L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms
about
Functional inactivation of the genome-wide association study obesity gene neuronal growth regulator 1 in mice causes a body mass phenotypeFull-length L1CAM and not its Δ2Δ27 splice variant promotes metastasis through induction of gelatinase expressionDifferential effects of human L1CAM mutations on complementing guidance and synaptic defects in Drosophila melanogasterL1CAM and its cell-surface mutants: new mechanisms and effects relevant to the physiology and pathology of neural cellsAccumulation of wildtype and ALS-linked mutated VAPB impairs activity of the proteasome.Cerebrospinal fluid levels of amyloid precursor protein are associated with ventricular size in post-hemorrhagic hydrocephalus of prematurity.Dileucine and PDZ-binding motifs mediate synaptic adhesion-like molecule 1 (SALM1) trafficking in hippocampal neuronsMitogen-activated protein kinase modulates ethanol inhibition of cell adhesion mediated by the L1 neural cell adhesion moleculeConditional deletion of L1CAM in human neurons impairs both axonal and dendritic arborization and action potential generation.Neural cell adhesion molecule L1 modulates type I but not type II inner ear spiral ganglion neurite outgrowth in an in vitro alternate choice assayPlasticity Related Gene 3 (PRG3) overcomes myelin-associated growth inhibition and promotes functional recovery after spinal cord injury.Role of L1CAM for axon sprouting and branching.Pathomechanistic characterization of two exonic L1CAM variants located in trans in an obligate carrier of X-linked hydrocephalus.Human L1CAM carrying the missense mutations of the fibronectin-like type III domains is localized in the endoplasmic reticulum and degraded by polyubiquitylation.L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.Lumbar Cerebrospinal Fluid Biomarkers of Posthemorrhagic Hydrocephalus of Prematurity: Amyloid Precursor Protein, Soluble Amyloid Precursor Protein α, and L1 Cell Adhesion Molecule.Temporally precise single-cell-resolution optogenetics.
P2860
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P2860
L1 syndrome mutations impair neuronal L1 function at different levels by divergent mechanisms
description
2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2010
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im Oktober 2010 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
wetenschappelijk artikel (gepubliceerd op 2010/10/01)
@nl
наукова стаття, опублікована в жовтні 2010
@uk
مقالة علمية (نشرت في أكتوبر 2010)
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name
L1 syndrome mutations impair n ...... levels by divergent mechanisms
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L1 syndrome mutations impair n ...... levels by divergent mechanisms
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type
label
L1 syndrome mutations impair n ...... levels by divergent mechanisms
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L1 syndrome mutations impair n ...... levels by divergent mechanisms
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prefLabel
L1 syndrome mutations impair n ...... levels by divergent mechanisms
@ast
L1 syndrome mutations impair n ...... levels by divergent mechanisms
@en
P2093
P3181
P1476
L1 syndrome mutations impair n ...... levels by divergent mechanisms
@en
P2093
Anice Moumen
Cedric Raoul
Elisabeth Bouché
Fritz G. Rathjen
Hans H. Bock
Laura Keglowich
Mercedes Küffner
Michael Frotscher
Michael K. E. Schäfer
Yun-Chung Nam
P304
P3181
P356
10.1016/J.NBD.2010.05.029
P577
2010-10-01T00:00:00Z