Lowe syndrome: mechanism & therapeutic opportunities
1: Identification of novel cellular phenotypes in LS
Coon BG, Mukherjee D, Hanna CB, Riese DJ, Lowe M, Aguilar RC (2009). Lowe syndrome patient fibroblasts display Ocrl1-specific migration defects that cannot be rescued by the homologous Inpp5b phosphate. Hum Mol Genet 18(23):4478-91.
Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC (2012). The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum Mol Genet. 2012 Apr 15;21(8):1835-47
Hsieh W-C, Ramadesikan S, Fekete D, Aguilar RC (2018). Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show Ciliogenesis defects and Six2 retention at the Golgi complex. PLoS One. 2018 Feb 14;13(2):e0192635.
Coon BG, Mukherjee D, Hanna CB, Riese DJ, Lowe M, Aguilar RC (2009). Lowe syndrome patient fibroblasts display Ocrl1-specific migration defects that cannot be rescued by the homologous Inpp5b phosphate. Hum Mol Genet 18(23):4478-91.
Coon BG, Hernandez V, Madhivanan K, Mukherjee D, Hanna CB, Barinaga-Rementeria Ramirez I, Lowe M, Beales PL, Aguilar RC (2012). The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Hum Mol Genet. 2012 Apr 15;21(8):1835-47
Hsieh W-C, Ramadesikan S, Fekete D, Aguilar RC (2018). Kidney-differentiated cells derived from Lowe Syndrome patient’s iPSCs show Ciliogenesis defects and Six2 retention at the Golgi complex. PLoS One. 2018 Feb 14;13(2):e0192635.
