Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Riccardo, Ronzoni"'
Development of a small molecule that corrects misfolding and increases secretion of Z α1‐antitrypsin
Autor:
David A Lomas, James A Irving, Christopher Arico‐Muendel, Svetlana Belyanskaya, Andrew Brewster, Murray Brown, Chun‐wa Chung, Hitesh Dave, Alexis Denis, Nerina Dodic, Anthony Dossang, Peter Eddershaw, Diana Klimaszewska, Imran Haq, Duncan S Holmes, Jonathan P Hutchinson, Alistair M Jagger, Toral Jakhria, Emilie Jigorel, John Liddle, Ken Lind, Stefan J Marciniak, Jeff Messer, Margaret Neu, Allison Olszewski, Adriana Ordonez, Riccardo Ronzoni, James Rowedder, Martin Rüdiger, Steve Skinner, Kathrine J Smith, Rebecca Terry, Lionel Trottet, Iain Uings, Steve Wilson, Zhengrong Zhu, Andrew C Pearce
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 3, Pp n/a-n/a (2021)
Abstract Severe α1‐antitrypsin deficiency results from the Z allele (Glu342Lys) that causes the accumulation of homopolymers of mutant α1‐antitrypsin within the endoplasmic reticulum of hepatocytes in association with liver disease. We have use
Externí odkaz:
https://doaj.org/article/73075a476ae1421891a994ecbcb35e20
Autor:
Riccardo Ronzoni, Ilaria Ferrarotti, Emanuela D’Acunto, Alice M. Balderacchi, Stefania Ottaviani, David A. Lomas, James A. Irving, Elena Miranda, Annamaria Fra
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 11, p 5668 (2021)
Alpha-1-antitrypsin (AAT) deficiency causes pulmonary disease due to decreased levels of circulating AAT and consequently unbalanced protease activity in the lungs. Deposition of specific AAT variants, such as the common Z AAT, within hepatocytes may
Externí odkaz:
https://doaj.org/article/60628c5796ca46fe8964acc684f1df3e
Autor:
Britta Handyside, Lening Zhang, Katina Ngo, Ryan Murphy, Joseph Chen, Nicole Galicia, Olivia Gorostiza, Glenn Pacheco, Lin Xie, Donald Mackenzie, Heidi Jones, Brian Heglar, Bing Wang, Shripad Bhagwat, David Lomas, James Irving, Riccardo Ronzoni, Sherry Bullens, Sylvia Fong, Stuart Bunting
Publikováno v:
Journal of Hepatology. 77:S534
Autor:
Martin Rüdiger, Chun-wa Chung, Jonathan P. Hutchinson, Christopher C. Arico-Muendel, Svetlana L. Belyanskaya, Allison Olszewski, Nerina Dodic, Duncan S. Holmes, Anthony Dossang, Andrew C. Pearce, Alistair M. Jagger, Steve Wilson, Adriana Ordóñez, David A. Lomas, Toral Jakhria, Iain Uings, Hitesh Dave, Zhengrong Zhu, Stefan J. Marciniak, Alexis Denis, Lionel Trottet, Kathrine J. Smith, Murray J. B. Brown, Imran Haq, James A. Irving, Steve Skinner, Margaret Neu, Diana Klimaszewska, Peter Eddershaw, Riccardo Ronzoni, James E. Rowedder, Andrew Brewster, John Liddle, Emilie Jigorel, Jeffrey A. Messer, Ken Lind, Rebecca Terry
Publikováno v:
EMBO Molecular Medicine
EMBO Molecular Medicine, Vol 13, Iss 3, Pp n/a-n/a (2021)
EMBO Molecular Medicine, Vol 13, Iss 3, Pp n/a-n/a (2021)
Severe α1‐antitrypsin deficiency results from the Z allele (Glu342Lys) that causes the accumulation of homopolymers of mutant α1‐antitrypsin within the endoplasmic reticulum of hepatocytes in association with liver disease. We have used a DNA
Autor:
James A. Irving, Annamaria Fra, Stefania Ottaviani, David A. Lomas, Alice Maria Balderacchi, Emanuela D'Acunto, Elena Miranda, Riccardo Ronzoni, Ilaria Ferrarotti
Publikováno v:
International Journal of Molecular Sciences, Vol 22, Iss 5668, p 5668 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 11
International Journal of Molecular Sciences
Volume 22
Issue 11
Alpha-1-antitrypsin (AAT) deficiency causes pulmonary disease due to decreased levels of circulating AAT and consequently unbalanced protease activity in the lungs. Deposition of specific AAT variants, such as the common Z AAT, within hepatocytes may
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cef1e8f11d73bab7b948810534daf6eb
http://hdl.handle.net/11379/545282
http://hdl.handle.net/11379/545282
Autor:
John, Liddle, Andrew C, Pearce, Christopher, Arico-Muendel, Svetlana, Belyanskaya, Andrew, Brewster, Murray, Brown, Chun-Wa, Chung, Alexis, Denis, Nerina, Dodic, Anthony, Dossang, Peter, Eddershaw, Diana, Klimaszewska, Imran, Haq, Duncan S, Holmes, Alistair, Jagger, Toral, Jakhria, Emilie, Jigorel, Ken, Lind, Jeff, Messer, Margaret, Neu, Allison, Olszewski, Riccardo, Ronzoni, James, Rowedder, Martin, Rüdiger, Steve, Skinner, Kathrine J, Smith, Lionel, Trottet, Iain, Uings, Zhengrong, Zhu, James A, Irving, David A, Lomas
Publikováno v:
Bioorganicmedicinal chemistry letters. 41
α1-antitrypsin deficiency is characterised by the misfolding and intracellular polymerisation of mutant α1-antitrypsin protein within the endoplasmic reticulum (ER) of hepatocytes. Small molecules that bind and stabilise Z α
Autor:
Riccardo, Ronzoni, Nina, Heyer-Chauhan, Annamaria, Fra, Andrew C, Pearce, Martin, Rüdiger, Elena, Miranda, James A, Irving, David A, Lomas
Publikováno v:
The Febs Journal
The formation of ordered Z α1‐antitrypsin polymers is central to liver disease in α1‐antitrypsin deficiency. The nascent α1‐antitrypsin folds via the M* intermediate to native monomer or becomes incorporated into a soluble polymer that can b
Development of a small molecule that corrects misfolding and increases secretion of Z α1-antitrypsin
Autor:
Stefan J. Marciniak, Martin Rüdiger, Hitesh Dave, Jonathan P. Hutchinson, Margaret Neu, Anthony Dossang, Riccardo Ronzoni, Lionel Trottet, Adriana Ordóñez, Chun-wa Chung, Christopher C. Arico-Muendel, Alexis Denis, Allison Olszewski, Andrew C. Pearce, Ken Lind, Peter Eddershaw, Andrew Brewster, Rebecca Terry, Jeffrey A. Messer, John Liddle, Iain Uings, Emilie Jigorel, James A. Irving, Nerina Dodic, Zhengrong Zhu, Kathrine J. Smith, Duncan S. Holmes, Steve Skinner, Steve Wilson, David A. Lomas, Diana Klimaszewska, James E. Rowedder, Murray J. B. Brown, Alistair M. Jagger, Toral Jakhria, Imran Haq, Svetlana L. Belyanskaya
Severe α1-antitrypsin deficiency results from the Z allele (Glu342Lys) that causes the accumulation of homopolymers of mutant α1-antitrypsin within the endoplasmic reticulum of hepatocytes in association with liver disease. We have used a DNA-encod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::af5dc4b6dd1fbecffcf82db1f278226c
https://doi.org/10.1101/2020.07.26.217661
https://doi.org/10.1101/2020.07.26.217661
Autor:
Riccardo Ronzoni, Nina Heyer-Chauhan, Elena Miranda, David A. Lomas, James A. Irving, Mattia Laffranchi, Annamaria Fra, Juan Pérez, Emma L. K. Elliston, Mark L. Brantly, Alistair M. Jagger
Publikováno v:
'JCI Insight ', vol: 5, pages: 135459-1-135459-15 (2020)
JCI Insight
JCI Insight
The α-1-antitrypsin (or alpha-1-antitrypsin, A1AT) Z variant is the primary cause of severe A1AT deficiency and forms polymeric chains that aggregate in the endoplasmic reticulum of hepatocytes. Around 2%–5% of Europeans are heterozygous for the Z
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b198a68a95ec42c2c4efdadf8c63b187
http://hdl.handle.net/11379/532194
http://hdl.handle.net/11379/532194
Autor:
Anna M Fra, Bibek Gooptu, Ilaria Ferrarotti, Elena Miranda, Roberta Scabini, Riccardo Ronzoni, Federica Benini, Luciano Corda, Daniela Medicina, Maurizio Luisetti, Luisa Schiaffonati
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38405 (2012)
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema. The most common genetic AAT variants found in patients are the mildly deficient S and the severely def
Externí odkaz:
https://doaj.org/article/cdb7c4cbebbd4c359f73e619f1fda184