Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome-Reference-Cited by-同舟云学术

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

Published:2020-10-31 Issue:4 Volume:9 Page:222-228
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Perdomo-Ramirez Ana¹,Antón-Gamero Montserrat²,Sakaguchi Rizzo Daniela³,Trindade Amelia⁴,Ramos-Trujillo Elena¹,Claverie-Martin Felix¹

Affiliation:

1. Unidad de Investigación, Hospital Universitario Nuestra Señora de Candelaria, Santa Cruz de Tenerife, Spain.

2. Nefrología Pediátrica, Hospital Universitario Reina Sofía, Córdoba, Spain.

3. Medical Center, Sao Carlos, Sao Paulo, Brazil.

4. Departamento de Medicina, Universidade Federal de Sao Carlos, Sao Paulo, Brazil.

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/9/4/9_2020.03092/_pdf

Reference34 articles.

1. 1. Bökenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatr Nephrol. 2016; 31:2201-2212.

2. 2. De Matteis MA, Staiano L, Emma F, Devuyst O. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. Nat Rev Nephrol. 2017; 13:455-470.

3. 3. Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M. Renal phenotype in Lowe syndrome: a selective proximal tubular dysfunction. Clin J Am Soc Nephrol. 2008; 3:1430-1436.

4. 4. Attree O, Olivos IM, Okabe I, Bailey LC, Nelson DL, Lewis RA, McInnes RR, Nussbaum RL. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase. Nature. 1992; 358:239-242.

5. 5. Olivos-Glander IM, Jänne PA, Nussbaum RL. The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex. Am J Hum Genet. 1995; 57:817-823.

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