The Deficiency of PIP(2) 5-Phosphatase in Lowe Syndrome Affects Actin Polymerization

Por Suchy, Sharon F., Nussbaum, Robert L.
Publicado em 2002

Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.

Por Lin, T, Orrison, B M, Leahey, A M, Suchy, S F, Bernard, D J, Lewis, R A, Nussbaum, R L
Publicado em 1997

Corrigendum to “First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children” [Mol. Genet. Metab. Rep. 2 (2016) 81–84]

Por Senanayake, Danika Nadeen, Jasinge, Eresha A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry
Publicado no Mol Genet Metab Rep (2016)

First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children

Por Senanayake, Danika Nadeen, Jasinge, Eresha. A., Pindolia, Kirit, Wanigasinghe, Jithangi, Monaghan, Kristin, Suchy, Sharon F., Wei, Sainan, Jaysena, Subashini, Wolf, Barry
Publicado no Mol Genet Metab Rep (2015)

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

Por Jänne, P A, Suchy, S F, Bernard, D, MacDonald, M, Crawley, J, Grinberg, A, Wynshaw-Boris, A, Westphal, H, Nussbaum, R L
Publicado em 1998

Dent Disease with Mutations in OCRL1

Por Hoopes, Richard R., Shrimpton, Antony E., Knohl, Stephen J., Hueber, Paul, Hoppe, Bernd, Matyus, Janos, Simckes, Ari, Tasic, Velibor, Toenshoff, Burkhard, Suchy, Sharon F., Nussbaum, Robert L., Scheinman, Steven J.
Publicado em 2005

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Por Ng, Bobby G., Xu, Gege, Chandy, Nandini, Steyermark, Joan, Shinde, Deepali N., Radtke, Kelly, Raymond, Kimiyo, Lebrilla, Carlito B., AlAsmari, Ali, Suchy, Sharon F., Powis, Zöe, Faqeih, Eissa Ali, Berry, Susan A., Kronn, David F., Freeze, Hudson H.
Publicado no Am J Hum Genet (2018)