Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked human genetic disorder characterized by mental retardation, congenital cataracts, and renal tubular dysfunction. The Lowe syndrome gene, OCRL1, encodes a phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi complex. The pathoge...

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Autores principales: Jänne, P A, Suchy, S F, Bernard, D, MacDonald, M, Crawley, J, Grinberg, A, Wynshaw-Boris, A, Westphal, H, Nussbaum, R L
Formato: Artigo
Lenguaje:Inglês
Publicado: 1998
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC508792/
https://ncbi.nlm.nih.gov/pubmed/9593760
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