Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Helen, Legakis"'
Autor:
Luis A. Williams, David J. Gerber, Amy Elder, Wei Chou Tseng, Valeriya Baru, Nathaniel Delaney-Busch, Christina Ambrosi, Gauri Mahimkar, Vaibhav Joshi, Himali Shah, Karthiayani Harikrishnan, Hansini Upadhyay, Sakthi H. Rajendran, Aishwarya Dhandapani, Joshua Meier, Steven J. Ryan, Caitlin Lewarch, Lauren Black, Julie Douville, Stefania Cinquino, Helen Legakis, Karsten Nalbach, Christian Behrends, Ai Sato, Lorenzo Galluzzi, Timothy W. Yu, Duncan Brown, Sudhir Agrawal, David Margulies, Alan Kopin, Graham T. Dempsey
Publikováno v:
Molecular Therapy: Nucleic Acids, Vol 29, Iss , Pp 189-203 (2022)
Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder characterized by intellectual disability, impaired speech, motor delay, and hypotonia evolving to spasticity, central sleep apnea, and premature death (SPG49 or HSAN9;
Externí odkaz:
https://doaj.org/article/555fd4156baf47509e8e7211947eb238
Autor:
Luis A, Williams, David J, Gerber, Amy, Elder, Wei Chou, Tseng, Valeriya, Baru, Nathaniel, Delaney-Busch, Christina, Ambrosi, Gauri, Mahimkar, Vaibhav, Joshi, Himali, Shah, Karthiayani, Harikrishnan, Hansini, Upadhyay, Sakthi H, Rajendran, Aishwarya, Dhandapani, Joshua, Meier, Steven J, Ryan, Caitlin, Lewarch, Lauren, Black, Julie, Douville, Stefania, Cinquino, Helen, Legakis, Karsten, Nalbach, Christian, Behrends, Ai, Sato, Lorenzo, Galluzzi, Timothy W, Yu, Duncan, Brown, Sudhir, Agrawal, David, Margulies, Alan, Kopin, Graham T, Dempsey
Publikováno v:
Molecular therapy. Nucleic acids. 29
Mutations in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0f46faf63abd1f4135c97b4442e9dca4
https://pubmed.ncbi.nlm.nih.gov/35860385
https://pubmed.ncbi.nlm.nih.gov/35860385
Publikováno v:
Journal of Lipid Research, Vol 47, Iss 3, Pp 643-652 (2006)
Acylation stimulating protein (ASP; C3adesArg) stimulates triglyceride synthesis (TGS) and glucose transport in preadipocytes/adipocytes through C5L2, a G-protein-coupled receptor. Here, ASP signaling is compared with insulin in 3T3-L1 cells. ASP sti
Externí odkaz:
https://doaj.org/article/c7596060203f4d5fb00afbb99ec20a1c
Autor:
Sandra Carriero, Helen Legakis
Publikováno v:
Handbook of Analysis of Oligonucleotides and Related Products ISBN: 9780429136665
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ff5cf33402cdc1c11f4a89448bc59dab
https://doi.org/10.1201/b10714-9
https://doi.org/10.1201/b10714-9
Publikováno v:
Journal of Lipid Research, Vol 47, Iss 3, Pp 643-652 (2006)
Acylation stimulating protein (ASP; C3adesArg) stimulates triglyceride synthesis (TGS) and glucose transport in preadipocytes/adipocytes through C5L2, a G-protein-coupled receptor. Here, ASP signaling is compared with insulin in 3T3-L1 cells. ASP sti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e2e8677be2c93edb9418fe582250092
https://pubmed.ncbi.nlm.nih.gov/16333141
https://pubmed.ncbi.nlm.nih.gov/16333141
Autor:
Barry Shane, Angela Hosack, William Kim, John Hilton, Thomas J. Hudson, Caroline Kim, Hye-Yeon Hwang, David Watkins, Noah S. Philip, Aaron Wilson, Roy A. Gravel, David S. Rosenblatt, Helen Legakis, Carole Doré, Angus Murray, Ming Ru, Timothy Wai, Bing Ge
Mutations in the MTR gene, which encodes methionine synthase on human chromosome 1p43, result in the methylcobalamin deficiency G (cblG) disorder, which is characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. To investigate t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ad500333d685ab262d0356cf8528ab2
https://europepmc.org/articles/PMC384971/
https://europepmc.org/articles/PMC384971/