PLEKHM1 Regulates Autophagosome-Lysosome Fusion through HOPS Complex and LC3/GABARAP Proteins
McEwan, David G., Popovic, Doris, Gubas, Andrea, Terawaki, Seigo, Suzuki, Hironori, Stadel, Daniela, Coxon, Fraser P., Miranda de Stegmann, Diana, Bhogaraju, Sagar, Maddi, Karthik, Kirchof, Anja, Gatti, Evelina, Helfrich, Miep H., Wakatsuki, Soichi, Behrends, Christian, Pierre, Philippe, Dikic, Ivan
Published in Molecular cell (08.01.2015)
Published in Molecular cell (08.01.2015)
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Journal Article
Autophagy: A new player in skeletal maintenance?
Hocking, Lynne J, Whitehouse, Caroline, Helfrich, Miep H
Published in Journal of bone and mineral research (01.07.2012)
Published in Journal of bone and mineral research (01.07.2012)
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Journal Article
End stage renal disease‐induced hypercalcemia may promote aortic valve calcification via Annexin VI enrichment of valve interstitial cell derived‐matrix vesicles
Cui, Lin, Rashdan, Nabil A., Zhu, Dongxing, Milne, Elspeth M., Ajuh, Paul, Milne, Gillian, Helfrich, Miep H., Lim, Kelvin, Prasad, Sai, Lerman, Daniel A., Vesey, Alex T., Dweck, Marc R., Jenkins, William S., Newby, David E., Farquharson, Colin, Macrae, Vicky E.
Published in Journal of cellular physiology (01.11.2017)
Published in Journal of cellular physiology (01.11.2017)
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Journal Article
PLEKHM1 Regulates Salmonella-Containing Vacuole Biogenesis and Infection
McEwan, David G., Richter, Benjamin, Claudi, Beatrice, Wigge, Christoph, Wild, Philipp, Farhan, Hesso, McGourty, Kieran, Coxon, Fraser P., Franz-Wachtel, Mirita, Perdu, Bram, Akutsu, Masato, Habermann, Anja, Kirchof, Anja, Helfrich, Miep H., Odgren, Paul R., Van Hul, Wim, Frangakis, Achilleas S., Rajalingam, Krishnaraj, Macek, Boris, Holden, David W., Bumann, Dirk, Dikic, Ivan
Published in Cell host & microbe (14.01.2015)
Published in Cell host & microbe (14.01.2015)
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Journal Article
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL
Frattini, Annalisa, Sobacchi, Cristina, Guerrini, Matteo M, Abinun, Mario, Pangrazio, Alessandra, Susani, Lucia, Bredius, Robbert, Mancini, Grazia, Cant, Andrew, Bishop, Nick, Grabowski, Peter, Del Fattore, Andrea, Messina, Chiara, Errigo, Gabriella, Coxon, Fraser P, Scott, Debbie I, Teti, Anna, Rogers, Michael J, Vezzoni, Paolo, Villa, Anna, Helfrich, Miep H
Published in Nature genetics (01.08.2007)
Published in Nature genetics (01.08.2007)
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Journal Article
SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts
Stattin, Eva-Lena, Henning, Petra, Klar, Joakim, McDermott, Emma, Stecksen-Blicks, Christina, Sandström, Per-Erik, Kellgren, Therese G., Rydén, Patrik, Hallmans, Göran, Lönnerholm, Torsten, Ameur, Adam, Helfrich, Miep H., Coxon, Fraser P., Dahl, Niklas, Wikström, Johan, Lerner, Ulf H.
Published in Scientific reports (07.06.2017)
Published in Scientific reports (07.06.2017)
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Journal Article
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans
Van Wesenbeeck, Liesbeth, Odgren, Paul R, Coxon, Fraser P, Frattini, Annalisa, Moens, Pierre, Perdu, Bram, MacKay, Carole A, Van Hul, Els, Timmermans, Jean-Pierre, Vanhoenacker, Filip, Jacobs, Ruben, Peruzzi, Barbara, Teti, Anna, Helfrich, Miep H, Rogers, Michael J, Villa, Anna, Van Hul, Wim
Published in The Journal of clinical investigation (01.04.2007)
Published in The Journal of clinical investigation (01.04.2007)
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Journal Article
Osteopetrosis: genetics, treatment and new insights into osteoclast function
Sobacchi, Cristina, Schulz, Ansgar, Coxon, Fraser P., Villa, Anna, Helfrich, Miep H.
Published in Nature reviews. Endocrinology (01.09.2013)
Published in Nature reviews. Endocrinology (01.09.2013)
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Journal Article
Functional interaction between Sequestosome-1/p62 and Autophagy-Linked FYVE-containing protein WDFY3 in human osteoclasts
Hocking, Lynne J., Mellis, David J., McCabe, Paul S., Helfrich, Miep H., Rogers, Michael J.
Published in Biochemical and biophysical research communications (19.11.2010)
Published in Biochemical and biophysical research communications (19.11.2010)
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Journal Article
Signal peptide mutations in RANK prevent downstream activation of NF‐κB
Crockett, Julie C, Mellis, David J, Shennan, Kathleen IJ, Duthie, Angela, Greenhorn, John, Wilkinson, Debbie I, Ralston, Stuart H, Helfrich, Miep H, Rogers, Michael J
Published in Journal of bone and mineral research (01.08.2011)
Published in Journal of bone and mineral research (01.08.2011)
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Journal Article
A New Heterozygous Mutation (R714C) of the Osteopetrosis Gene, Pleckstrin Homolog Domain Containing Family M (With Run Domain) Member 1 (PLEKHM1), Impairs Vesicular Acidification and Increases TRACP Secretion in Osteoclasts
Del Fattore, Andrea, Fornari, Rachele, Van Wesenbeeck, Liesbeth, de Freitas, Fenna, Timmermans, Jean‐Pierre, Peruzzi, Barbara, Cappariello, Alfredo, Rucci, Nadia, Spera, Giovanni, Helfrich, Miep H, Van Hul, Wim, Migliaccio, Silvia, Teti, Anna
Published in Journal of bone and mineral research (01.03.2008)
Published in Journal of bone and mineral research (01.03.2008)
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Journal Article
Bone remodelling at a glance
Crockett, Julie C, Rogers, Michael J, Coxon, Fraser P, Hocking, Lynne J, Helfrich, Miep H
Published in Journal of cell science (01.04.2011)
Published in Journal of cell science (01.04.2011)
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Journal Article
Osteoclast heterogeneity: lessons from osteopetrosis and inflammatory conditions
Everts, Vincent, de Vries, Teun J, Helfrich, Miep H
Published in Biochimica et biophysica acta (01.08.2009)
Published in Biochimica et biophysica acta (01.08.2009)
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A mutation in the c-myc-IRES leads to enhanced internal ribosome entry in multiple myeloma : A novel mechanism of oncogene de-regulation
CHAPPELL, Stephen A, LEQUESNE, John P. C, PAULIN, Fiona E. M, DESCHOOLMEESTER, Matthew L, STONELEY, Mark, SOUTAR, Richard L, RALSTON, Stuart H, HELFRICH, Miep H, WILLIS, Anne E
Published in Oncogene (07.09.2000)
Published in Oncogene (07.09.2000)
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Journal Article
Glycan degradation promotes macroautophagy
Baudot, Alice D, Wang, Victoria M-Y, Leach, Josh D, O'Prey, Jim, Long, Jaclyn S, Paulus-Hock, Viola, Lilla, Sergio, Thomson, David M, Greenhorn, John, Ghaffar, Farah, Nixon, Colin, Helfrich, Miep H, Strathdee, Douglas, Pratt, Judith, Marchesi, Francesco, Zanivan, Sara, Ryan, Kevin M
Published in Proceedings of the National Academy of Sciences - PNAS (28.06.2022)
Published in Proceedings of the National Academy of Sciences - PNAS (28.06.2022)
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Journal Article
Impaired prenylation of Rab GTPases in the gunmetal mouse causes defects in bone cell function
Taylor, Adam, Mules, Emilie H., Seabra, Miguel C., Helfrich, Miep H., Rogers, Michael J., Coxon, Fraser P.
Published in Small GTPases (01.05.2011)
Published in Small GTPases (01.05.2011)
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Journal Article
Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A ( RANK) Mutations
Guerrini, Matteo M., Sobacchi, Cristina, Cassani, Barbara, Abinun, Mario, Kilic, Sara S., Pangrazio, Alessandra, Moratto, Daniele, Mazzolari, Evelina, Clayton-Smith, Jill, Orchard, Paul, Coxon, Fraser P., Helfrich, Miep H., Crockett, Julie C., Mellis, David, Vellodi, Ashok, Tezcan, Ilhan, Notarangelo, Luigi D., Rogers, Michael J., Vezzoni, Paolo, Villa, Anna, Frattini, Annalisa
Published in American journal of human genetics (01.07.2008)
Published in American journal of human genetics (01.07.2008)
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