Characterization and Classification of ATP-binding Cassette Transporter ABCA3 Mutants in Fatal Surfactant Deficiency
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چکیده
منابع مشابه
Structural Features of the ATP-Binding Cassette (ABC) Transporter ABCA3
In this review we reported and discussed the structural features of the ATP-Binding Cassette (ABC) transporter ABCA3 and how the use of bioinformatics tools could help researchers to obtain a reliable structural model of this important transporter. In fact, a model of ABCA3 is still lacking and no crystallographic structures (of the transporter or of its orthologues) are available. With the adv...
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Acute lymphoblastic leukemia (ALL) is one of the most prevalent hematologic malignancies in children. Although the cure rate of ALL has improved over the past decades, the most important reason for ALL treatment failure is multidrug resistance (MDR) phenomenon. The current study aims to explain the mechanisms involved in multidrug resistance of childhood ALL, and introduces ATP-binding cassette...
متن کاملABCA3 gene mutations in newborns with fatal surfactant deficiency.
BACKGROUND Pulmonary surfactant forms a lipid-rich monolayer that coats the airways of the lung and is essential for proper inflation and function of the lung. Surfactant is produced by alveolar type II cells, stored intracellularly in organelles known as lamellar bodies, and secreted by exocytosis. The gene for ATP-binding cassette transporter A3 (ABCA3) is expressed in alveolar type II cells,...
متن کاملDisruption of N-linked glycosylation promotes proteasomal degradation of the human ATP-binding cassette transporter ABCA3.
The lipid transport protein, ABCA3, expressed in alveolar type 2 (AT2) cells, is critical for surfactant homeostasis. The first luminal loop of ABCA3 contains three putative N-linked glycosylation sites at residues 53, 124, and 140. A common cotranslational modification, N-linked glycosylation, is critical for the proper expression of glycoproteins by enhancing folding, trafficking, and stabili...
متن کاملATP-binding cassette transporter A3 (ABCA3) mutation in a late preterm with respiratory distress syndrome.
BACKGROUND Surfactant protein abnormalities are rare causes of respiratory distress syndrome. CASE CHARACTERISTICS A late preterm (36 wks) who presented with respiratory distress syndrome. OBSERVATION He was found to be a homozygous for a G to T transversion at the first base in intron 24, of ABCA3 gene which is necessary for lamellar body formation and surfactant production. OUTCOME He d...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2006
ISSN: 0021-9258
DOI: 10.1074/jbc.m600071200