Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.

Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.

Item
http://www.wikidata.org/entity/Q35612252
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

Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration.

Item
http://www.wikidata.org/entity/Q35612252
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
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Compromised mutant EFEMP1 secr ...... oteostasis network alteration.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932