Search Results - "Böddrich, Annett"

The redox environment triggers conformational changes and aggregation of hIAPP in Type II Diabetes by Rodriguez Camargo, Diana C., Tripsianes, Konstantinos, Buday, Katalin, Franko, Andras, Göbl, Christoph, Hartlmüller, Christoph, Sarkar, Riddhiman, Aichler, Michaela, Mettenleiter, Gabriele, Schulz, Michael, Böddrich, Annett, Erck, Christian, Martens, Henrik, Walch, Axel Karl, Madl, Tobias, Wanker, Erich E., Conrad, Marcus, de Angelis, Martin Hrabě, Reif, Bernd

“…Type II diabetes (T2D) is characterized by diminished insulin production and resistance of cells to insulin. Among others, endoplasmic reticulum (ER) stress is…”
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Mutant huntingtin impairs neurodevelopment in human brain organoids through CHCHD2-mediated neurometabolic failure by Lisowski, Pawel, Lickfett, Selene, Rybak-Wolf, Agnieszka, Menacho, Carmen, Le, Stephanie, Pentimalli, Tancredi Massimo, Notopoulou, Sofia, Dykstra, Werner, Oehler, Daniel, López-Calcerrada, Sandra, Mlody, Barbara, Otto, Maximilian, Wu, Haijia, Richter, Yasmin, Roth, Philipp, Anand, Ruchika, Kulka, Linda A. M., Meierhofer, David, Glazar, Petar, Legnini, Ivano, Telugu, Narasimha Swamy, Hahn, Tobias, Neuendorf, Nancy, Miller, Duncan C., Böddrich, Annett, Polzin, Amin, Mayatepek, Ertan, Diecke, Sebastian, Olzscha, Heidi, Kirstein, Janine, Ugalde, Cristina, Petrakis, Spyros, Cambridge, Sidney, Rajewsky, Nikolaus, Kühn, Ralf, Wanker, Erich E., Priller, Josef, Metzger, Jakob J., Prigione, Alessandro

“…Expansion of the glutamine tract (poly-Q) in the protein huntingtin (HTT) causes the neurodegenerative disorder Huntington’s disease (HD). Emerging evidence…”
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Epigallocatechin gallate (EGCG) reduces the intensity of pancreatic amyloid fibrils in human islet amyloid polypeptide (hIAPP) transgenic mice by Franko, Andras, Rodriguez Camargo, Diana C., Böddrich, Annett, Garg, Divita, Rodriguez Camargo, Andres, Rathkolb, Birgit, Janik, Dirk, Aichler, Michaela, Feuchtinger, Annette, Neff, Frauke, Fuchs, Helmut, Wanker, Erich E., Reif, Bernd, Häring, Hans-Ulrich, Peter, Andreas, Hrabě de Angelis, Martin

“…The formation of amyloid fibrils by human islet amyloid polypeptide protein (hIAPP) has been implicated in pancreas dysfunction and diabetes. However,…”
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A molecular pathogenesis for transcription factor associated poly-alanine tract expansions by Albrecht, Andrea N., Kornak, Uwe, Böddrich, Annett, Süring, Kathrin, Robinson, Peter N., Stiege, Asita C., Lurz, Rudi, Stricker, Sigmar, Wanker, Erich E., Mundlos, Stefan

“…Poly-alanine (Ala) tract expansions in transcription factors have been shown to be associated with human birth defects such as malformations of the brain, the…”
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Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets by Francis, F, Strom, T M, Hennig, S, Böddrich, A, Lorenz, B, Brandau, O, Mohnike, K L, Cagnoli, M, Steffens, C, Klages, S, Borzym, K, Pohl, T, Oudet, C, Econs, M J, Rowe, P S, Reinhardt, R, Meitinger, T, Lehrach, H

“…X-linked dominant hypophosphatemic rickets (HYP) is the most common form of hereditary rickets. Recently we have cloned the PEX gene and shown it to be mutated…”
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Mixing Aβ(1-40) and Aβ(1-42) peptides generates unique amyloid fibrils by Cerofolini, Linda, Ravera, Enrico, Bologna, Sara, Wiglenda, Thomas, Böddrich, Annett, Purfürst, Bettina, Benilova, Iryna, Korsak, Magdalena, Gallo, Gianluca, Rizzo, Domenico, Gonnelli, Leonardo, Fragai, Marco, De Strooper, Bart, Wanker, Erich E, Luchinat, Claudio

“…Recent structural studies show distinct morphologies for the fibrils of Aβ(1-42) and Aβ(1-40), which are believed not to co-fibrillize. We describe here a…”
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Interleukin‐12/23 deficiency differentially affects pathology in male and female Alzheimer's disease‐like mice by Eede, Pascale, Obst, Juliane, Benke, Eileen, Yvon‐Durocher, Genevieve, Richard, Bernhard C, Gimber, Niclas, Schmoranzer, Jan, Böddrich, Annett, Wanker, Erich E, Prokop, Stefan, Heppner, Frank L

“…Pathological aggregation of amyloid‐β (Aβ) is a main hallmark of Alzheimer's disease (AD). Recent genetic association studies have linked innate immune system…”
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Pathological consequences of VCP mutations on human striated muscle by Hübbers, Christian U., Clemen, Christoph S., Kesper, Kristina, Böddrich, Annett, Hofmann, Andreas, Kämäräinen, Outi, Tolksdorf, Karen, Stumpf, Maria, Reichelt, Julia, Roth, Udo, Krause, Sabine, Watts, Giles, Kimonis, Virginia, Wattjes, Mike P., Reimann, Jens, Thal, Dietmar R., Biermann, Katharina, Evert, Bernd O., Lochmüller, Hanns, Wanker, Erich E., Schoser, Benedikt G. H., Noegel, Angelika A., Schröder, Rolf

“…Mutations in the valosin-containing protein (VCP, p97) gene on chromosome 9p13–p12 cause a late-onset form of autosomal dominant inclusion body myopathy…”
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Identification of VCP/p97, Carboxyl Terminus of Hsp70-interacting Protein (CHIP), and Amphiphysin II Interaction Partners Using Membrane-based Human Proteome Arrays by Grelle, Gerlinde, Kostka, Susanne, Otto, Albrecht, Kersten, Birgit, Genser, Klaus F, Müller, Eva-Christina, Wälter, Stephanie, Böddrich, Annett, Stelzl, Ulrich, Hänig, Christian, Volkmer-Engert, Rudolf, Landgraf, Christiane, Alberti, Simon, Höhfeld, Jörg, Strödicke, Martin, Wanker, Erich E

“…Proteins mediate their biological function through interactions with other proteins. Therefore, the systematic identification and characterization of…”
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Pex Gene Deletions in Gy and Hyp Mice Provide Mouse Models for X-Linked Hypophosphatemia by Strom, Tim M., Francis, Fiona, Lorenz, Bettina, Böddrich, Annett, Lehrach, Hans, Econs, Michael J., Meitinger, Thomas

“…X-linked hypophosphatemic rickets in humans is caused by mutations in the PEX gene which codes for a protein homologous to neutral endopeptidases. Hyp and Gy…”
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Spermine Deficiency in Gy Mice Caused by Deletion of the Spermine Synthase Gene by Lorenz, Bettina, Francis, Fiona, Gempel, Klaus, Böddrich, Annett, Josten, Markus, Schmahl, Wolfgang, Schmidt, Jörg, Lehrach, Hans, Meitinger, Thomas, Strom, Tim M.

“…Two mouse mutations gyro (Gy) and hypophosphatemia (Hyp) are mouse models for X-linked hypophosphatemic rickets and have been shown to be deleted for the 5′…”
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Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene by Robinson, P N, Böddrich, A, Peters, H, Tinschert, S, Buske, A, Kaufmann, D, Nürnberg, P

“…We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel…”
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New evidence for a mutation hotspot in exon 37 of the NF1 gene by Böddrich, Annett, Robinson, Peter N., Schülke, Markus, Buske, Annegret, Tinschert, Sigrid, Nürnberg, Peter

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Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 by Horn, D, Robinson, P N, Böddrich, A, Buske, A, Tinschert, S, Nürnberg, P

“…We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations on exons 5 and 8 of the NF1 gene using temperature gradient gel…”
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Reduced Neurofibromin Content but Normal Gap Activity in a Patient with Neurofibromatosis Type 1 Caused by a Five-Base-Pair Duplication in Exon 12B of the NF1 Gene by Boddrich, A., Griesser, J., Horn, D., Kaufmann, D., Krone, W., Nurnberg, P.

“…We screened a total of 87 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 11, 12a, and 12b of the NF1 gene using temperature…”
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The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage elements by Albrecht, Andrea N., Schwabe, Georg C., Stricker, Sigmar, Böddrich, Annett, Wanker, Erich E., Mundlos, Stefan

“…We have investigated the recessive mouse mutant synpolydactyly homolog (spdh) as a model for human synpolydactyly (SPD). As in human SPD, the spdh phenotype…”
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