TLDc proteins: new players in the oxidative stress response and neurological disease

Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutation

(2017) Francesca Ragona et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Antioxidants in Central Nervous System Diseases: Preclinical Promise and Translational Challenges

(2017) Chandrashekhar D. Kamat et al.   JOURNAL OF ALZHEIMERS DISEASE

Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment

(2017) Xiaowei Sylvia Chen et al.   Scientific Reports

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

(2016) Reymundo Lozano et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The membrane strikes back: phosphoinositide binding regulates Skywalker function

(2016) Steven J Del Signore et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

TBC1D24genotype–phenotype correlation

(2016) Simona Balestrini et al.   NEUROLOGY

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function

(2016) Flavia Valtorta et al.   TRENDS IN NEUROSCIENCES

The membrane strikes back: phosphoinositide binding regulates Skywalker function

(2016) Steven J Del Signore et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

(2016) Baptiste Fischer et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

MALDI imaging reveals NCOA7 as a potential biomarker in oral squamous cell carcinoma arising from oral submucous fibrosis

(2016) Xiaoyan Xie et al.   Oncotarget

Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse

(2016) Erica Tagliatti et al.   eLife

EAK proteins: novel conserved regulators of C. elegans lifespan

(2016) Travis W. Williams et al.   Aging-US

Neuron-specific antioxidant OXR1 extends survival of a mouse model of amyotrophic lateral sclerosis

(2015) Kevin X. Liu et al.   BRAIN

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

(2015) Anne-Lise Poulat et al.   EPILEPSY RESEARCH

Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations

(2015) Barbara Gnidovec Stražišar et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Oxr1 improves pathogenic cellular features of ALS-associated FUS and TDP-43 mutations

(2015) M. J. Finelli et al.   HUMAN MOLECULAR GENETICS

The Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative Stress

(2015) Mattéa J. Finelli et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Induction of a Unique Isoform of theNCOA7Oxidation Resistance Gene by Interferon β-1b

(2015) Lijian Yu et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

A Novel HomozygousTBC1D24Mutation Causing Multifocal Myoclonus With Cerebellar Involvement

(2015) Diane Doummar et al.   MOVEMENT DISORDERS

A Cellular Perspective on Brain Energy Metabolism and Functional Imaging

(2015) Pierre J. Magistretti et al.   NEURON

Activation of endogenous antioxidants as a common therapeutic strategy against cancer, neurodegeneration and cardiovascular diseases: A lesson learnt from DJ-1

(2015) Julie Y.H. Chan et al.   PHARMACOLOGY & THERAPEUTICS

Sorting of Clathrin-Independent Cargo Proteins Depends on Rab35 Delivered by Clathrin-Mediated Endocytosis

(2015) Dipannita Dutta et al.   TRAFFIC

Transcriptional profiling of macrophages derived from monocytes and iPS cells identifies a conserved response to LPS and novel alternative transcription

(2015) Kaur Alasoo et al.   Scientific Reports

Mapping the H+ (V)-ATPase interactome: identification of proteins involved in trafficking, folding, assembly and phosphorylation

(2015) Maria Merkulova et al.   Scientific Reports

Transcriptome analysis of human OXR1 depleted cells reveals its role in regulating the p53 signaling pathway

(2015) Mingyi Yang et al.   Scientific Reports

The Role of Oxidative Stress in Neurodegenerative Diseases

(2015) Geon Ha Kim et al.   Experimental Neurobiology

Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

(2014) Atteeq U. Rehman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome

(2014) Philippe M. Campeau et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Mutant p53 in Cancer: New Functions and Therapeutic Opportunities

(2014) Patricia A.J. Muller et al.   CANCER CELL

Human OXR1 maintains mitochondrial DNA integrity and counteracts hydrogen peroxide-induced oxidative stress by regulating antioxidant pathways involving p21

(2014) Mingyi Yang et al.   FREE RADICAL BIOLOGY AND MEDICINE

Oxidation resistance 1 is essential for protection against oxidative stress and participates in the regulation of aging inCaenorhabditis elegans

(2014) Y. Sanada et al.   FREE RADICAL RESEARCH

TBC1D24Mutation Causes Autosomal-Dominant Nonsyndromic Hearing Loss

(2014) Hela Azaiez et al.   HUMAN MUTATION

A Dominant Mutation in the Stereocilia-Expressing GeneTBC1D24is a Probable Cause for Nonsyndromic Hearing Impairment

(2014) Luping Zhang et al.   HUMAN MUTATION

Cloning of cDNA encoding a Bombyx mori homolog of human oxidation resistance 1 (OXR1) protein from diapause eggs, and analyses of its expression and function

(2014) Noriko Kobayashi et al.   JOURNAL OF INSECT PHYSIOLOGY

Oxidative Stress in Alzheimer’s Disease: Why Did Antioxidant Therapy Fail?

(2014) Torbjörn Persson et al.   Oxidative Medicine and Cellular Longevity

Oxidative Stresses and Mitochondrial Dysfunction in Age-Related Hearing Loss

(2014) Chisato Fujimoto et al.   Oxidative Medicine and Cellular Longevity

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

(2014) Antonio Falace et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel Compound Heterozygous Mutations inTBC1D24Cause Familial Malignant Migrating Partial Seizures of Infancy

(2013) Mathieu Milh et al.   HUMAN MUTATION

Inflammation in neurodegenerative diseases - an update

(2013) Sandra Amor et al.   IMMUNOLOGY

TBC1D24truncating mutation resulting in severe neurodegeneration

(2013) Ayse Guven et al.   JOURNAL OF MEDICAL GENETICS

Nuclear Receptor Coactivators: Regulators of Steroid Action in Brain and Behaviour

(2013) M. J. Tetel et al.   JOURNAL OF NEUROENDOCRINOLOGY

The genetic basis of DOORS syndrome: an exome-sequencing study

(2013) Philippe M Campeau et al.   LANCET NEUROLOGY

Protein N-Myristoylation Plays a Critical Role in the Endoplasmic Reticulum Morphological Change Induced by Overexpression of Protein Lunapark, an Integral Membrane Protein of the Endoplasmic Reticulum

(2013) Koko Moriya et al.   PLoS One

Novel immune genes associated with excessive inflammatory and antiviral responses to rhinovirus in COPD

(2013) Katherine J Baines et al.   RESPIRATORY RESEARCH

The Function of Steroid Receptor Coactivator-1 in Normal Tissues and Cancer

(2012) Claire A. Walsh et al.   International Journal of Biological Sciences

Oxidant Stress and Signal Transduction in the Nervous System with the PI 3-K, Akt, and mTOR Cascade

(2012) Kenneth Maiese et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Drosophila Protein Mustard Tailors the Innate Immune Response Activated by the Immune Deficiency Pathway

(2012) Z. Wang et al.   JOURNAL OF IMMUNOLOGY

Oxidative Stress and Epilepsy: Literature Review

(2012) Carlos Clayton Torres Aguiar et al.   Oxidative Medicine and Cellular Longevity

Interferon-beta-1b-induced short- and long-term signatures of treatment activity in multiple sclerosis

(2012) E Croze et al.   PHARMACOGENOMICS JOURNAL

Crystal structure of the TLDc domain of oxidation resistance protein 2 from zebrafish

(2012) Mickaël Blaise et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Epilepsy as a Neurodevelopmental Disorder

(2012) Yuri Bozzi et al.   Frontiers in Psychiatry

Loss of Skywalker Reveals Synaptic Endosomes as Sorting Stations for Synaptic Vesicle Proteins

(2011) Valerie Uytterhoeven et al.   CELL

The eIF2 kinase PERK and the integrated stress response facilitate activation of ATF6 during endoplasmic reticulum stress

(2011) Brian F. Teske et al.   MOLECULAR BIOLOGY OF THE CELL

Oxidative Stress in Neurodegenerative Diseases: Mechanisms and Therapeutic Perspectives

(2011) Ailton Melo et al.   Oxidative Medicine and Cellular Longevity

Oxr1 Is Essential for Protection against Oxidative Stress-Induced Neurodegeneration

(2011) Peter L. Oliver et al.   PLoS Genetics

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

(2010) Mark A. Corbett et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

(2010) Antonio Falace et al.   AMERICAN JOURNAL OF HUMAN GENETICS

EAK-7 Controls Development and Life Span by Regulating Nuclear DAF-16/FoxO Activity

(2010) Hena Alam et al.   Cell Metabolism

Interaction of Estrogen Receptor Associated Protein (ERAP) 140 with ER β Decreases but its Expression Increases in Aging Mouse Cerebral Cortex

(2010) Vijay Paramanik et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Mitochondrial matters of the brain: mitochondrial dysfunction and oxidative status in epilepsy

(2010) Sue -Joan Chang et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Differential interferon signaling in liver lobule and portal area cells under treatment for chronic hepatitis C

(2010) Masao Honda et al.   JOURNAL OF HEPATOLOGY

Identification of Nuclear Phosphatidylinositol 4,5-Bisphosphate-Interacting Proteins by Neomycin Extraction

(2010) Aurélia E. Lewis et al.   MOLECULAR & CELLULAR PROTEOMICS

Global Characterization of Transcriptional Impact of the SRC-3 Coregulator

(2010) Rainer B. Lanz et al.   MOLECULAR ENDOCRINOLOGY

The Anopheles gambiae Oxidation Resistance 1 (OXR1) Gene Regulates Expression of Enzymes That Detoxify Reactive Oxygen Species

(2010) Giovanna Jaramillo-Gutierrez et al.   PLoS One

Mitochondria: A therapeutic target in neurodegeneration

(2009) Paula I. Moreira et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mosquito immune responses and compatibility between Plasmodium parasites and anopheline mosquitoes

(2009) Giovanna Jaramillo-Gutierrez et al.   BMC MICROBIOLOGY

Androgen Modulation of Coregulator Expression in Prostate Cancer Cells

(2009) Hannelore V. Heemers et al.   MOLECULAR ENDOCRINOLOGY

Tweek, an Evolutionarily Conserved Protein, Is Required for Synaptic Vesicle Recycling

(2009) Patrik Verstreken et al.   NEURON

Interferon-β Signaling Is Enhanced in Patients With Insufficient Coronary Collateral Artery Development and Inhibits Arteriogenesis in Mice

(2008) Stephan H. Schirmer et al.   CIRCULATION RESEARCH

Gene Expression Profiling Reveals Similarities between the In vitro and In vivo Responses of Immune Effector Cells to IFN- 

(2008) J. M. Zimmerer et al.   CLINICAL CANCER RESEARCH

Use of a Drosophila Model to Identify Genes Regulating Plasmodium Growth in the Mosquito

(2008) Stephanie M. Brandt et al.   GENETICS

The Primate-specific Protein TBC1D3 Is Required for Optimal Macropinocytosis in a Novel ARF6-dependent Pathway

(2008) Emanuela Frittoli et al.   MOLECULAR BIOLOGY OF THE CELL