TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

The phenotypic landscape of a Tbc1d24 mutant mouse includes convulsive seizures resembling human early infantile epileptic encephalopathy

(2019) Risa Tona et al.   HUMAN MOLECULAR GENETICS

Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons

(2018) Pierluigi Valente et al.   CEREBRAL CORTEX

Phenotypes, genotypes, and the management of paroxysmal movement disorders

(2018) Laura Silveira-Moriyama et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua

(2018) Qilin Zhou et al.   Frontiers in Neurology

Vitamin E Inhibits Oxidative Stress-Induced Denaturation of Nerve Terminal Proteins Involved in Neurotransmission

(2018) Nozomi Kaneai et al.   JOURNAL OF ALZHEIMERS DISEASE

Novel TBC1D24 Mutations in a Case of Nonconvulsive Status Epilepticus

(2018) Jingjing Li et al.   Frontiers in Neurology

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

(2018) Mattéa J Finelli et al.   HUMAN MOLECULAR GENETICS

Autophagy in the presynaptic compartment in health and disease

(2017) Vinoy Vijayan et al.   JOURNAL OF CELL BIOLOGY

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

(2017) Mattéa J. Finelli et al.   MAMMALIAN GENOME

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

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

(2016) Xiaoming Liu et al.   HUMAN MUTATION

Shawn, the Drosophila Homolog of SLC25A39/40, Is a Mitochondrial Carrier That Promotes Neuronal Survival

(2016) J. R. Slabbaert et al.   JOURNAL OF NEUROSCIENCE

Activity-Dependent Degradation of Synaptic Vesicle Proteins Requires Rab35 and the ESCRT Pathway

(2016) Patricia Sheehan et al.   JOURNAL OF NEUROSCIENCE

Synaptic vesicle pool-specific modification of neurotransmitter release by intravesicular free radical generation

(2016) Olusoji A. T. Afuwape et al.   JOURNAL OF PHYSIOLOGY-LONDON

A spectral approach integrating functional genomic annotations for coding and noncoding variants

(2016) Iuliana Ionita-Laza et al.   NATURE GENETICS

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

(2016) Karthik A Jagadeesh et al.   NATURE GENETICS

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

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

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

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

Reduced synaptic vesicle protein degradation at lysosomes curbsTBC1D24/sky-induced neurodegeneration

(2014) Ana Clara Fernandes et al.   JOURNAL OF CELL BIOLOGY

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

(2014) Mikko Muona et al.   NATURE GENETICS

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

Illuminating the functional and structural repertoire of human TBC/RABGAPs

(2012) Marieke A. M. Frasa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

(2012) C. Marini et al.   NEUROLOGY

Oxidative Stress and Epilepsy: Literature Review

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

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

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

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

(2011) Valerie Uytterhoeven et al.   CELL

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

XDS

(2010) Wolfgang Kabsch   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

Features and development ofCoot

(2010) P. Emsley et al.   ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY

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

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

Glucose transporters in the 21st Century

(2009) Bernard Thorens et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Fast and accurate predictions of protein stability changes upon mutations using statistical potentials and neural networks: PoPMuSiC-2.0

(2009) Yves Dehouck et al.   BIOINFORMATICS

Multiple Pathways Differentially Regulate Global Oxidative Stress Responses in Fission Yeast

(2007) Dongrong Chen et al.   MOLECULAR BIOLOGY OF THE CELL