Search Results - "Helfrich, Miep"

PLEKHM1 Regulates Autophagosome-Lysosome Fusion through HOPS Complex and LC3/GABARAP Proteins by 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

“…The lysosome is the final destination for degradation of endocytic cargo, plasma membrane constituents, and intracellular components sequestered by…”
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Osteopetrosis: genetics, treatment and new insights into osteoclast function by Sobacchi, Cristina, Schulz, Ansgar, Coxon, Fraser P., Villa, Anna, Helfrich, Miep H.

“…Sobacchi and colleagues discuss the clinical presentation and diagnosis of autosomal recessive osteopetrosis, a rare genetic condition characterized by…”
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Autophagy: A new player in skeletal maintenance? by Hocking, Lynne J, Whitehouse, Caroline, Helfrich, Miep H

“…Imbalances between bone resorption and formation lie at the root of disorders such as osteoporosis, Paget's disease of bone (PDB), and osteopetrosis. Recently,…”
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Bone remodelling at a glance by Crockett, Julie C, Rogers, Michael J, Coxon, Fraser P, Hocking, Lynne J, Helfrich, Miep H

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PLEKHM1 Regulates Salmonella-Containing Vacuole Biogenesis and Infection by 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

“…The host endolysosomal compartment is often manipulated by intracellular bacterial pathogens. Salmonella (Salmonella enterica serovar Typhimurium) secrete…”
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End stage renal disease‐induced hypercalcemia may promote aortic valve calcification via Annexin VI enrichment of valve interstitial cell derived‐matrix vesicles by 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.

“…Patients with end‐stage renal disease (ESRD) have elevated circulating calcium (Ca) and phosphate (Pi), and exhibit accelerated progression of calcific aortic…”
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The skeleton: a multi-functional complex organ. The role of key signalling pathways in osteoclast differentiation and in bone resorption by Mellis, David J, Itzstein, Cecile, Helfrich, Miep H, Crockett, Julie C

“…Osteoclasts are the specialised cells that resorb bone matrix and are important both for the growth and shaping of bones throughout development as well as…”
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Osteoclast heterogeneity: lessons from osteopetrosis and inflammatory conditions by Everts, Vincent, de Vries, Teun J, Helfrich, Miep H

“…The multinucleated osteoclast has a unique function: degradation of mineralized tissues. It is generally taken that all osteoclasts are alike, independent of…”
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Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL by 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

“…Autosomal recessive osteopetrosis is usually associated with normal or elevated numbers of nonfunctional osteoclasts. Here we report mutations in the gene…”
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Glycan degradation promotes macroautophagy by 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

“…Macroautophagy promotes cellular homeostasis by delivering cytoplasmic constituents to lysosomes for degradation [Mizushima, 20, 521-527 (2018)]. However,…”
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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts by 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.

“…Autosomal recessive osteopetrosis (ARO) is a heterogeneous disorder, characterized by defective osteoclastic resorption of bone that results in increased bone…”
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Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans by 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

“…This study illustrates that Plekhm1 is an essential protein for bone resorption, as loss-of-function mutations were found to underlie the osteopetrotic…”
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Human Osteoclast-Poor Osteopetrosis with Hypogammaglobulinemia due to TNFRSF11A ( RANK) Mutations by 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

“…Autosomal-Recessive Osteopetrosis (ARO) comprises a heterogeneous group of bone diseases for which mutations in five genes are known as causative. Most ARO are…”
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A Class III Semaphorin (Sema3e) Inhibits Mouse Osteoblast Migration and Decreases Osteoclast Formation In Vitro by Hughes, Alun, Kleine-Albers, Jennifer, Helfrich, Miep H., Ralston, Stuart H., Rogers, Michael J.

“…Originally identified as axonal guidance cues, semaphorins are expressed throughout many different tissues and regulate numerous non-neuronal processes. We…”
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Genetics and aetiology of Pagetic disorders of bone by Helfrich, Miep H., Hocking, Lynne J.

“…Paget’s disease of bone (PDB) is a late-onset disorder characterised by focal areas of increased bone turnover containing enlarged hyperactive osteoclasts. The…”
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Osteoclast diseases by Helfrich, Miep H.

“…Osteoclasts are the only cells capable of resorbing mineralised bone, dentine and cartilage. Osteoclasts act in close concert with bone forming osteoblasts to…”
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RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations by Pangrazio, Alessandra, Cassani, Barbara, Guerrini, Matteo M, Crockett, Julie C, Marrella, Veronica, Zammataro, Luca, Strina, Dario, Schulz, Ansgar, Schlack, Claire, Kornak, Uwe, Mellis, David J, Duthie, Angela, Helfrich, Miep H, Durandy, Anne, Moshous, Despina, Vellodi, Ashok, Chiesa, Robert, Veys, Paul, Lo Iacono, Nadia, Vezzoni, Paolo, Fischer, Alain, Villa, Anna, Sobacchi, Cristina

“…Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed to reduced bone resorption by osteoclasts. Most human AROs are…”
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Parallel-plate fluid flow systems for bone cell stimulation by Huesa, Carmen, Helfrich, Miep H, Aspden, Richard M

“…Abstract Bone responds to changes in its mechanical environment, but the mechanisms by which it does so are poorly understood. One hypothesis of mechanosensing…”
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Signal peptide mutations in RANK prevent downstream activation of NF‐κB by 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

“…Familial expansile osteolysis and related disorders are caused by heterozygous tandem duplication mutations in the signal peptide region of the gene encoding…”
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ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta by Lisse, Thomas S, Thiele, Frank, Fuchs, Helmut, Hans, Wolfgang, Przemeck, Gerhard K H, Abe, Koichiro, Rathkolb, Birgit, Quintanilla-Martinez, Leticia, Hoelzlwimmer, Gabriele, Helfrich, Miep, Wolf, Eckhard, Ralston, Stuart H, Hrabé de Angelis, Martin

“…Osteogenesis imperfecta is an inherited disorder characterized by increased bone fragility, fractures, and osteoporosis, and most cases are caused by mutations…”
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