Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Harilaos Filippakis"'
Autor:
Nicola Alesi, Damir Khabibullin, Dean M. Rosenthal, Elie W. Akl, Pieter M. Cory, Michel Alchoueiry, Samer Salem, Melissa Daou, William F. Gibbons, Jennifer A. Chen, Long Zhang, Harilaos Filippakis, Laura Graciotti, Caterina Miceli, Jlenia Monfregola, Claudia Vilardo, Manrico Morroni, Chiara Di Malta, Gennaro Napolitano, Andrea Ballabio, Elizabeth P. Henske
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract Tuberous Sclerosis Complex (TSC) is caused by TSC1 or TSC2 mutations, leading to hyperactivation of mechanistic target of rapamycin complex 1 (mTORC1) and lesions in multiple organs including lung (lymphangioleiomyomatosis) and kidney (angio
Externí odkaz:
https://doaj.org/article/84551f68541142aa9d79d29bb32f55a5
Autor:
Thayse R. Brüggemann, Troy Carlo, Nandini Krishnamoorthy, Melody G. Duvall, Raja-Elie E. Abdulnour, Julie Nijmeh, Hong Yong Peh, Harilaos Filippakis, Roxanne H. Croze, Byoungsook Goh, Sungwhan F. Oh, Bruce D. Levy
Publikováno v:
iScience, Vol 25, Iss 10, Pp 105185- (2022)
Summary: Lipid phosphate phosphatases are a family of enzymes with diverse cellular metabolic functions. Phospholipid phosphatase 6 (PLPP6) is a regulator of cellular polyisoprenyl phosphates; however, its in vivo functions remain to be determined. H
Externí odkaz:
https://doaj.org/article/dba573f5d9f9430aac6578dbdef405d5
Autor:
Nicola Alesi, Elie W. Akl, Damir Khabibullin, Heng-Jia Liu, Anna S. Nidhiry, Emma R. Garner, Harilaos Filippakis, Hilaire C. Lam, Wei Shi, Srinivas R. Viswanathan, Manrico Morroni, Shawn M. Ferguson, Elizabeth P. Henske
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
Tuberous sclerosis complex (TSC) is a multiorgan disease that can lead to hyperactive mTORC1 due to deficient TSC1 or TSC2 protein function. Here, the authors find that despite high mTORC1 activity, TFEB localizes to the nucleus and drives lysosomal
Externí odkaz:
https://doaj.org/article/ec225f1e3e484d6c80c74d6195d73b5c
Autor:
Carmen Herranz, Francesca Mateo, Alexandra Baiges, Gorka Ruiz de Garibay, Alexandra Junza, Simon R Johnson, Suzanne Miller, Nadia García, Jordi Capellades, Antonio Gómez, August Vidal, Luis Palomero, Roderic Espín, Ana I Extremera, Eline Blommaert, Eva Revilla‐López, Berta Saez, Susana Gómez‐Ollés, Julio Ancochea, Claudia Valenzuela, Tamara Alonso, Piedad Ussetti, Rosalía Laporta, Antoni Xaubet, José A Rodríguez‐Portal, Ana Montes‐Worboys, Carlos Machahua, Jaume Bordas, Javier A Menendez, Josep M Cruzado, Roser Guiteras, Christophe Bontoux, Concettina La Motta, Aleix Noguera‐Castells, Mario Mancino, Enrique Lastra, Raúl Rigo‐Bonnin, Jose C Perales, Francesc Viñals, Alvaro Lahiguera, Xiaohu Zhang, Daniel Cuadras, Coline H M vanMoorsel, Joanne J van derVis, Marian J R Quanjel, Harilaos Filippakis, Razq Hakem, Chiara Gorrini, Marc Ferrer, Aslihan Ugun‐Klusek, Ellen Billett, Elżbieta Radzikowska, Álvaro Casanova, María Molina‐Molina, Antonio Roman, Oscar Yanes, Miquel A Pujana
Publikováno v:
EMBO Molecular Medicine, Vol 13, Iss 9, Pp n/a-n/a (2021)
Abstract Inhibition of mTOR is the standard of care for lymphangioleiomyomatosis (LAM). However, this therapy has variable tolerability and some patients show progressive decline of lung function despite treatment. LAM diagnosis and monitoring can al
Externí odkaz:
https://doaj.org/article/51f572bcdff644bcab3c3cc538fd0d47
Autor:
Harilaos Filippakis, Amine Belaid, Brian Siroky, Constance Wu, Nicola Alesi, Thomas Hougard, Julie Nijmeh, Hilaire C. Lam, Elizabeth P. Henske
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-10 (2018)
Abstract Tuberous Sclerosis Complex (TSC), a rare genetic disorder with mechanistic target of rapamycin complex 1 (mTORC1) hyperactivation, is characterized by multi-organ hamartomatous benign tumors including brain, skin, kidney, and lung (Lymphangi
Externí odkaz:
https://doaj.org/article/65c5fa2a638943b98987048fb33e5747
Autor:
Elizabeth P. Henske, Paul J. Anderson, Nancy L. Kedersha, Jane Yu, Hilaire C. Lam, Michal Turkiewicz, Damir Khabibullin, Harilaos Filippakis, Kosmas Kosmas
G3BP, vigilin and TSC2 colocalize in stress granules.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c439c58b408b58544d00b2719ae3fa6
https://doi.org/10.1158/1541-7786.22526108
https://doi.org/10.1158/1541-7786.22526108
Autor:
Elizabeth P. Henske, Paul J. Anderson, Nancy L. Kedersha, Jane Yu, Hilaire C. Lam, Michal Turkiewicz, Damir Khabibullin, Harilaos Filippakis, Kosmas Kosmas
Selected list of putative interacting TSC2 partners identified by yeast 2-hybrid analysis.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa80fccc8b3db4ad5cad1daee90e016c
https://doi.org/10.1158/1541-7786.22526102.v1
https://doi.org/10.1158/1541-7786.22526102.v1
Autor:
Elizabeth P. Henske, Paul J. Anderson, Nancy L. Kedersha, Jane Yu, Hilaire C. Lam, Michal Turkiewicz, Damir Khabibullin, Harilaos Filippakis, Kosmas Kosmas
Tuberous sclerosis complex (TSC) is caused by mutations of either the TSC1 or TSC2 tumor suppressor gene. TSC causes tumors of the brain, heart, kidney, skin and lymphangioleiomyomatosis (LAM). Here we report that the TSC2 protein physically binds to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::528fa1eccb83be7aaa812e10972c32be
https://doi.org/10.1158/1541-7786.c.6545012.v1
https://doi.org/10.1158/1541-7786.c.6545012.v1
Autor:
Harilaos Filippakis, Elizabeth P. Henske, David J. Kwiatkowski, Hilaire C. Lam, John M. Asara, Vera P. Krymskaya, Ryan W. Rue, Thomas R. Hougard, Clemens K. Probst, Krinio Giannikou, Elie W. Akl, Ji Wang, Long Zhang, Kosmas Kosmas, Andres Sanin, Andrii Kovalenko
Ritanserin inhibits macropinocytosis and acidic organelle homeostasis in TSC2-deficient cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36af52716bb9eb402f53d1754350cb6e
https://doi.org/10.1158/0008-5472.22429966
https://doi.org/10.1158/0008-5472.22429966
Autor:
Harilaos Filippakis, Elizabeth P. Henske, David J. Kwiatkowski, Hilaire C. Lam, John M. Asara, Vera P. Krymskaya, Ryan W. Rue, Thomas R. Hougard, Clemens K. Probst, Krinio Giannikou, Elie W. Akl, Ji Wang, Long Zhang, Kosmas Kosmas, Andres Sanin, Andrii Kovalenko
Lymphangioleiomyomatosis is a rare destructive lung disease affecting primarily women and is the primary lung manifestation of tuberous sclerosis complex (TSC). In lymphangioleiomyomatosis, biallelic loss of TSC1/2 leads to hyperactivation of mTORC1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f47a4d38177a3d07b6326e649fcc300
https://doi.org/10.1158/0008-5472.c.6513499
https://doi.org/10.1158/0008-5472.c.6513499