The epg5 knockout zebrafish line: a model to study Vici syndrome

Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype

(2018) Megan A. Waldrop et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome

(2018) Shino Shimada et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

(2017) Ikumi Hori et al.   Scientific Reports

Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa

(2016) Guangyan Miao et al.   Autophagy

Aberrant splicing induced by the most commonEPG5mutation in an individual with Vici syndrome

(2016) Megan S. Kane et al.   BRAIN

Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis

(2016) Qun Lu et al.   Cell Host & Microbe

Identification, visualization and clonal analysis of intestinal stem cells in fish

(2016) Narges Aghaallaei et al.   DEVELOPMENT

The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes

(2016) Zheng Wang et al.   MOLECULAR CELL

Vici syndrome: a review

(2016) Susan Byrne et al.   Orphanet Journal of Rare Diseases

Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Defective autophagy through epg5 mutation results in failure to reduce germ plasm and mitochondria

(2015) Amaury Herpin et al.   FASEB JOURNAL

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice

(2015) Z-H Song et al.   Cell Death & Disease

First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon ofEPG5and review of the literature

(2014) Nadja Ehmke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Atg7 is required for acrosome biogenesis during spermatogenesis in mice

(2014) Hongna Wang et al.   CELL RESEARCH

Efficient Mutagenesis by Cas9 Protein-Mediated Oligonucleotide Insertion and Large-Scale Assessment of Single-Guide RNAs

(2014) James A. Gagnon et al.   PLoS One

Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense

(2014) K. G. Lassen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hydrodynamic starvation in first-feeding larval fishes

(2014) V. China et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Primary Intestinal and Vertebral Chordomas in Laboratory Zebrafish (Danio rerio)

(2014) T. K. Cooper et al.   VETERINARY PATHOLOGY

Role ofEpg5in selective neurodegeneration and Vici syndrome

(2013) Yan G. Zhao et al.   Autophagy

A zebrafish model of chordoma initiated by notochord-driven expression of HRASV12

(2013) A. Burger et al.   Disease Models & Mechanisms

Mice deficient inEpg5exhibit selective neuronal vulnerability to degeneration

(2013) Hongyu Zhao et al.   JOURNAL OF CELL BIOLOGY

Notochord vacuoles are lysosome-related organelles that function in axis and spine morphogenesis

(2013) Kathryn Ellis et al.   JOURNAL OF CELL BIOLOGY

Ensembl 2014

(2013) Paul Flicek et al.   NUCLEIC ACIDS RESEARCH

Intestinal Epithelium and Autophagy: Partners in Gut Homeostasis

(2013) Sarron Randall-Demllo et al.   Frontiers in Immunology

Retinoic acid suppresses intestinal mucus production and exacerbates experimental enterocolitis

(2012) S. H. Oehlers et al.   Disease Models & Mechanisms

Cellular and molecular mechanisms of muscle atrophy

(2012) P. Bonaldo et al.   Disease Models & Mechanisms

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

(2012) Thomas Cullup et al.   NATURE GENETICS

Zebrafish Agr2 Is Required for Terminal Differentiation of Intestinal Goblet Cells

(2012) Yi-Chung Chen et al.   PLoS One

Regular Care and Maintenance of a Zebrafish (Danio rerio) Laboratory: An Introduction

(2012) Avdesh Avdesh et al.   Jove-Journal of Visualized Experiments

Generation of Rab-based transgenic lines for in vivo studies of endosome biology in zebrafish

(2011) Brian S. Clark et al.   DEVELOPMENTAL DYNAMICS

Four metazoan autophagy genes regulate cargo recognition, autophagosome formation and autolysosomal degradation

(2010) Ye Tian et al.   Autophagy

C. elegans Screen Identifies Autophagy Genes Specific to Multicellular Organisms

(2010) Ye Tian et al.   CELL

Laminins, via heparan sulfate proteoglycans, participate in zebrafish myotome morphogenesis by modulating the pattern of Bmp responsiveness

(2010) M. Dolez et al.   DEVELOPMENT

Epithelial cell proliferation in the developing zebrafish intestine is regulated by the Wnt pathway and microbial signaling via Myd88

(2010) S. E. Cheesman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The protein disulfide isomerase AGR2 is essential for production of intestinal mucus

(2009) S.-W. Park et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

The Role of Autophagy in Mammalian Development: Cell Makeover Rather than Cell Death

(2008) Francesco Cecconi et al.   DEVELOPMENTAL CELL

High-resolution in situ hybridization to whole-mount zebrafish embryos

(2007) Christine Thisse et al.   Nature Protocols