Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
about
Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability.Coordination of synaptic vesicle trafficking and turnover by the Rab35 signaling network.TLDc proteins: new players in the oxidative stress response and neurological disease.Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.The where, what, and when of membrane protein degradation in neurons.The membrane strikes back: phosphoinositide binding regulates Skywalker function.Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua.The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding
P2860
Q33806536-8DBAED03-A460-4F85-A92B-A59E41605807Q39106622-044F60DA-99C1-465E-93C7-86085B995F23Q39434317-A3E0064B-9201-439F-815A-44D2EF5623D4Q47707490-BF61C712-8DDE-450D-8306-49869E4A75B8Q47836274-07CA6ED0-A160-412F-993C-D3D89C2DB4B1Q48245372-0028CCEB-4BED-47C6-ADD5-1F5B67EE7B22Q49884782-3B0A01D5-A6B2-48F9-9AD2-C10A20A92641Q58828685-F18C80B1-B73D-4237-A570-0AD4B55D2A47
P2860
Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function
description
2016 nî lūn-bûn
@nan
2016 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
name
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@ast
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@en
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@nl
type
label
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@ast
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@en
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@nl
prefLabel
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@ast
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@en
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@nl
P2093
P2860
P50
P356
P1476
Skywalker-TBC1D24 has a lipid- ...... required for synaptic function
@en
P2093
Baptiste Fischer
Charlotte De Koninck
Jef Swerts
Jone Paesmans
Sabine Kuenen
Valerie Uytterhoeven
P2860
P2888
P356
10.1038/NSMB.3297
P577
2016-09-26T00:00:00Z
P6179
1010703974