TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
about
Molecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve TerminalsMolecular Pathways Underlying Projection Neuron Production and Migration during Cerebral Cortical DevelopmentAdvancing epilepsy genetics in the genomic eraRegulation of small GTPases by GEFs, GAPs, and GDIsOxr1 is essential for protection against oxidative stress-induced neurodegenerationTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.Crystal structure of the TLDc domain of oxidation resistance protein 2 from zebrafishSkywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic functionUnderstanding Genotypes and Phenotypes in Epileptic EncephalopathiesRecessive TBC1D24 Mutations Are Frequent in Moroccan Non-Syndromic Hearing Loss PedigreesTBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathwayThe Evolutionarily Conserved Tre2/Bub2/Cdc16 (TBC), Lysin Motif (LysM), Domain Catalytic (TLDc) Domain Is Neuroprotective against Oxidative StressSLC25A22 is a novel gene for migrating partial seizures in infancy.Epilepsy genetics--past, present, and futureTBC proteins: GAPs for mammalian small GTPase Rab?Single point mutation in Rabenosyn-5 in a female with intractable seizures and evidence of defective endocytotic traffickingThe genetic basis of DOORS syndrome: an exome-sequencing studyTBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Reduced synaptic vesicle protein degradation at lysosomes curbs TBC1D24/sky-induced neurodegeneration.Discovery of single nucleotide polymorphisms in candidate genes associated with fertility and production traits in Holstein cattle.ARF family G proteins and their regulators: roles in membrane transport, development and disease.Connecdenn 3/DENND1C binds actin linking Rab35 activation to the actin cytoskeleton.A targeted resequencing gene panel for focal epilepsy.Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.Emerging major synaptic signaling pathways involved in intellectual disability.Epilepsy: old syndromes, new genes.DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing.Dysregulated expression of lipid storage and membrane dynamics factors in Tia1 knockout mouse nervous tissue.Arf6 regulates the cycling and the readily releasable pool of synaptic vesicles at hippocampal synapse.Rab, Arf, and Arl-Regulated Membrane Traffic in Cortical Neuron Migration.Invited review: Small GTPases and their GAPs.Unresolved questions regarding human hereditary deafness.The antioxidant protein Oxr1 influences aspects of mitochondrial morphologySilencing of TBC1D15 promotes RhoA activation and membrane blebbing.Coordination of synaptic vesicle trafficking and turnover by the Rab35 signaling network.TLDc proteins: new players in the oxidative stress response and neurological disease.Genetic and epigenetic mechanisms of epilepsy: a review.Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
P2860
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P2860
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
description
2010 nî lūn-bûn
@nan
2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@ast
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en-gb
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@nl
type
label
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@ast
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en-gb
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@nl
prefLabel
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@ast
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en-gb
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@nl
P2093
P2860
P50
P921
P3181
P1476
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy
@en
P2093
Antonio Falace
Carlo Minetti
Fabia Filipello
Fabio Benfenati
Franca Dagna Bricarelli
Francesca Madia
Nicola Vanni
Veronica La Padula
P2860
P304
P3181
P356
10.1016/J.AJHG.2010.07.020
P407
P5008
P577
2010-09-10T00:00:00Z