Zobrazeno 1 - 10
of 40
pro vyhledávání: '"Martina Pigoni"'
Autor:
Bruna Paulsen, Silvia Velasco, Amanda J. Kedaigle, Martina Pigoni, Giorgia Quadrato, Anthony J. Deo, Xian Adiconis, Ana Uzquiano, Rafaela Sartore, Sung Min Yang, Sean K. Simmons, Panagiotis Symvoulidis, Kwanho Kim, Kalliopi Tsafou, Archana Podury, Catherine Abbate, Ashley Tucewicz, Samantha N. Smith, Alexandre Albanese, Lindy Barrett, Neville E. Sanjana, Xi Shi, Kwanghun Chung, Kasper Lage, Edward S. Boyden, Aviv Regev, Joshua Z. Levin, Paola Arlotta
Publikováno v:
Nature. 602:268-273
Genetic risk for autism spectrum disorder (ASD) is associated with hundreds of genes spanning a wide range of biological functions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd53e57f536ce5e648278370de37b1d
https://doi.org/10.1038/s41586-021-04358-6
https://doi.org/10.1038/s41586-021-04358-6
Autor:
Mirsada Causevic, Kristina Dominko, Martina Malnar, Lea Vidatic, Stjepko Cermak, Martina Pigoni, Peer-Hendrik Kuhn, Alessio Colombo, Daniel Havas, Stefanie Flunkert, Jessica McDonald, Jenny M Gunnersen, Birgit Hutter-Paier, Sabina Tahirovic, Manfred Windisch, Dimitri Krainc, Stefan F Lichtenthaler, Silva Hecimovic
Publikováno v:
PLoS ONE, Vol 13, Iss 7, p e0200344 (2018)
It is intriguing that a rare, inherited lysosomal storage disorder Niemann-Pick type C (NPC) shares similarities with Alzheimer's disease (AD). We have previously reported an enhanced processing of β-amyloid precursor protein (APP) by β-secretase (
Externí odkaz:
https://doaj.org/article/1789a778f74f4473b3cee534b11a03e1
Autor:
Martina Pigoni, Ana Uzquiano, Bruna Paulsen, Amanda Kedaigle, Sung Min Yang, Panagiotis Symvoulidis, Xian Adiconis, Silvia Velasco, Rafaela Sartore, Kwanho Kim, Ashley Tucewicz, Kalliopi Tsafou, Xin Jin, Lindy Barrett, Fei Chen, Ed Boyden, Aviv Regev, Joshua Z. Levin, Paola Arlotta
De novoheterozygous loss-of-function mutations inPTENare strongly associated with Autism spectrum disorders (ASD); however, it is unclear how heterozygous mutations in this gene affects different cell types during human brain development, and how the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f0ee470a25841a9324dc4983abd14711
https://doi.org/10.1101/2022.11.15.516664
https://doi.org/10.1101/2022.11.15.516664
Autor:
Insoo Hyun, J. C. Scharf-Deering, Sarah Sullivan, John Dennis Aach, Paola Arlotta, Matthew L. Baum, George M. Church, Aaron Goldenberg, Henry T. Greely, Parastoo Khoshakhlagh, Richie E. Kohman, Melissa Lopes, Caroline Lowenthal, Aric Lu, Alex H. M. Ng, Sergiu P. Pasca, Bruna Paulsen, Martina Pigoni, Christopher T. Scott, David A. Silbersweig, Mark A. Skylar-Scott, Robert D. Truog, Jeantine E. Lunshof
Publikováno v:
Nature neuroscience. 25(11)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0e67dda2b4581f76d55ceacc32c37e1
https://pubmed.ncbi.nlm.nih.gov/36258039
https://pubmed.ncbi.nlm.nih.gov/36258039
Autor:
Ana Uzquiano, Amanda J. Kedaigle, Martina Pigoni, Bruna Paulsen, Xian Adiconis, Kwanho Kim, Tyler Faits, Surya Nagaraja, Noelia Antón-Bolaños, Chiara Gerhardinger, Ashley Tucewicz, Evan Murray, Xin Jin, Jason Buenrostro, Fei Chen, Silvia Velasco, Aviv Regev, Joshua Z. Levin, Paola Arlotta
Realizing the full utility of brain organoids as experimental systems to study human cortical development requires understanding whether organoids replicate the cellular and molecular events of this complex process precisely, reproducibly, and with f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b05221f5be4c8356051a37014a0f136d
https://doi.org/10.1101/2022.03.17.484798
https://doi.org/10.1101/2022.03.17.484798
Autor:
Ana Uzquiano, Amanda J. Kedaigle, Martina Pigoni, Bruna Paulsen, Xian Adiconis, Kwanho Kim, Tyler Faits, Surya Nagaraja, Noelia Antón-Bolaños, Chiara Gerhardinger, Ashley Tucewicz, Evan Murray, Xin Jin, Jason Buenrostro, Fei Chen, Silvia Velasco, Aviv Regev, Joshua Z. Levin, Paola Arlotta
Publikováno v:
Cell. 185:3770-3788.e27
Realizing the full utility of brain organoids to study human development requires understanding whether organoids precisely replicate endogenous cellular and molecular events, particularly since acquisition of cell identity in organoids can be impair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab72a5eb25f151edae483321cce01486
https://doi.org/10.1016/j.cell.2022.09.010
https://doi.org/10.1016/j.cell.2022.09.010
Autor:
Hiroshi Takeshima, Jenny M. Gunnersen, Martina Pigoni, Stefan F. Lichtenthaler, Tim D. Aumann, Kathryn M. Munro, Amelia Nash
Publikováno v:
Cerebral cortex 30(4), 2167-2184 (2019). doi:10.1093/cercor/bhz230
Seizure-related gene 6 (Sez6), Sez6-Like (Sez6L), and Sez6-Like 2 (Sez6L2) comprise a family of homologous proteins widely expressed throughout the brain that have been linked to neurodevelopmental and psychiatric disorders. Here, we use Sez6 triple
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f98c8c55ac4b13c04924db59f031ea9f
https://doi.org/10.1093/cercor/bhz230
https://doi.org/10.1093/cercor/bhz230
Autor:
Emma Ong-Pålsson, Jasenka Rudan Njavro, Yvette Wilson, Martina Pigoni, Andree Schmidt, Stephan A. Müller, Michael Meyer, Jana Hartmann, Marc Aurel Busche, Jenny M. Gunnersen, Kathryn M. Munro, Stefan F. Lichtenthaler
Publikováno v:
Molecular neurobiology 59(2), 1183-1198 (2022). doi:10.1007/s12035-021-02660-y
The membrane protein seizure 6–like (SEZ6L) is a neuronal substrate of the Alzheimer’s disease protease BACE1, and little is known about its physiological function in the nervous system. Here, we show that SEZ6L constitutive knockout mice display
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa386019a5cc6178d4c136884ad54daf
https://mediatum.ub.tum.de/1704966
https://mediatum.ub.tum.de/1704966
Autor:
Ashley Tucewicz, Anthony Deo, Sean Simmons, Kwanho Kim, Kasper Lage, Giorgia Quadrato, Paola Arlotta, Xian Adiconis, Samantha Smith, Martina Pigoni, Bruna Paulsen, Kwanghun Chung, Aviv Regev, Kalliopi Tsafou, Joshua Z. Levin, Catherine Abbate, Alex Albanese, Silvia Velasco, Rafaela C. Sartore, Amanda J. Kedaigle, Ana Uzquiano
Genetic risk for autism spectrum disorder (ASD) has been associated with hundreds of genes spanning a wide range of biological functions. The phenotypic alterations in the human brain resulting from mutations in ASD risk genes remain unclear, and the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8e491090536d8832a3365b8e531ba8b4
https://doi.org/10.1101/2020.11.10.376509
https://doi.org/10.1101/2020.11.10.376509
Autor:
Peer-Hendrik Kuhn, Manfred Wuhrer, Gerhard Rammes, Marc Aurel Busche, Hung-En Hsia, Rohit Kumar, Jana Hartmann, Birgit Blank, Mai Ly Tran, Jenny M. Gunnersen, Pan Gao, Gökhan Güner, Johanna Tüshaus, Julia von Blume, Martina Pigoni, Stephan A. Müller, Bulat Ramazanov, Merav D. Shmueli, Stefan F. Lichtenthaler, Agnes L. Hipgrave Ederveen, Thomas Koeglsperger, Jasenka Rudan Njavro, Christophe Mulle
Publikováno v:
EMBO JOURNAL
The EMBO Journal
The EMBO journal 39(15), e103457 (2020). doi:10.15252/embj.2019103457
EMBO Journal, 39(15). WILEY
The EMBO Journal
The EMBO journal 39(15), e103457 (2020). doi:10.15252/embj.2019103457
EMBO Journal, 39(15). WILEY
Seizure protein 6 (SEZ6) is required for the development and maintenance of the nervous system, is a major substrate of the protease BACE1 and is linked to Alzheimer's disease (AD) and psychiatric disorders, but its molecular functions are not well u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c62ca4e3ff9a616aac1956d7bb9bc35
https://hdl.handle.net/21.11116/0000-0006-BA20-421.11116/0000-0006-BA1E-8
https://hdl.handle.net/21.11116/0000-0006-BA20-421.11116/0000-0006-BA1E-8