Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline-Reference-Cited by-同舟云学术

Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Published:2015-10 Issue:5 Volume:29 Page:323-329
ISSN:0890-8508
Container-title:Molecular and Cellular Probes
language:en
Short-container-title:Molecular and Cellular Probes

Author:

Granzow M.,Paramasivam N.^ORCID,Hinderhofer K.,Fischer C.,Chotewutmontri S.,Kaufmann L.,Evers C.,Kotzaeridou U.,Rohrschneider K.,Schlesner M.,Sturm M.,Pinkert S.,Eils R.,Bartram C.R.,Bauer P.,Moog U.

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology

Reference32 articles.

1. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N. Engl. J. Med.,2013

2. Guidelines for investigating causality of sequence variants in human disease;MacArthur;Nature,2014

3. Null mutation in PGAP1 impairing GPI-anchor maturation in patients with intellectual disability and encephalopathy;Murakami;PLoS Genet.,2014

4. GPI-anchor remodeling: potential functions of GPI-anchors in intracellular trafficking and membrane dynamics;Fujita;Biochim. Biophys. Acta,2012

5. Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome;Horn;Eur. J. Hum. Genet.,2014

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Molecular basis of the inositol deacylase PGAP1 involved in quality control of GPI-AP biogenesis;Nature Communications;2024-01-02

2. Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project);Endocrine;2023-11-08

3. Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review;Frontiers in Neurology;2022-01-04

4. Clinically Responsive Genomic Analysis Pipelines;The Journal of Molecular Diagnostics;2021-07

5. Diseases Associated With GPI Anchors;Comprehensive Glycoscience;2021