Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Thorsten Althoff"'
Autor:
Farha Khan, Matthias Elgeti, Samuel Grandfield, Aviv Paz, Fiona B. Naughton, Frank V. Marcoline, Thorsten Althoff, Natalia Ermolova, Ernest M. Wright, Wayne L. Hubbell, Michael Grabe, Jeff Abramson
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-12 (2023)
Abstract Sodium-dependent glucose transporters (SGLTs) couple a downhill Na+ ion gradient to actively transport sugars. Here, we investigate the impact of the membrane potential on vSGLT structure and function using sugar uptake assays, double electr
Externí odkaz:
https://doaj.org/article/14990935ce0547d8bbd11e73b798bc03
Autor:
Ilaria Mannucci, Nghi D. P. Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth Baynam, David Bearden, Ana Beleza-Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frederic Bilan, Laurence A. Bindoff, Geir Julius Braathen, Øyvind L. Busk, Jirat Chenbhanich, Jonas Denecke, Luis F. Escobar, Caroline Estes, Julie Fleischer, Daniel Groepper, Charlotte A. Haaxma, Maja Hempel, Yolanda Holler-Managan, Gunnar Houge, Adam Jackson, Laura Kellogg, Boris Keren, Catherine Kiraly-Borri, Cornelia Kraus, Christian Kubisch, Gwenael Le Guyader, Ulf W. Ljungblad, Leslie Manace Brenman, Julian A. Martinez-Agosto, Matthew Might, David T. Miller, Kelly Q. Minks, Billur Moghaddam, Caroline Nava, Stanley F. Nelson, John M. Parant, Trine Prescott, Farrah Rajabi, Hanitra Randrianaivo, Simone F. Reiter, Janneke Schuurs-Hoeijmakers, Perry B. Shieh, Anne Slavotinek, Sarah Smithson, Alexander P. A. Stegmann, Kinga Tomczak, Kristian Tveten, Jun Wang, Jordan H. Whitlock, Christiane Zweier, Kirsty McWalter, Jane Juusola, Fabiola Quintero-Rivera, Utz Fischer, Nan Cher Yeo, Hans-Jürgen Kreienkamp, Davor Lessel
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through
Externí odkaz:
https://doaj.org/article/c447334b912746929ee920eb4139f48f
Autor:
Aaron D Besterman, Thorsten Althoff, Peter Elfferich, Irma Gutierrez-Mejia, Joshua Sadik, Jonathan A Bernstein, Yvette van Ierland, Anja A Kattentidt-Mouravieva, Mark Nellist, Jeff Abramson, Julian A Martinez-Agosto
Publikováno v:
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)
Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures. It is caused by dominant missense mutations in MTOR. The pathoge
Externí odkaz:
https://doaj.org/article/f757fb86f4094e309faddeac52736bbc
Autor:
Paola Bisignano, Chiara Ghezzi, Hyunil Jo, Nicholas F. Polizzi, Thorsten Althoff, Chakrapani Kalyanaraman, Rosmarie Friemann, Matthew P. Jacobson, Ernest M. Wright, Michael Grabe
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-10 (2018)
Sodium-dependent glucose transporters (SGLTs) transport sugars across the plasma membrane and play important roles in renal sugar reabsorption. Here authors develop structural models of human SGLT1/2 (hSGLT1/2) in complex with inhibitors which helps
Externí odkaz:
https://doaj.org/article/028c1db90c9e4f9fab9c0de09fee91eb
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Current Förster resonance energy transfer (FRET)-based fluorescence spectroscopy methods are suffering from some limitations in the field of structural biology. Here, the authors present an optical approach, distance-encoding photoinduced electron t
Externí odkaz:
https://doaj.org/article/f1172d0d9bfc4212b5f2cb168895e7c0
Autor:
Irma Gutierrez-Mejia, Thorsten Althoff, Anja A. Kattentidt-Mouravieva, Yvette van Ierland, Joshua Sadik, Mark Nellist, Aaron D. Besterman, Julian A. Martinez-Agosto, Jonathan A. Bernstein, Jeff Abramson, Peter Elfferich
Publikováno v:
PLoS genetics, vol 17, iss 7
PLoS Genetics, 17(7):e1009651. Public Library of Science
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)
PLoS Genetics, 17(7):e1009651. Public Library of Science
PLoS Genetics
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)
Smith-Kingsmore syndrome (SKS) is a rare neurodevelopmental disorder characterized by macrocephaly/megalencephaly, developmental delay, intellectual disability, hypotonia, and seizures. It is caused by dominant missense mutations in MTOR. The pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2b5021b769fc2c5047eb261278eff5a
https://escholarship.org/uc/item/48x1267f
https://escholarship.org/uc/item/48x1267f
Autor:
Nghi Dang, Jonas Denecke, Jaclyn B. Murry, Laurence A. Bindoff, Tatjana Bierhals, Caroline Nava, Jordan H. Whitlock, Anne Slavotinek, Julian A. Martinez-Agosto, Frédéric Bilan, Ana Beleza-Meireles, Caroline Estes, Janneke H M Schuurs-Hoeijmakers, Adam Jackson, Christiane Zweier, David T. Miller, Kirsty McWalter, Gunnar Houge, Boris Keren, Jun Wang, Kinga K. Tomczak, Hans-Jürgen Kreienkamp, Siren Berland, Fabiola Quintero-Rivera, Charlotte A. Haaxma, Gwenaël Le Guyader, Laura Kellogg, Siddharth Banka, John M. Parant, Nan Cher Yeo, Jirat Chenbhanich, Davor Lessel, Cornelia Kraus, Yolanda Holler-Managan, Kelly Q. Minks, Julie Fleischer, Sarah F. Smithson, Geir J. Braathen, Ilaria Mannucci, Stanley F. Nelson, Trine Prescott, Luis F. Escobar, Simone F. Reiter, Kristian Tveten, David Bearden, Utz Fischer, Christian Kubisch, Perry B. Shieh, Jeff Abramson, Jane Juusola, Maja Hempel, Ulf W. Ljungblad, Daniel Groepper, Hannes Huber, Billur Moghaddam, Leslie Manace Brenman, Thorsten Althoff, Matthew Might, Alexander P.A. Stegmann, Cathy Kiraly-Borri, Øyvind L. Busk, Gareth Baynam, Hanitra Randrianaivo, Paul J. Benke, Farrah Rajabi
Publikováno v:
Genome Medicine, 13, 1
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Genome Medicine, 13(1):90. BioMed Central Ltd
Genome Medicine, 13
Genome medicine, vol 13, iss 1
Mannucci, I, Dang, N D P, Huber, H, Murry, J B, Abramson, J, Althoff, T, Banka, S, Baynam, G, Bearden, D, Beleza-Meireles, A, Benke, P J, Berland, S, Bierhals, T, Bilan, F, Bindoff, L A, Braathen, G J, Busk, Ø L, Chenbhanich, J, Denecke, J, Escobar, L F, Estes, C, Fleischer, J, Groepper, D, Haaxma, C A, Hempel, M, Holler-Managan, Y, Jackson, A, Kellogg, L, Keren, B, Kiraly-Borri, C, Kraus, C, Kubisch, C, Le Guyader, G, Ljungblad, U W, Brenman, L M, Martinez-Agosto, J A, Might, M, Miller, D T, Minks, K Q, Moghaddam, B, Nava, C, Nelson, S F, Parant, J M, Prescott, T, Rajabi, F, Randrianaivo, H, Reiter, S F, Schuurs-Hoeijmakers, J, Shieh, P B, Slavotinek, A, Stegmann, A P A, Tomczak, K, Tveten, K, Wang, J, Whitlock, J H, Zweier, C, McWalter, K, Juusola, J, Quintero-Rivera, F, Fischer, U, Yeo, N C, Kreienkamp, H-J & Lessel, D 2021, ' Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders ', Genome Medicine, vol. 13, no. 1, 90 . https://doi.org/10.1186/s13073-021-00900-3
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Genome Medicine
Mannucci, Ilaria; Dang, Nghi D P; Huber, Hannes; Murry, Jaclyn B; Abramson, Jeff; Althoff, Thorsten; Banka, Siddharth; Baynam, Gareth; Bearden, David; Beleza-Meireles, Ana; Benke, Paul J; Berland, Siren; Bierhals, Tatjana; Bilan, Frederic; Bindoff, Laurence A; Braathen, Geir Julius; Busk, Øyvind L; Chenbhanich, Jirat; Denecke, Jonas; Escobar, Luis F; ... (2021). Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome medicine, 13(1), p. 90. BioMed Central 10.1186/s13073-021-00900-3
Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook
Autor:
Belinda Faust, Aldons J. Lusis, Karthickeyan Chella Krishnan, Laura Nocito, Shi Su, Mayuko Segawa, Maria E. Zoghbi, Melissa Martinez, Vincent Gutierrez, Jeff Abramson, Elisabeth P. Carpenter, Roslin J. Adamson, C.A. Shintre, Michaela Veliova, Andrea L. Hevener, Dane M. Wolf, Raffi Gharakhanian, Marc Liesa, Margaret R. Young, Jennifer Ngo, Thorsten Althoff, Kiana Mahdaviani, Michael Shum, Alexandra D. Saxberg, Linsey Stiles
Publikováno v:
Sci Transl Med
Although the role of hydrophilic antioxidants in the development of hepatic insulin resistance and nonalcoholic fatty liver disease has been well studied, the role of lipophilic antioxidants remains poorly characterized. A known lipophilic hydrogen p
Autor:
Jens C. Laue, Thorsten Althoff, Niels Beyer, Dietmar Glage, Jan-Hendrik Gnändiger, Jan Joos, Ulf Lipske, Sascha Meng, Stefan Otremba, Julia Quade, Ulrich Vogt, Annika Wegner
Zur Wahrung der Grundsätze guter Unternehmensführung decken Corporate-Governance-Systeme heute vielseitige Funktionen ab: ob zur Sicherung rechtlich einwandfreier Unternehmensentscheidungen, bei der Vertretung von Stakeholder-Interessen oder im Umg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ed83e7dc69333328313bd2c6b491f726
https://doi.org/10.37307/b.978-3-503-19509-1
https://doi.org/10.37307/b.978-3-503-19509-1
Autor:
Alexander P.A. Stegmann, Jun Wang, Anne Slavotinek, Cornelia Kraus, Paul J. Benke, Christiane Zweier, Fabiola Quintero-Rivera, Øyvind L. Busk, Kirsty McWalter, Hans-Jürgen Kreienkamp, Luis F. Escobar, Geir J. Braathen, Kristian Tveten, Farrah Rajabi, Charlotte A. Haaxma, David Bearden, John M. Parant, Yolanda Holler-Managan, Nghi Dang, Leslie Manace Brenman, Ana Beleza, Thorsten Althoff, Cathy Kiraly-Borri, Maja Hempel, Christian Kubisch, Kelly Q. Minks, Laura Kellogg, Hannes Huber, Ulf W. Ljungblad, Hanitra Randrianaivo, Perry B. Shieh, Jeff Abramson, Jirat Chenbhanich, Jonas Denecke, Billur Moghaddam, Gareth Baynam, Kinga K. Tomczak, Matthew Might, Jane Juusola, Jordan H. Whitlock, Gunnar Houge, Julie Fleischer, Laurence A. Bindoff, Siren Berland, Tatjana Bierhals, Adam Jackson, Gwenaël Le Guyader, Stanley F. Nelson, Caroline Estes, Nan Cher Yeo, Simone F. Reiter, Utz Fischer, Sarah F. Smithson, Daniel Groepper, Siddharth Banka, Davor Lessel, Frédéric Bilan, Ilaria Mannucci, Trine Prescott, David T. Miller, Janneke H M Schuurs-Hoeijmakers, Boris Keren, Jaclyn B. Murry, Caroline Nava, Julian A. Martinez-Agosto
BackgroundWe aimed to define the clinical and mutational spectrum, and to provide novel molecular insights into DHX30-associated neurodevelopmental disorder.MethodsClinical and genetic data from affected individuals were collected through family supp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f76f0fda77edaab5af461715f228d85b
https://doi.org/10.1101/2020.09.24.20196097
https://doi.org/10.1101/2020.09.24.20196097