Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis

Adapting the proteostasis capacity to sustain brain healthspan

(2021) Claudio Hetz   CELL

Mechanisms, regulation and functions of the unfolded protein response

(2020) Claudio Hetz et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

IRE1α governs cytoskeleton remodelling and cell migration through a direct interaction with filamin A

(2018) Hery Urra et al.   NATURE CELL BIOLOGY

ER Proteostasis Control of Neuronal Physiology and Synaptic Function

(2018) Gabriela Martínez et al.   TRENDS IN NEUROSCIENCES

Endoplasmic reticulum stress leads to accumulation of wild-type SOD1 aggregates associated with sporadic amyotrophic lateral sclerosis

(2018) Danilo B. Medinas et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Reticular adhesions are a distinct class of cell-matrix adhesions that mediate attachment during mitosis

(2018) John G. Lock et al.   NATURE CELL BIOLOGY

The PRIDE database and related tools and resources in 2019: improving support for quantification data

(2018) Yasset Perez-Riverol et al.   NUCLEIC ACIDS RESEARCH

Quantifying the contribution of recessive coding variation to developmental disorders

(2018) Hilary C. Martin et al.   SCIENCE

Cnn3 regulates neural tube morphogenesis and neuronal stem cell properties

(2017) Dirk Junghans et al.   FEBS Journal

ER stress and the unfolded protein response in neurodegeneration

(2017) Claudio Hetz et al.   Nature Reviews Neurology

A Comprehensive Evaluation of the Activity and Selectivity Profile of Ligands for RGD-binding Integrins

(2017) Tobias G. Kapp et al.   Scientific Reports

ALS‐linked protein disulfide isomerase variants cause motor dysfunction

(2016) Ute Woehlbier et al.   EMBO JOURNAL

Rab35 Functions in Axon Elongation Are Regulated by P53-Related Protein Kinase in a Mechanism That Involves Rab35 Protein Degradation and the Microtubule-Associated Protein 1B

(2016) D. Villarroel-Campos et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

(2016) S Riazuddin et al.   MOLECULAR PSYCHIATRY

Integrins in synapse regulation

(2016) Yun Kyung Park et al.   NATURE REVIEWS NEUROSCIENCE

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

(2016) Maxim V. Kuleshov et al.   NUCLEIC ACIDS RESEARCH

Small molecule proteostasis regulators that reprogram the ER to reduce extracellular protein aggregation

(2016) Lars Plate et al.   eLife

Unconventional secretory processing diversifies neuronal ion channel properties

(2016) Cyril Hanus et al.   eLife

Neurological Aspects of Human Glycosylation Disorders

(2015) Hudson H. Freeze et al.   Annual Review of Neuroscience

The Role of Endoplasmic Reticulum Stress in Human Pathology

(2015) Scott A. Oakes et al.   Annual Review of Pathology-Mechanisms of Disease

Identification of rare protein disulfide isomerase gene variants in amyotrophic lateral sclerosis patients

(2015) Paloma Gonzalez-Perez et al.   GENE

The Protein-disulfide Isomerase ERp57 Regulates the Steady-state Levels of the Prion Protein

(2015) Mauricio Torres et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Regional research priorities in brain and nervous system disorders

(2015) Vijayalakshmi Ravindranath et al.   NATURE

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Methylphenidate amplifies long-term potentiation in rat hippocampus CA1 area involving the insertion of AMPA receptors by activation of β-adrenergic and D1/D5 receptors

(2015) C. Rozas et al.   NEUROPHARMACOLOGY

C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

(2015) J. Chew et al.   SCIENCE

Characterizing the Altered Cellular Proteome Induced by the Stress-Independent Activation of Heat Shock Factor 1

(2014) Lisa M. Ryno et al.   ACS Chemical Biology

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool

(2013) Edward Y Chen et al.   BMC BIOINFORMATICS

Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study

(2013) Eamonn Sheridan et al.   LANCET

TMBIM3/GRINA is a novel unfolded protein response (UPR) target gene that controls apoptosis through the modulation of ER calcium homeostasis

(2012) D Rojas-Rivera et al.   CELL DEATH AND DIFFERENTIATION

Major histocompatibility complex class I proteins in brain development and plasticity

(2012) Bradford M. Elmer et al.   TRENDS IN NEUROSCIENCES

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Acutely applied MDMA enhances long-term potentiation in rat hippocampus involving D1/D5 and 5-HT2 receptors through a polysynaptic mechanism

(2011) C. Rozas et al.   EUROPEAN NEUROPSYCHOPHARMACOLOGY

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Planar cell polarity signalling regulates cell adhesion properties in progenitors of the zebrafish laterality organ

(2010) P. Oteiza et al.   DEVELOPMENT

High AAV vector purity results in serotype- and tissue-independent enhancement of transduction efficiency

(2009) E Ayuso et al.   GENE THERAPY

Insights into MHC Class I Peptide Loading from the Structure of the Tapasin-ERp57 Thiol Oxidoreductase Heterodimer

(2009) Gang Dong et al.   IMMUNITY

SAP97 and CASK mediate sorting of NMDA receptors through a previously unknown secretory pathway

(2009) Okunola Jeyifous et al.   NATURE NEUROSCIENCE

MHC Class I: An Unexpected Role in Neuronal Plasticity

(2009) Carla J. Shatz   NEURON

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Substrate Specificity of the Oxidoreductase ERp57 Is Determined Primarily by Its Interaction with Calnexin and Calreticulin

(2008) Catherine E. Jessop et al.   JOURNAL OF BIOLOGICAL CHEMISTRY