Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
about
Endoplasmic reticulum protein quality control is determined by cooperative interactions between Hsp/c70 protein and the CHIP E3 ligaseUnderstanding Idiopathic Interstitial Pneumonia: A Gene-Based Review of Stressed LungsSurfactant phospholipid metabolismGenetic disorders of surfactant dysfunctionPulmonary surfactant pathophysiology: current models and open questionsAnalysis of the Proteolytic Processing of ABCA3: Identification of Cleavage Site and Involved ProteasesGenetic risk factors associated with respiratory distress syndromeSynonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome.Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population.Diseases of pulmonary surfactant homeostasis.Genotype-phenotype correlations for infants and children with ABCA3 deficiencyABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells.Respiratory failure in a term infant with cis and trans mutations in ABCA3Role of Hsc70 binding cycle in CFTR folding and endoplasmic reticulum-associated degradation.Surfactant dysfunction.Genetic Basis of Children's Interstitial Lung Disease.Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children.Lost after translation: insights from pulmonary surfactant for understanding the role of alveolar epithelial dysfunction and cellular quality control in fibrotic lung disease.Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.Update in pediatric lung disease 2006.Regulation of surfactant secretion in alveolar type II cells.Increased risk of interstitial lung disease in children with a single R288K variant of ABCA3.Population and disease-based prevalence of the common mutations associated with surfactant deficiencyDisruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3.ABC proteins protect the human body and maintain optimal health.Interstitial lung disease in infants: new classification system, imaging technique, clinical presentation and imaging findings.Variable clinical outcome of ABCA3 deficiency in two siblings.Neonatal Respiratory Failure with Retarded Perinatal Lung Maturation in Mice Caused by Reticulocalbin 3 Disruption.Tools to explore ABCA3 mutations causing interstitial lung disease.The biology of the ABCA3 lipid transporter in lung health and disease.Some ABCA3 mutations elevate ER stress and initiate apoptosis of lung epithelial cells.The surfactant lipid transporter ABCA3 is N-terminally cleaved inside LAMP3-positive vesicles.Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease.Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome.Spectral phasor analysis of LAURDAN fluorescence in live A549 lung cells to study the hydration and time evolution of intracellular lamellar body-like structures.Identification and characterization of a novel ABCA3 mutation.Defective ABCA3 does not transport PC; PG from ER membrane to lamellar body_R-HSA-5688399New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.Respiratory failure in a term newborn due to compound heterozygous ABCA3 mutation: the case report of another lethal variant.
P2860
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P2860
Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency.
description
2006 nî lūn-bûn
@nan
2006 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Characterization and classific ...... n fatal surfactant deficiency.
@ast
Characterization and classific ...... n fatal surfactant deficiency.
@en
Characterization and classific ...... n fatal surfactant deficiency.
@nl
type
label
Characterization and classific ...... n fatal surfactant deficiency.
@ast
Characterization and classific ...... n fatal surfactant deficiency.
@en
Characterization and classific ...... n fatal surfactant deficiency.
@nl
prefLabel
Characterization and classific ...... n fatal surfactant deficiency.
@ast
Characterization and classific ...... n fatal surfactant deficiency.
@en
Characterization and classific ...... n fatal surfactant deficiency.
@nl
P2860
P356
P1476
Characterization and classific ...... in fatal surfactant deficiency
@en
P2093
Nobuhiro Ban
Yoshihiro Matsumura
P2860
P304
34503-34514
P356
10.1074/JBC.M600071200
P407
P577
2006-09-07T00:00:00Z