Gaucher Disease: Transcriptome Analyses Using Microarray or mRNA Sequencing in a Gba1 Mutant Mouse Model Treated with Velaglucerase alfa or Imiglucerase

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

Mitochondrial dysfunction in Parkinson's disease: molecular mechanisms and pathophysiological consequences

(2012) Nicole Exner et al.   EMBO JOURNAL

Oxidative Stress: A Pathogenic Mechanism for Niemann-Pick Type C Disease

(2012) Mary Carmen Vázquez et al.   Oxidative Medicine and Cellular Longevity

Identification of novel transcripts in annotated genomes using RNA-Seq

(2011) A. Roberts et al.   BIOINFORMATICS

The spectrin-based membrane skeleton stabilizes mouse megakaryocyte membrane systems and is essential for proplatelet and platelet formation

(2011) S. Patel-Hett et al.   BLOOD

Microarrays, deep sequencing and the true measure of the transcriptome

(2011) John H Malone et al.   BMC BIOLOGY

Global gene expression profile progression in Gaucher disease mouse models

(2011) You-Hai Xu et al.   BMC GENOMICS

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Comparing Next-Generation Sequencing and Microarray Technologies in a Toxicological Study of the Effects of Aristolochic Acid on Rat Kidneys

(2011) Zhenqiang Su et al.   CHEMICAL RESEARCH IN TOXICOLOGY

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

Transcriptional Profiling of Endocrine Cerebro-Osteodysplasia Using Microarray and Next-Generation Sequencing

(2011) Piya Lahiry et al.   PLoS One

Gfi-1B controls human erythroid and megakaryocytic differentiation by regulating TGF-  signaling at the bipotent erythro-megakaryocytic progenitor stage

(2010) V. Randrianarison-Huetz et al.   BLOOD

A comparison of massively parallel nucleotide sequencing with oligonucleotide microarrays for global transcription profiling

(2010) James R Bradford et al.   BMC GENOMICS

Next-generation sequencing and epigenome technologies: potential medical applications

(2010) Dimitrios H Roukos   Expert Review of Medical Devices

Genetics of neurodegenerative diseases: insights from high-throughput resequencing

(2010) S. Tsuji   HUMAN MOLECULAR GENETICS

Dematin, a Component of the Erythrocyte Membrane Skeleton, Is Internalized by the Malaria Parasite and Associates withPlasmodium14-3-3

(2010) Marco Lalle et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

(2010) John Marshall et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Role of the GATA-1/FOG-1/NuRD Pathway in the Expression of Human  -Like Globin Genes

(2010) A. Miccio et al.   MOLECULAR AND CELLULAR BIOLOGY

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Alternative expression analysis by RNA sequencing

(2010) Malachi Griffith et al.   NATURE METHODS

RNA sequencing: advances, challenges and opportunities

(2010) Fatih Ozsolak et al.   NATURE REVIEWS GENETICS

Comparative Therapeutic Effects of Velaglucerase Alfa and Imiglucerase in a Gaucher Disease Mouse Model

(2010) You-Hai Xu et al.   PLoS One

Differential expression analysis for sequence count data

(2010) Simon Anders et al.   GENOME BIOLOGY

DEGseq: an R package for identifying differentially expressed genes from RNA-seq data

(2009) Likun Wang et al.   BIOINFORMATICS

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

edgeR: a Bioconductor package for differential expression analysis of digital gene expression data

(2009) M. D. Robinson et al.   BIOINFORMATICS

Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis

(2009) Roland Nilsson et al.   Cell Metabolism

Mitochondrial control of autophagic lysosomal pathway in Alzheimer's disease

(2009) S.M. Cardoso et al.   EXPERIMENTAL NEUROLOGY

Characterization of gene-activated human acid- -glucosidase: Crystal structure, glycan composition, and internalization into macrophages

(2009) B. Brumshtein et al.   GLYCOBIOLOGY

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

(2009) Duane L Guernsey et al.   NATURE GENETICS

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

(2009) Da Wei Huang et al.   Nature Protocols

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

RNA-seq: An assessment of technical reproducibility and comparison with gene expression arrays

(2008) J. C. Marioni et al.   GENOME RESEARCH

Stem cell transcriptome profiling via massive-scale mRNA sequencing

(2008) Nicole Cloonan et al.   NATURE METHODS

Mapping and quantifying mammalian transcriptomes by RNA-Seq

(2008) Ali Mortazavi et al.   NATURE METHODS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH

Gaucher disease

(2007) Pascal Guggenbuhl et al.   JOINT BONE SPINE