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6 results on '"Michael K. Cooper"'

1. Failure of human rhombic lip differentiation underlies medulloblastoma formation

Author

Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman, Alexandria H. Sjoboen, Anders W. Erickson, Winnie Ong, Victor Gordon, Ludivine Coudière-Morrison, Audrey L. Mercier, Mohammad Shokouhian, Raúl A. Suárez, Michelle Ly, Stephanie Borlase, David S. Scott, Maria C. Vladoiu, Hamza Farooq, Olga Sirbu, Takuma Nakashima, Shohei Nambu, Yusuke Funakoshi, Alec Bahcheli, J. Javier Diaz-Mejia, Joseph Golser, Kathleen Bach, Tram Phuong-Bao, Patryk Skowron, Evan Y. Wang, Sachin A. Kumar, Polina Balin, Abhirami Visvanathan, John J. Y. Lee, Ramy Ayoub, Xin Chen, Xiaodi Chen, Karen L. Mungall, Betty Luu, Pierre Bérubé, Yu C. Wang, Stefan M. Pfister, Seung-Ki Kim, Olivier Delattre, Franck Bourdeaut, François Doz, Julien Masliah-Planchon, Wieslawa A. Grajkowska, James Loukides, Peter Dirks, Michelle Fèvre-Montange, Anne Jouvet, Pim J. French, Johan M. Kros, Karel Zitterbart, Swneke D. Bailey, Charles G. Eberhart, Amulya A. N. Rao, Caterina Giannini, James M. Olson, Miklós Garami, Peter Hauser, Joanna J. Phillips, Young S. Ra, Carmen de Torres, Jaume Mora, Kay K. W. Li, Ho-Keung Ng, Wai S. Poon, Ian F. Pollack, Enrique López-Aguilar, G. Yancey Gillespie, Timothy E. Van Meter, Tomoko Shofuda, Rajeev Vibhakar, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Toshihiro Kumabe, Shin Jung, Boleslaw Lach, Achille Iolascon, Veronica Ferrucci, Pasqualino de Antonellis, Massimo Zollo, Giuseppe Cinalli, Shenandoah Robinson, Duncan S. Stearns, Erwin G. Van Meir, Paola Porrati, Gaetano Finocchiaro, Maura Massimino, Carlos G. Carlotti, Claudia C. Faria, Martine F. Roussel, Frederick Boop, Jennifer A. Chan, Kimberly A. Aldinger, Ferechte Razavi, Evelina Silvestri, Roger E. McLendon, Eric M. Thompson, Marc Ansari, Maria L. Garre, Fernando Chico, Pilar Eguía, Mario Pérezpeña, A. Sorana Morrissy, Florence M. G. Cavalli, Xiaochong Wu, Craig Daniels, Jeremy N. Rich, Steven J. M. Jones, Richard A. Moore, Marco A. Marra, Xi Huang, Jüri Reimand, Poul H. Sorensen, Robert J. Wechsler-Reya, William A. Weiss, Trevor J. Pugh, Livia Garzia, Claudia L. Kleinman, Lincoln D. Stein, Nada Jabado, David Malkin, Olivier Ayrault, Jeffrey A. Golden, David W. Ellison, Brad Doble, Vijay Ramaswamy, Tamra E. Werbowetski-Ogilvie, Hiromichi Suzuki, Kathleen J. Millen, Michael D. Taylor, Neurology, and Pathology

Subjects
Histone Demethylases, Otx Transcription Factors, Multidisciplinary, Core Binding Factor alpha Subunits, Muscle Proteins, Cell Differentiation, Article, Metencephalon, Repressor Proteins, Ki-67 Antigen, Cerebellum, Mutation, Humans, Cell Lineage, Hedgehog Proteins, Cerebellar Neoplasms, T-Box Domain Proteins, Medulloblastoma, Transcription Factors
Abstract

Medulloblastoma (MB) comprises a group of heterogeneous paediatric embryonal neoplasms of the hindbrain with strong links to early development of the hindbrain 1–4. Mutations that activate Sonic hedgehog signalling lead to Sonic hedgehog MB in the upper rhombic lip (RL) granule cell lineage 5–8. By contrast, mutations that activate WNT signalling lead to WNT MB in the lower RL 9,10. However, little is known about the more commonly occurring group 4 (G4) MB, which is thought to arise in the unipolar brush cell lineage 3,4. Here we demonstrate that somatic mutations that cause G4 MB converge on the core binding factor alpha (CBFA) complex and mutually exclusive alterations that affect CBFA2T2, CBFA2T3, PRDM6, UTX and OTX2. CBFA2T2 is expressed early in the progenitor cells of the cerebellar RL subventricular zone in Homo sapiens, and G4 MB transcriptionally resembles these progenitors but are stalled in developmental time. Knockdown of OTX2 in model systems relieves this differentiation blockade, which allows MB cells to spontaneously proceed along normal developmental differentiation trajectories. The specific nature of the split human RL, which is destined to generate most of the neurons in the human brain, and its high level of susceptible EOMES +KI67 + unipolar brush cell progenitor cells probably predisposes our species to the development of G4 MB.

Published
2022

2. Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation

Author

Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier, Jake Millman, Alexandria H. Sjoboen, Anders W. Erickson, Winnie Ong, Victor Gordon, Ludivine Coudière-Morrison, Audrey L. Mercier, Mohammad Shokouhian, Raúl A. Suárez, Michelle Ly, Stephanie Borlase, David S. Scott, Maria C. Vladoiu, Hamza Farooq, Olga Sirbu, Takuma Nakashima, Shohei Nambu, Yusuke Funakoshi, Alec Bahcheli, J. Javier Diaz-Mejia, Joseph Golser, Kathleen Bach, Tram Phuong-Bao, Patryk Skowron, Evan Y. Wang, Sachin A. Kumar, Polina Balin, Abhirami Visvanathan, John J. Y. Lee, Ramy Ayoub, Xin Chen, Xiaodi Chen, Karen L. Mungall, Betty Luu, Pierre Bérubé, Yu C. Wang, Stefan M. Pfister, Seung-Ki Kim, Olivier Delattre, Franck Bourdeaut, François Doz, Julien Masliah-Planchon, Wieslawa A. Grajkowska, James Loukides, Peter Dirks, Michelle Fèvre-Montange, Anne Jouvet, Pim J. French, Johan M. Kros, Karel Zitterbart, Swneke D. Bailey, Charles G. Eberhart, Amulya A. N. Rao, Caterina Giannini, James M. Olson, Miklós Garami, Peter Hauser, Joanna J. Phillips, Young S. Ra, Carmen de Torres, Jaume Mora, Kay K. W. Li, Ho-Keung Ng, Wai S. Poon, Ian F. Pollack, Enrique López-Aguilar, G. Yancey Gillespie, Timothy E. Van Meter, Tomoko Shofuda, Rajeev Vibhakar, Reid C. Thompson, Michael K. Cooper, Joshua B. Rubin, Toshihiro Kumabe, Shin Jung, Boleslaw Lach, Achille Iolascon, Veronica Ferrucci, Pasqualino de Antonellis, Massimo Zollo, Giuseppe Cinalli, Shenandoah Robinson, Duncan S. Stearns, Erwin G. Van Meir, Paola Porrati, Gaetano Finocchiaro, Maura Massimino, Carlos G. Carlotti, Claudia C. Faria, Martine F. Roussel, Frederick Boop, Jennifer A. Chan, Kimberly A. Aldinger, Ferechte Razavi, Evelina Silvestri, Roger E. McLendon, Eric M. Thompson, Marc Ansari, Maria L. Garre, Fernando Chico, Pilar Eguía, Mario Pérezpeña, A. Sorana Morrissy, Florence M. G. Cavalli, Xiaochong Wu, Craig Daniels, Jeremy N. Rich, Steven J. M. Jones, Richard A. Moore, Marco A. Marra, Xi Huang, Jüri Reimand, Poul H. Sorensen, Robert J. Wechsler-Reya, William A. Weiss, Trevor J. Pugh, Livia Garzia, Claudia L. Kleinman, Lincoln D. Stein, Nada Jabado, David Malkin, Olivier Ayrault, Jeffrey A. Golden, David W. Ellison, Brad Doble, Vijay Ramaswamy, Tamra E. Werbowetski-Ogilvie, Hiromichi Suzuki, Kathleen J. Millen, and Michael D. Taylor

Subjects
Multidisciplinary
Published
2022

3. TERT promoter mutations are highly recurrent in SHH subgroup medulloblastoma

Author

Livia Garzia, Almos Klekner, John Peacock, Uri Tabori, Stephen C. Mack, Ian F. Pollack, Robert J. Wechsler-Reya, Luca Massimi, Toshiro Kumabe, Mark Barszczyk, Charles G. Eberhart, Xiaochong Wu, Seungki-Ki Kim, Michelle Fèvre-Montange, Jaume Mora, Erwin G. Van Meir, David Meyronet, Timothy E. Van Meter, Michael K. Cooper, Linda M. Liau, Betty Luu, Cynthia Hawkins, Pim J. French, Andrey Korshunov, Samer K. Elbabaa, Nadia Hill, Carlos Gilberto Carlotti, Stefan Rutkowski, Xin Wang, Steffen Albrecht, James T. Rutka, Ulrich Schüller, Robert Vanner, Adrian M. Dubuc, Claudia C. Faria, Franck Bourdeaut, Maryam Fouladi, Michael D. Taylor, László Bognár, Stefan M. Pfister, Shin Jung, Anne Jouvet, Miklós Garami, Yoon Jae Cho, Massimo Zollo, Johan M. Kros, François Doz, Eric Bouffet, Marc Remke, Sidney Croul, Young-Shin Ra, Vijaj Ramaswamy, Reid C. Thompson, Florence M.G. Cavalli, Paul A. Northcott, Karel Zitterbart, Ali G. Saad, Peter Hauser, Nada Jabado, William A. Weiss, Boleslaw Lach, Daniel W. Fults, Sorana Morrissy, David Shih, Jeffrey R. Leonard, Sameer Agnihotri, Annie Huang, Darell D. Bigner, Christian Koelsche, Andreas von Deimling, Joshua B. Rubin, Nataliya Zhukova, Rajeev Vibhakar, Scott L. Pomeroy, Marta Perek-Polnik, Roger E. McLendon, Olivier Delattre, David Malkin, Jennifer A. Chan, Wiesława Grajkowska, Marcel Kool, Peter B. Dirks, David T.W. Jones, Pulmonary Medicine, Pathology, Neurology, Marc, Remke, Vijay, Ramaswamy, John, Peacock, David J. H., Shih, Christian, Koelsche, Paul A., Northcott, Nadia, Hill, Florence M. G., Cavalli, Marcel, Kool, Xin, Wang, Stephen C., Mack, Mark, Barszczyk, A., Sorana Morrissy, Xiaochong, Wu, Sameer, Agnihotri, Betty, Luu, David T. W., Jone, Livia, Garzia, Adrian M., Dubuc, Nataliya, Zhukova, Robert, Vanner, Johan M., Kro, Pim J., French, Erwin G., Meir, Rajeev, Vibhakar, Karel, Zitterbart, Jennifer A., Chan, L?szl?, Bogn?r, Almos, Klekner, Boleslaw, Lach, Shin, Jung, Ali G., Saad, Linda M., Liau, Steffen, Albrecht, Zollo, Massimo, Michael K., Cooper, Reid C., Thompson, Oliver O., Delattre, Franck, Bourdeaut, Fran?ois F., Doz, Mikl?s, Garami, Peter, Hauser, Carlos G., Carlotti, Timothy E., Meter, Luca, Massimi, Daniel, Fult, Scott L., Pomeroy, Toshiro, Kumabe, Young Shin, Ra, Jeffrey R., Leonard, Samer K., Elbabaa, Jaume, Mora, Joshua B., Rubin, Yoon Jae, Cho, Roger E., Mclendon, Darell D., Bigner, Charles G., Eberhart, Maryam, Fouladi, Robert J., Wechsler Reya, Claudia C., Faria, Sidney E., Croul, Annie, Huang, Eric, Bouffet, Cynthia E., Hawkin, Peter B., Dirk, William A., Wei, Ulrich, Sch?ller, Ian F., Pollack, Stefan, Rutkowski, David, Meyronet, Anne, Jouvet, Michelle F?vre, Montange, Nada, Jabado, Marta Perek, Polnik, Wieslawa A., Grajkowska, Seung Ki, Kim, James T., Rutka, David, Malkin, Uri, Tabori, Stefan M., Pfister, Andrey, Korshunov, Andreas, Deimling, and Michael D., Taylor

Subjects
Adult, Monosomy, Telomerase, Clinical Neurology, SHH pathway, Biology, Klinikai orvostudományok, medicine.disease_cause, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, SDG 3 - Good Health and Well-being, medicine, Telomerase reverse transcriptase, Medulloblastoma, Original Paper, Mutation, Point mutation, Wnt signaling pathway, Cancer, Orvostudományok, medicine.disease, Molecular biology, 3. Good health, 030220 oncology & carcinogenesis, Cancer research, Neurology (clinical), TERT promoter mutations, 030217 neurology & neurosurgery
Abstract

Telomerase reverse transcriptase (TERT) promoter mutations were recently shown to drive telomerase activity in various cancer types, including medulloblastoma. However, the clinical and biological implications of TERT mutations in medulloblastoma have not been described. Hence, we sought to describe these mutations and their impact in a subgroup-specific manner. We analyzed the TERT promoter by direct sequencing and genotyping in 466 medulloblastomas. The mutational distributions were determined according to subgroup affiliation, demographics, and clinical, prognostic, and molecular features. Integrated genomics approaches were used to identify specific somatic copy number alterations in TERT promoter-mutated and wild-type tumors. Overall, TERT promoter mutations were identified in 21 % of medulloblastomas. Strikingly, the highest frequencies of TERT mutations were observed in SHH (83 %; 55/66) and WNT (31 %; 4/13) medulloblastomas derived from adult patients. Group 3 and Group 4 harbored this alteration in

Published
2013

4. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Author

Michael K. Cooper, Patrycja A. Krakowiak, Jussi Taipale, Christopher A. Wassif, Philip A. Beachy, Richard I. Kelley, Forbes D. Porter, and Ruoyu Gong

Subjects
Time Factors, Receptors, Cell Surface, Chick Embryo, Biology, Transfection, Models, Biological, Receptors, G-Protein-Coupled, Mice, Genetics, medicine, Animals, Humans, Hedgehog Proteins, Lovastatin, Hedgehog, Cells, Cultured, Cyclodextrins, Dose-Response Relationship, Drug, Anticholesteremic Agents, Lathosterolosis, 3T3 Cells, medicine.disease, Precipitin Tests, Smoothened Receptor, Hedgehog signaling pathway, Sterol, Smith-Lemli-Opitz Syndrome, Desmosterolosis, Cholesterol, Biochemistry, Trans-Activators, lipids (amino acids, peptides, and proteins), Signal transduction, Smoothened, Signal Transduction
Abstract

Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis and lathosterolosis are human syndromes caused by defects in the final stages of cholesterol biosynthesis. Many of the developmental malformations in these syndromes occur in tissues and structures whose embryonic patterning depends on signaling by the Hedgehog (Hh) family of secreted proteins. Here we report that response to the Hh signal is compromised in mutant cells from mouse models of SLOS and lathosterolosis and in normal cells pharmacologically depleted of sterols. We show that decreasing levels of cellular sterols correlate with diminishing responsiveness to the Hh signal. This diminished response occurs at sterol levels sufficient for normal autoprocessing of Hh protein, which requires cholesterol as cofactor and covalent adduct. We further find that sterol depletion affects the activity of Smoothened (Smo), an essential component of the Hh signal transduction apparatus.

Published
2003

5. Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine

Author

Jussi Taipale, Matthew P. Scott, Randall K. Mann, James K. Chen, Baolin Wang, Michael K. Cooper, Philip A. Beachy, and Ljiljana Milenkovic

Subjects
Patched Receptors, Patched, Tumor suppressor gene, Cyclopamine, Receptors, Cell Surface, Biology, Proto-Oncogene Mas, Cell Line, Receptors, G-Protein-Coupled, Mice, chemistry.chemical_compound, Animals, Drosophila Proteins, Humans, Hedgehog Proteins, Cloning, Molecular, Hedgehog, Multidisciplinary, Intracellular Signaling Peptides and Proteins, Veratrum Alkaloids, Membrane Proteins, Proteins, Basal Cell Nevus Syndrome, 3T3 Cells, Oncogenes, Antineoplastic Agents, Phytogenic, Smoothened Receptor, Hedgehog signaling pathway, Patched-1 Receptor, Cell Transformation, Neoplastic, Gene Expression Regulation, Biochemistry, chemistry, Mutation, Trans-Activators, Cancer research, Drosophila, Smoothened, Signal Transduction
Abstract

Basal cell carcinoma, medulloblastoma, rhabdomyosarcoma and other human tumours are associated with mutations that activate the proto-oncogene Smoothened (SMO) or that inactivate the tumour suppressor Patched (PTCH). Smoothened and Patched mediate the cellular response to the Hedgehog (Hh) secreted protein signal, and oncogenic mutations affecting these proteins cause excess activity of the Hh response pathway. Here we show that the plant-derived teratogen cyclopamine, which inhibits the Hh response, is a potential 'mechanism-based' therapeutic agent for treatment of these tumours. We show that cyclopamine or synthetic derivatives with improved potency block activation of the Hh response pathway and abnormal cell growth associated with both types of oncogenic mutation. Our results also indicate that cyclopamine may act by influencing the balance between active and inactive forms of Smoothened.

Published
2000

6. Erratum: Patched acts catalytically to suppress the activity of Smoothened

Author

Michael K. Cooper, Philip A. Beachy, Jussi Taipale, and Tapan Maiti

Subjects
Patched, Multidisciplinary, Chemistry, Smoothened, Cell biology
Abstract

Nature 418, 892–897 (2002). In the US printing only of this issue of Nature, panels c and d of Fig. 2 in this Letter appeared much darker than intended. The immunofluorescence in these panels shows the distinct subcellular localizations of Ptc and Smo in cells, which support the argument against stoichiometric interaction.

Published
2002

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