Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.
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Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma.The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice.A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretionGenetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration.Evidence of Alternative Cystatin C Signal Sequence Cleavage Which Is Influenced by the A25T Polymorphism.Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins.A local complement response by RPE causes early-stage macular degeneration.Translational attenuation differentially alters the fate of disease-associated fibulin proteinsOn the design of broad based screening assays to identify potential pharmacological chaperones of protein misfolding diseasesMouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration.A Novel Luciferase Assay For Sensitively Monitoring Myocilin Variants in Cell Culture.Mapping wild-type and R345W fibulin-3 intracellular interactomes.Conditional, Genetically Encoded, Small Molecule-Regulated Inhibition of NFκB Signaling in RPE Cells.Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway.
P2860
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P2860
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@ast
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@en
type
label
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@ast
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@en
prefLabel
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@ast
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@en
P2093
P2860
P356
P1476
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@en
P2093
John D Hulleman
Shalesh Kaushal
William E Balch
P2860
P304
P356
10.1091/MBC.E11-08-0695
P577
2011-10-26T00:00:00Z