Cell lines from kidney proximal tubules of a patient with lowe syndrome lack ocrl inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate*

HIGHLIGHTS

• who: Xiaoling Zhang from the Lowe syndrome, or oculocerebrorenal syndrome, is a rare X chromosome-linked disorder that is characterized by severe mental retardation, congenital cataracts, and renal Fanconi syndrome (1)The renal Fanconi syndrome develops in the neonatal period with impaired renal proximal tubular function including acidosis, amino aciduria, phosphaturia, and proteinuria (1, ). The gene responsible for Lowe syndrome was identified by positional cloning of X chromosome breakpoints in two affected females (3). The predicted protein, designated OCRL [1] * The costs of publication of this Article were defrayed in part by the payment of page charges . . .
  

   

  

  If you want to have access to all the content you need to log in!

  Thanks :)

  Username or Email

  Password

  Remember me

  Lost your password?

  If you don't have an account, you can create one here.