Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Timothy Salerno"'
Autor:
Ding An, Jessica L. Schneller, Andrea Frassetto, Shi Liang, Xuling Zhu, Ji-Sun Park, Matt Theisen, Sue-Jean Hong, Jenny Zhou, Raj Rajendran, Becca Levy, Rebecca Howell, Gilles Besin, Vladimir Presnyak, Staci Sabnis, Kerry E. Murphy-Benenato, E. Sathyajith Kumarasinghe, Timothy Salerno, Cosmin Mihai, Christine M. Lukacs, Randy J. Chandler, Lin T. Guey, Charles P. Venditti, Paolo G.V. Martini
Publikováno v:
Cell Reports, Vol 21, Iss 12, Pp 3548-3558 (2017)
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although
Externí odkaz:
https://doaj.org/article/48a6dc8892224dcc94c4537810ade1f9
Autor:
Matt Theisen, Jaclyn Milton, Becca Levy, Ling Yin, Andrea Frassetto, Staci Sabnis, Vladimir Presnyak, Gilles Besin, Kerry Benenato, Timothy Salerno, Kristin E. Burke, Andy Lynn, Paolo Martini, Xuling Zhu, Patrick Finn, Christine Lukacs, Lin T. Guey, Summar Siddiqui, Jenny Zhuo, Joe Milano
Publikováno v:
The American Journal of Human Genetics. 104:625-637
Fabry disease is an X-linked lysosomal storage disease caused by loss of alpha galactosidase A (α-Gal A) activity and is characterized by progressive accumulation of globotriaosylceramide and its analogs in all cells and tissues. Although enzyme rep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd9e9f33c8aabfdd3ce162b9e814606
https://doi.org/10.1016/j.ajhg.2019.02.003
https://doi.org/10.1016/j.ajhg.2019.02.003
Autor:
Andrea Frassetto, William Butcher, Álvaro Pejenaute, Matías A. Avila, Mayur Kalariya, Kerry Benenato, Lin T. Guey, Matthew Kenney, Ana Sampedro, Eva Santamaría, Manuel Alegre, Antonio Fontanellas, E. Sathyajith Kumarasinghe, Staci Sabnis, Ji Sun Park, Kristine Burke, Christine Lukacs, Pedro Berraondo, Daniel Jericó, Paolo Martini, Timothy Salerno, Lei Jiang, Xuling Zhu
Publikováno v:
Nature Medicine. 24:1899-1909
Acute intermittent porphyria (AIP) results from haploinsufficiency of porphobilinogen deaminase (PBGD), the third enzyme in the heme biosynthesis pathway. Patients with AIP have neurovisceral attacks associated with increased hepatic heme demand. Phe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e066bc3f21b3baae184d41fc36627c7
https://doi.org/10.1038/s41591-018-0199-z
https://doi.org/10.1038/s41591-018-0199-z
Autor:
Kerry Benenato, Lei Ci, Edward Acosta, Timothy Salerno, Staci Sabnis, Yan Xia, Elisabeth Narayanan, Mark Cornebise, Jaclyn Milton, Hillary Koch
Publikováno v:
Advanced Functional Materials. 32:2106727
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f689c13a0bfc816510f99cba2c4f69d9
https://doi.org/10.1002/adfm.202106727
https://doi.org/10.1002/adfm.202106727
Autor:
Andrea Frassetto, Gilles Besin, Jordan Santana, Joshua R. Schultz, Kimberly Ann Coughlan, Timothy Salerno, Edward J. Miracco, Lin T. Guey, Cosmin Mihai, Jenny Zhuo, Marianne Eybye, Jingsong Cao, Paloma H. Giangrande, Shi Liang, Ding An, E. Sathyajith Kumarasinghe, Mikel Galduroz, Aki Funahashi, Takeyori Saheki, Tatsuhiko Furukawa, Eishi Kuroda, Staci Sabnis, Paolo Martini, Patrick Finn, Christine Lukacs, Kerry Benenato, Becca Levy
Publikováno v:
Mol Ther
Citrin deficiency is an autosomal recessive disorder caused by loss-of-function mutations in SLC25A13, encoding the liver-specific mitochondrial aspartate/glutamate transporter. It has a broad spectrum of clinical phenotypes, including life-threateni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c58b942635448d14337c7db655d937c
https://pubmed.ncbi.nlm.nih.gov/31056400
https://pubmed.ncbi.nlm.nih.gov/31056400
Autor:
Iain Mcfadyen, Kerry Benenato, Cosmin Mihai, Andy Lynn, Timothy Salerno, Matthew G. Stanton, Alex Bulychev, E. Sathyajith Kumarasinghe, Orn Almarsson, Tatiana Ketova, Joyce Chan, Staci Sabnis, Joseph J. Senn
The success of mRNA-based therapies depends on the availability of a safe and efficient delivery vehicle. Lipid nanoparticles have been identified as a viable option. However, there are concerns whether an acceptable tolerability profile for chronic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d901226f1c937f312227f83786157589
https://europepmc.org/articles/PMC5986714/
https://europepmc.org/articles/PMC5986714/
Autor:
Pedro Berraondo, Andrea Frassetto, Antonio Fontanellas, Paolo Martini, Christine Lukacs, Ellalahewage Sathyajith Kumarasinghe, Staci Sabnis, Kerry Benenato, Lei Jiang, William Butcher, Timothy Salerno, Matías A. Avila, Lin T. Guey, Ana Sampedro, Mayur Kalariya
Publikováno v:
Molecular Genetics and Metabolism. 123:S70-S71
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::56446e5d56b83b7f89fd31a094396a7a
https://doi.org/10.1016/j.ymgme.2017.12.175
https://doi.org/10.1016/j.ymgme.2017.12.175
Autor:
Gilles Besin, Vladimir Presnyak, Kerry E. Murphy-Benenato, Lin T. Guey, Timothy Salerno, Andrea Frassetto, Shi Liang, Jenny Zhou, Jessica L. Schneller, Cosmin Mihai, Christine Lukacs, Sue Jean Hong, Becca Levy, Raj Rajendran, Paolo Martini, Xuling Zhu, Ji Sun Park, E. Sathyajith Kumarasinghe, Staci Sabnis, Rebecca Howell, Randy J. Chandler, Charles P. Venditti, Ding An, Matt Theisen
Publikováno v:
Cell Reports, Vol 21, Iss 12, Pp 3548-3558 (2017)
Summary: Isolated methylmalonic acidemia/aciduria (MMA) is a devastating metabolic disorder with poor outcomes despite current medical treatments. Like other mitochondrial enzymopathies, enzyme replacement therapy (ERT) is not available, and although
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d51c4de3877540689b446b0a9a435d8
https://doi.org/10.1016/j.celrep.2018.08.049
https://doi.org/10.1016/j.celrep.2018.08.049