Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches

Mitochondrial function requires NGLY1

(2018) Jianping Kong et al.   MITOCHONDRION

New Insights into the Physiological Role of Endoplasmic Reticulum-Associated Degradation

(2017) Ling Qi et al.   TRENDS IN CELL BIOLOGY

Lethality of mice bearing a knockout of the Ngly1-gene is partially rescued by the additional deletion of the Engase gene

(2017) Haruhiko Fujihira et al.   PLoS Genetics

The human HSP70 family of chaperones: where do we stand?

(2016) Jürgen Radons   CELL STRESS & CHAPERONES

Role of Nrf2/HO-1 system in development, oxidative stress response and diseases: an evolutionarily conserved mechanism

(2016) Agnieszka Loboda et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Neurodegeneration and the Heat Shock Protein 70 Machinery: Implications for Therapeutic Development

(2016) Sarah N. Fontaine et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

Nuclear Factor Erythroid-2 Like 1 (NFE2L1): Structure, function and regulation

(2016) Hyun Min Kim et al.   GENE

Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

(2016) Christina Lam et al.   GENETICS IN MEDICINE

Proteasome dysfunction triggers activation of SKN-1A/Nrf1 by the aspartic protease DDI-1

(2016) Nicolas J Lehrbach et al.   eLife

The aspartyl protease DDI2 activates Nrf1 to compensate for proteasome dysfunction

(2016) Shun Koizumi et al.   eLife

Hexosamine pathway and (ER) protein quality control

(2015) Martin S Denzel et al.   CURRENT OPINION IN CELL BIOLOGY

A congenital disorder of deglycosylation: Biochemical characterization ofN-glycanase 1 deficiency in patient fibroblasts

(2015) Ping He et al.   GLYCOBIOLOGY

Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation inDrosophila

(2015) Clement Y. Chow et al.   HUMAN MOLECULAR GENETICS

Endo-β-N-acetylglucosaminidase formsN-GlcNAc protein aggregates during ER-associated degradation in Ngly1-defective cells

(2015) Chengcheng Huang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Hexosamine Pathway Metabolites Enhance Protein Quality Control and Prolong Life

(2014) Martin S. Denzel et al.   CELL

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

(2014) Gregory M. Enns et al.   GENETICS IN MEDICINE

The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied and treated

(2014) Matthew Might et al.   GENETICS IN MEDICINE

The cytoplasmic peptide:N-glycanase (Ngly1)--basic science encounters a human genetic disorder

(2014) T. Suzuki   JOURNAL OF BIOCHEMISTRY

Using natural variation in Drosophila to discover previously unknown endoplasmic reticulum stress genes

(2013) C. Y. Chow et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A modified UPR stress sensing system reveals a novel tissue distribution of IRE1/XBP1 activity during normal Drosophila development

(2012) Michio Sone et al.   CELL STRESS & CHAPERONES

Clinical application of exome sequencing in undiagnosed genetic conditions

(2012) Anna C Need et al.   JOURNAL OF MEDICAL GENETICS

Transcriptional regulation of xenobiotic detoxification in Drosophila

(2011) J. R. Misra et al.   GENES & DEVELOPMENT

Defining human ERAD networks through an integrative mapping strategy

(2011) John C. Christianson et al.   NATURE CELL BIOLOGY

Heat Shock Protein 70 (Hsp70) as an Emerging Drug Target

(2010) Christopher G. Evans et al.   JOURNAL OF MEDICINAL CHEMISTRY

The N-Glycanase png-1 Acts to Limit Axon Branching during Organ Formation in Caenorhabditis elegans

(2010) N. Habibi-Babadi et al.   JOURNAL OF NEUROSCIENCE

Basic Leucine Zipper Protein Cnc-C Is a Substrate and Transcriptional Regulator of the Drosophila 26S Proteasome

(2010) K. B. Grimberg et al.   MOLECULAR AND CELLULAR BIOLOGY

Transcription Factor Nrf1 Mediates the Proteasome Recovery Pathway after Proteasome Inhibition in Mammalian Cells

(2010) Senthil K. Radhakrishnan et al.   MOLECULAR CELL

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

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Evidence for an Essential Deglycosylation-Independent Activity of PNGase in Drosophila melanogaster

(2010) Yoko Funakoshi et al.   PLoS One

Stress-Activated Cap'n'collar Transcription Factors in Aging and Human Disease

(2010) G. P. Sykiotis et al.   Science Signaling

TopHat: discovering splice junctions with RNA-Seq

(2009) Cole Trapnell et al.   BIOINFORMATICS

Suppression of retinal degeneration in Drosophila by stimulation of ER-associated degradation

(2009) M.-J. Kang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structure of the Dual Enzyme Ire1 Reveals the Basis for Catalysis and Regulation in Nonconventional RNA Splicing

(2008) Kenneth P.K. Lee et al.   CELL

Heat Shock Transcription Factor 1-activating Compounds Suppress Polyglutamine-induced Neurodegeneration through Induction of Multiple Molecular Chaperones

(2008) Nobuhiro Fujikake et al.   JOURNAL OF BIOLOGICAL CHEMISTRY