Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs4)
Umathum, Vincent, Weber, Axel, Amsel, Daniel, Alexopoulos, Ioannis, Becker, Christina, Roth, Angela, Günther, Andreas, Selignow, Carmen, Ritschel, Nadja, Nishimura, Anna, Schaiter, Alexander, Németh, Attila, Ven, Peter F. M., Acker, Till, Schänzer, Anne
Published in Brain pathology (Zurich, Switzerland) (01.01.2024)
Published in Brain pathology (Zurich, Switzerland) (01.01.2024)
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Molecular basis of F-actin regulation and sarcomere assembly via myotilin
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Published in PLoS biology (12.04.2021)
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Overexpression of human BAG3P209L in mice causes restrictive cardiomyopathy
Kimura, Kenichi, Ooms, Astrid, Graf-Riesen, Kathrin, Kuppusamy, Maithreyan, Unger, Andreas, Schuld, Julia, Daerr, Jan, Lother, Achim, Geisen, Caroline, Hein, Lutz, Takahashi, Satoru, Li, Guang, Röll, Wilhelm, Bloch, Wilhelm, van der Ven, Peter F. M., Linke, Wolfgang A., Wu, Sean M., Huesgen, Pitter F., Höhfeld, Jörg, Fürst, Dieter O., Fleischmann, Bernd K., Hesse, Michael
Published in Nature communications (11.06.2021)
Published in Nature communications (11.06.2021)
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Molecular composition of skeletal muscle in infants and adults: a comparative proteomic and transcriptomic study
Schaiter, Alexander, Hentschel, Andreas, Kleefeld, Felix, Schuld, Julia, Umathum, Vincent, Procida-Kowalski, Tara, Nelke, Christopher, Roth, Angela, Hahn, Andreas, Krämer, Heidrun H., Ruck, Tobias, Horvath, Rita, van der Ven, Peter F. M., Bartkuhn, Marek, Roos, Andreas, Schänzer, Anne
Published in Scientific reports (03.10.2024)
Published in Scientific reports (03.10.2024)
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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects
Straussberg, Rachel, Schottmann, Gudrun, Sadeh, Menachem, Gill, Esther, Seifert, Franziska, Halevy, Ayelet, Qassem, Kaiyal, Rendu, John, van der Ven, Peter F. M., Stenzel, Werner, Schuelke, Markus
Published in Acta neuropathologica (01.09.2016)
Published in Acta neuropathologica (01.09.2016)
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Target formation in muscle fibres indicates reinnervation – A proteomic study in muscle samples from peripheral neuropathies
Krause, Karsten, Eggers, Britta, Uszkoreit, Julian, Eulitz, Stefan, Rehmann, Robert, Güttsches, Anne K., Schreiner, Anja, Ven, Peter F. M., Fürst, Dieter O., Marcus, Katrin, Vorgerd, Matthias, Kley, Rudolf A.
Published in Neuropathology and applied neurobiology (01.02.2023)
Published in Neuropathology and applied neurobiology (01.02.2023)
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Synaptopodin-2 Isoforms Have Specific Binding Partners and Display Distinct, Muscle Cell Type-Specific Expression Patterns
Lohanadan, Keerthika, Assent, Marvin, Linnemann, Anja, Schuld, Julia, Heukamp, Lukas C, Krause, Karsten, Vorgerd, Matthias, Reimann, Jens, Schänzer, Anne, Kirfel, Gregor, Fürst, Dieter O, Van der Ven, Peter F M
Published in Cells (Basel, Switzerland) (30.12.2023)
Published in Cells (Basel, Switzerland) (30.12.2023)
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Myofibrillar Z-discs Are a Protein Phosphorylation Hot Spot with Protein Kinase C (PKCα) Modulating Protein Dynamics
Reimann, Lena, Wiese, Heike, Leber, Yvonne, Schwäble, Anja N., Fricke, Anna L., Rohland, Anne, Knapp, Bettina, Peikert, Christian D., Drepper, Friedel, van der Ven, Peter F.M., Radziwill, Gerald, Fürst, Dieter O., Warscheid, Bettina
Published in Molecular & cellular proteomics (01.03.2017)
Published in Molecular & cellular proteomics (01.03.2017)
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Novel Filamin C Myofibrillar Myopathy Variants Cause Different Pathomechanisms and Alterations in Protein Quality Systems
Sellung, Dominik, Heil, Lorena, Daya, Nassam, Jacobsen, Frank, Mertens-Rill, Janine, Zhuge, Heidi, Döring, Kristina, Piran, Misagh, Milting, Hendrik, Unger, Andreas, Linke, Wolfgang A, Kley, Rudi, Preusse, Corinna, Roos, Andreas, Fürst, Dieter O, Ven, Peter F M van der, Vorgerd, Matthias
Published in Cells (Basel, Switzerland) (05.05.2023)
Published in Cells (Basel, Switzerland) (05.05.2023)
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Pathophysiology of protein aggregation and extended phenotyping in filaminopathy
KLEY, Rudolf A, SERDAROGLU-OFLAZER, Piraye, LEE, Hee S, HÖHFELD, Jörg, DJINOVIC-CARUGO, Kristina, KONG, Kester, TEGENTHOFF, Martin, PETERS, Sören A, STENZEL, Werner, VORGERD, Matthias, GOLDFARB, Lev G, FÜRST, Dieter O, LEBER, Yvonne, ODGEREL, Zagaa, VAN DER VEN, Peter F. M, OLIVE, Montse, FERRER, Isidro, ONIPE, Adekunle, MIHAYLOV, Mariya, BILBAO, Juan M
Published in Brain (London, England : 1878) (01.09.2012)
Published in Brain (London, England : 1878) (01.09.2012)
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A Mutation in the Dimerization Domain of Filamin C Causes a Novel Type of Autosomal Dominant Myofibrillar Myopathy
Vorgerd, Matthias, van der Ven, Peter F.M., Bruchertseifer, Vera, Löwe, Thomas, Kley, Rudolf A., Schröder, Rolf, Lochmüller, Hanns, Himmel, Mirko, Koehler, Katrin, Fürst, Dieter O., Huebner, Angela
Published in American journal of human genetics (01.08.2005)
Published in American journal of human genetics (01.08.2005)
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Desmin Knock-Out Cardiomyopathy: A Heart on the Verge of Metabolic Crisis
Elsnicova, Barbara, Hornikova, Daniela, Tibenska, Veronika, Kolar, David, Tlapakova, Tereza, Schmid, Benjamin, Mallek, Markus, Eggers, Britta, Schlötzer-Schrehardt, Ursula, Peeva, Viktoriya, Berwanger, Carolin, Eberhard, Bettina, Durmuş, Hacer, Schultheis, Dorothea, Holtzhausen, Christian, Schork, Karin, Marcus, Katrin, Jordan, Jens, Lücke, Thomas, van der Ven, Peter F. M., Schröder, Rolf, Clemen, Christoph S., Zurmanova, Jitka M.
Published in International journal of molecular sciences (01.10.2022)
Published in International journal of molecular sciences (01.10.2022)
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Homozygous expression of the myofibrillar myopathy-associated p.W2710X filamin C variant reveals major pathomechanisms of sarcomeric lesion formation
Schuld, Julia, Orfanos, Zacharias, Chevessier, Frédéric, Eggers, Britta, Heil, Lorena, Uszkoreit, Julian, Unger, Andreas, Kirfel, Gregor, van der Ven, Peter F. M, Marcus, Katrin, Linke, Wolfgang A, Clemen, Christoph S, Schröder, Rolf, Fürst, Dieter O
Published in Acta neuropathologica communications (04.09.2020)
Published in Acta neuropathologica communications (04.09.2020)
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Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients
Kley, Rudolf A., Hellenbroich, Yorck, van der Ven, Peter F. M., Fürst, Dieter O., Huebner, Angela, Bruchertseifer, Vera, Peters, Sören A., Heyer, Christoph M., Kirschner, Janbernd, Schröder, Rolf, Fischer, Dirk, Müller, Klaus, Tolksdorf, Karen, Eger, Katharina, Germing, Alfried, Brodherr, Turgut, Reum, Conny, Walter, Maggie C., Lochmüller, Hanns, Ketelsen, Uwe-Peter, Vorgerd, Matthias
Published in Brain (London, England : 1878) (01.12.2007)
Published in Brain (London, England : 1878) (01.12.2007)
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Structural basis for activation of the titin kinase domain during myofibrillogenesis
Wilmanns, Matthias, Gautel, Mathias, Mayans, Olga, van der Ven, Peter F. M, Wilm, Matthias, Mues, Alexander, Young, Paul, Fürst, Dieter O
Published in Nature (London) (29.10.1998)
Published in Nature (London) (29.10.1998)
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Filamin-A-interacting protein 1 (FILIP1) is a dual compartment protein linking myofibrils and microtubules during myogenic differentiation and upon mechanical stress
Grande, Valentina, Schuld, Julia, van der Ven, Peter F. M., Gruss, Oliver J., Fürst, Dieter O.
Published in Cell and tissue research (01.07.2023)
Published in Cell and tissue research (01.07.2023)
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The pathomechanism of filaminopathy: altered biochemical properties explain the cellular phenotype of a protein aggregation myopathy
Löwe, Thomas, Kley, Rudolf A., van der Ven, Peter F.M., Himmel, Mirko, Huebner, Angela, Vorgerd, Matthias, Fürst, Dieter O.
Published in Human molecular genetics (01.06.2007)
Published in Human molecular genetics (01.06.2007)
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Filamin C-related myopathies: pathology and mechanisms
Fürst, Dieter O., Goldfarb, Lev G., Kley, Rudolf A., Vorgerd, Matthias, Olivé, Montse, van der Ven, Peter F. M.
Published in Acta neuropathologica (01.01.2013)
Published in Acta neuropathologica (01.01.2013)
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Xin, an actin binding protein, is expressed within muscle satellite cells and newly regenerated skeletal muscle fibers
Hawke, Thomas J, Atkinson, Daniel J, Kanatous, Shane B, Van der Ven, Peter F. M, Goetsch, Sean C, Garry, Daniel J
Published in American Journal of Physiology: Cell Physiology (01.11.2007)
Published in American Journal of Physiology: Cell Physiology (01.11.2007)
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Differential involvement of sarcomeric proteins in myofibrillar myopathies: a morphological and immunohistochemical study
Claeys, Kristl G., van der Ven, Peter F. M., Behin, Anthony, Stojkovic, Tanya, Eymard, Bruno, Dubourg, Odile, Laforêt, Pascal, Faulkner, Georgine, Richard, Pascale, Vicart, Patrick, Romero, Norma B., Stoltenburg, Gisela, Udd, Bjarne, Fardeau, Michel, Voit, Thomas, Fürst, Dieter O.
Published in Acta neuropathologica (01.03.2009)
Published in Acta neuropathologica (01.03.2009)
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