecilia Giunta, Chong Ae Kim, Peter Nürnberg, Eugênia Ribeiro Valadares, Katharina Keupp, Marianne Rohrbach, Janine Altmüller, Tulio Canella Bezerra Carniero, Yun Li, Oliver Semler, Christian Netzer, Bernhard Zabel, Filippo Beleggia, Guilherme L. Yamamoto, Marco Janner, Arsonval Lamounier, Matthew L. Warman, Gökhan Yigit, Nadine Reintjes, Lutz Garbes, Sofia Maia, Ekkehart Lausch, Shahida Moosa, Denise P. Cavalcanti, Sérgio B. Sousa, Rachel Sayuri Honjo, Jorge M. Saraiva, Pablo Villavicencio Lorini, Hamilton Cabral de Menezes, Ana Beleza-Meireles
Osteogenesis imperfecta (OI) comprises a genetically heterogeneous group of skeletal fragility diseases. Here, we report on five independent families with a progressively deforming type of OI, in whom we identified four homozygous truncation or frame
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::678c2ab1d6c00d2ce84f9e443c08aea4