Zobrazeno 1 - 10
of 67
pro vyhledávání: '"Hilaire C. Lam"'
Autor:
Krinio Giannikou, Katie R. Martin, Ahmad G. Abdel-Azim, Kaila J. Pamir, Thomas R. Hougard, Shefali Bagwe, Yan Tang, Jeffrey P. MacKeigan, David J. Kwiatkowski, Elizabeth P. Henske, Hilaire C. Lam
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Tuberous Sclerosis Complex (TSC) is caused by loss of function variants in either TSC1 or TSC2 and is characterized by broad phenotypic heterogeneity. Currently, there is limited knowledge regarding the role of the mitochondrial genome (mtDNA) in TSC
Externí odkaz:
https://doaj.org/article/7a16e35977df4b36bf8e5045581ebf3c
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:
Hyunwook Lee, Qinqin Fei, Adam Streicher, Wenjuan Zhang, Colleen Isabelle, Pragi Patel, Hilaire C. Lam, Antonio Arciniegas-Rubio, Miguel Pinilla-Vera, Diana P. Amador-Munoz, Diana Barragan-Bradford, Angelica Higuera-Moreno, Rachel K. Putman, Lynette M. Sholl, Elizabeth P. Henske, Christopher M. Bobba, Natalia Higuita-Castro, Emily M. Shalosky, R. Duncan Hite, John W. Christman, Samir N. Ghadiali, Rebecca M. Baron, Joshua A. Englert
Publikováno v:
JCI Insight, Vol 6, Iss 14 (2021)
The acute respiratory distress syndrome (ARDS) is a highly lethal condition that impairs lung function and causes respiratory failure. Mechanical ventilation (MV) maintains gas exchange in patients with ARDS but exposes lung cells to physical forces
Externí odkaz:
https://doaj.org/article/046048147d16480695cff473141c80c1
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:
Elizabeth P. Henske, Carmen Priolo, Mustafa Sahin, Jorge Moscat, Maria T. Diaz-Meco, William M. Oldham, John M. Asara, Stephen Y. Chan, Adam Handen, Taylor Kavanagh, Julie Nijmeh, Barbara Ogorek, Damir Khabibullin, Ana Pereira, Jane J. Yu, Afshin Saffari, Darius Ebrahimi-Fakhari, Izabela A. Malinowska, Nicola Alesi, Heng-Jia Liu, Andrey A. Parkhitko, Alicia Llorente Lope, Christian V. Baglini, Hilaire C. Lam
Metabolites significantly changed by p62 knockdown in Tsc2-/- MEFs
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5611620e4979620632754b9e0189a015
https://doi.org/10.1158/0008-5472.22412799.v1
https://doi.org/10.1158/0008-5472.22412799.v1
Autor:
Elizabeth P. Henske, Carmen Priolo, Mustafa Sahin, Jorge Moscat, Maria T. Diaz-Meco, William M. Oldham, John M. Asara, Stephen Y. Chan, Adam Handen, Taylor Kavanagh, Julie Nijmeh, Barbara Ogorek, Damir Khabibullin, Ana Pereira, Jane J. Yu, Afshin Saffari, Darius Ebrahimi-Fakhari, Izabela A. Malinowska, Nicola Alesi, Heng-Jia Liu, Andrey A. Parkhitko, Alicia Llorente Lope, Christian V. Baglini, Hilaire C. Lam
p62/sequestosome-1 (SQSTM1) is a multifunctional adaptor protein and autophagic substrate that accumulates in cells with hyperactive mTORC1, such as kidney cells with mutations in the tumor suppressor genes tuberous sclerosis complex (TSC)1 or TSC2.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3698401ba3a8978b2c7460b27e65cca2
https://doi.org/10.1158/0008-5472.c.6508524.v1
https://doi.org/10.1158/0008-5472.c.6508524.v1
Autor:
Elizabeth P. Henske, Carmen Priolo, Mustafa Sahin, Jorge Moscat, Maria T. Diaz-Meco, William M. Oldham, John M. Asara, Stephen Y. Chan, Adam Handen, Taylor Kavanagh, Julie Nijmeh, Barbara Ogorek, Damir Khabibullin, Ana Pereira, Jane J. Yu, Afshin Saffari, Darius Ebrahimi-Fakhari, Izabela A. Malinowska, Nicola Alesi, Heng-Jia Liu, Andrey A. Parkhitko, Alicia Llorente Lope, Christian V. Baglini, Hilaire C. Lam
Sod2 overexpression reduces the percentage of MitoSOX positive cells assessed by flow cytometry
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::005f02f4f84c781e8ed9d6872a44ac41
https://doi.org/10.1158/0008-5472.22412817.v1
https://doi.org/10.1158/0008-5472.22412817.v1