Functional Characterization and Rescue of a Deep Intronic Mutation inOCRLGene Responsible for Lowe Syndrome-Reference-Cited by-同舟云学术

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Functional Characterization and Rescue of a Deep Intronic Mutation inOCRLGene Responsible for Lowe Syndrome

Published:2016-11-21 Issue:2 Volume:38 Page:152-159
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rendu John¹²³,Montjean Rodrick⁴⁵,Coutton Charles⁶,Suri Mohnish⁷,Chicanne Gaetan⁸⁹,Petiot Anne¹²,Brocard Julie¹²,Grunwald Didier¹²,Pietri Rouxel France¹⁰¹¹,Payrastre Bernard⁸⁹,Lunardi Joel¹²³,Dorseuil Olivier⁴⁵,Marty Isabelle¹²,Fauré Julien¹²³

Affiliation:

1. Cellular Myology and Pathology; INSERM, U1216; Grenoble France

2. Grenoble Institut of Neurosciences; Université Grenoble Alpes; France

3. Biochimie Génétique et Moléculaire; CHU Grenoble Alpes; France

4. Institut Cochin; INSERM U1016; Paris France

5. CNRS UMR8104; Université Paris Descartes; Paris France

6. Laboratoire de Génétique Chromosomique; CHU Grenoble Alpes; France

7. Nottingham Clinical Genetics Service; Nottingham University Hospitals NHS Trust; Nottingham United Kingdom

8. I2MC; INSERM U1048; Toulouse France

9. Laboratoire d'Hématologie; CHU de Toulouse; France

10. Research Center of Myology; INSERM UMRS974; Paris France

11. CNRS FRE3617; UPMC; Paris France

Funder

Association du Syndrome de Lowe

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference50 articles.

1. Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients;Aartsma-Rus;Hum Mol Genet,2003

2. The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase;Attree;Nature,1992

3. X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice;Bernard;Mamm Genome,2010

4. Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome;Bothwell;Mamm Genome,2010

5. Deep-intronic ATM mutation detected by genomic resequencing and corrected in vitro by antisense morpholino oligonucleotide (AMO);Cavalieri;Eur J Hum Genet,2012

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