ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Polyisoprenoids – Secondary metabolites or physiologically important superlipids?

(2011) Liliana Surmacz et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Dystroglycanopathies: coming into focus

(2011) Caroline Godfrey et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

(2011) Nigel F Clarke et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Enzymes of the mevalonate pathway of isoprenoid biosynthesis

(2010) Henry M. Miziorko   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Improving the efficiency of genomic loci capture using oligonucleotide arrays for high throughput resequencing

(2010) Hane Lee et al.   BMC GENOMICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies

(2010) M. Lommel et al.   NEUROLOGY

O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding

(2010) T. Yoshida-Moriguchi et al.   SCIENCE

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Loss of α-Dystroglycan Laminin Binding in Epithelium-derived Cancers Is Caused by Silencing ofLARGE

(2009) Daniel Beltrán-Valero de Bernabé et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenotypic and Genetic Analysis of a Large Family With Migraine-Associated Vertigo

(2008) Hane Lee et al.   HEADACHE

Contribution of the Mevalonate and Methylerythritol Phosphate Pathways to the Biosynthesis of Dolichols in Plants

(2008) Karolina Skorupinska-Tudek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Brain and Eye Malformations Resembling Walker-Warburg Syndrome Are Recapitulated in Mice by Dystroglycan Deletion in the Epiblast

(2008) J. S. Satz et al.   JOURNAL OF NEUROSCIENCE