Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Ruben Claudio Aguilar"'
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
Externí odkaz:
https://doaj.org/article/f062f3e6283543279a3b5a5e430b1865
Autor:
Jennifer J. Lee, Swetha Ramadesikan, Adrianna F. Black, Charles Christoffer, Andres F. Pacheco Pacheco, Sneha Subramanian, Claudia B. Hanna, Gillian Barth, Cynthia V. Stauffacher, Daisuke Kihara, Ruben Claudio Aguilar
Publikováno v:
Biomolecules, Vol 13, Iss 4, p 615 (2023)
Lowe Syndrome (LS) is a condition due to mutations in the OCRL1 gene, characterized by congenital cataracts, intellectual disability, and kidney malfunction. Unfortunately, patients succumb to renal failure after adolescence. This study is centered i
Externí odkaz:
https://doaj.org/article/f73ecfff1eae43f69d7628ffdc0d6114
Publikováno v:
PLoS ONE, Vol 13, Iss 2, p e0192635 (2018)
Lowe syndrome is an X-linked condition characterized by congenital cataracts, neurological abnormalities and kidney malfunction. This lethal disease is caused by mutations in the OCRL1 gene, which encodes for the phosphatidylinositol 5-phosphatase Oc
Externí odkaz:
https://doaj.org/article/e673d7551c0247f19c8fade5abcfcf97
Autor:
Lee, Jennifer J.1,2 (AUTHOR) lee3100@purdue.edu, Ramadesikan, Swetha1,2 (AUTHOR) black173@purdue.edu, Black, Adrianna F.1,2 (AUTHOR) apachecop@unal.edu.co, Christoffer, Charles3 (AUTHOR) christ35@purdue.edu, Pacheco, Andres F. Pacheco1,2 (AUTHOR) subram64@purdue.edu, Subramanian, Sneha1,2 (AUTHOR) clauh1@purdue.edu, Hanna, Claudia B.1,2 (AUTHOR) barthg@purdue.edu, Barth, Gillian1,2 (AUTHOR) cstauffa@purdue.edu, Stauffacher, Cynthia V.1,2 (AUTHOR) dkihara@purdue.edu, Kihara, Daisuke1,2,3 (AUTHOR), Aguilar, Ruben Claudio1,2 (AUTHOR) claudio@purdue.edu
Publikováno v:
Biomolecules (2218-273X). Apr2023, Vol. 13 Issue 4, p615. 18p.
Autor:
Hsieh, Wen-Chieh1, Ramadesikan, Swetha1, Fekete, Donna1,2,3,4, Aguilar, Ruben Claudio1,2,3,4 claudio@purdue.edu
Publikováno v:
PLoS ONE. 2/14/2018, Vol. 13 Issue 2, p1-16. 16p.
Publikováno v:
PLoS ONE. Apr2015, Vol. 10 Issue 4, p1-17. 17p.
Autor:
Madhivanan, Kayalvizhi1, Aguilar, Ruben Claudio1
Publikováno v:
Traffic. Oct2014, Vol. 15 Issue 10, p1031-1056. 26p.
Autor:
Coca, Ramón1, Soler, Fernando2, Cortés-Castell, Ernesto3, Gil-Guillén, Vicente1, Fernández-Belda, Francisco2 fbelda@um.es
Publikováno v:
PLoS ONE. Jul2014, Vol. 9 Issue 7, p1-9. 9p.
Autor:
Kimpler, Lisa A.1, Glosson, Nicole L.1, Downs, Deanna1, Gonyo, Patrick1, May, Nathan A.1, Hudson, Amy W.1 ahudson@mcw.edu
Publikováno v:
PLoS ONE. Jun2014, Vol. 9 Issue 6, p1-12. 12p.
Publikováno v:
PLoS ONE. Sep2013, Vol. 8 Issue 9, p1-14. 14p.