Zobrazeno 1 - 3
of 3
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