Abca3

Structural models of the human ABCA3 gene and protein illustrating the

StructureBased Understanding of ABCA3 Variants

Overall structure of human ABCA3 in nucleotidefree state A Overall

ABCA3 Is Critical for Lamellar Body Biogenesis in Vivo Journal of

Structural Features of the ATPBinding Cassette ABC Transporter ABCA3

ABCA3 is present in membranes surrounding giant lamellar bodies in

Human Lung Confocal Imaging Donor 39503C26 Containing an ABCA3

Human Lung Confocal Imaging Donor 16171B06 Containing an ABCA3

Novel Compound Heterozygous Mutation of the ABCA3 Gene in a Patient

ABCA3 gene sequence analysis a Sequence analysis of ABCA3 G A

Structural Features of the ATPBinding Cassette ABC Transporter ABCA3

Quantifying Functional Impairment of ABCA3 Variants Associated with

Localization and molecular consequences of five functional ABCA3

Abca3 Lung Disease StructureBased Understanding of ABCA3 Variants

ABCA3 Is Critical for Lamellar Body Biogenesis in Vivo Journal of

EMC3 interacts with ABCA3 and regulates ABCA3 stability in MLE15

Schematic representation of the ABCA3 protein Nterminal Nter to

Conformational changes of ABCA3 upon ATP binding A Overall structure

Predicted topological model of the ABCA3 protein The locations of the

Lung has reduced ABCA3 expression and abnormal lamellar bodies with

Identification and characterization of a novel ABCA3 mutation

Type I and Type II ABCA3 mutations af Representative immunostaining

CryoEM structures of the human surfactant lipid transporter ABCA3 PMC

The colorcoded 3D model of ABCA3 and the localization of some of the

Electron microscopic features of ABCA3 mutations A B Type II

Predicted topological model of the ABCA3 protein The locations of the

CryoEM structures of the human surfactant lipid transporter ABCA3 PMC

Predicted membrane topology of ABCA3 and localization of the identified

Structural model of ABCA3 protein and alignment of partial amino acid

ABCA3 Homozygous Mutations

PDF Biologic Characterization of ABCA3 Variants in Lung Tissue from

Restoration of ABCA3 expression in AT2 cells after partial deletion

The colorcoded 3D model of ABCA3 and the localization of some of the

Targeted deletion of Abca3 results in neonatal lethality A Exons 4

Schematic representation of the ABCA3 and ABCA1 expression constructs

ABCA3 Polyclonal Antibody Invitrogen PA552478

ABCA3 Is Critical for Lamellar Body Biogenesis in Vivo Journal of

ABCA3 DeficiencyVariantSpecific Response to Hydroxychloroquine

ABCA3 Gene Mutations in Newborns with Fatal Surfactant Deficiency NEJM

Localization of ABCA3 to the limiting membrane of lysosomes and

The surfactant lipid transporter ABCA3 is Nterminally cleaved inside

An intronic ABCA3 mutation that is responsible for respiratory disease

Pedigree of the families with the ABCA3 mutations pR1583WpS128Rfs

Structural models of the human ABCA3 gene and protein illustrating the

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

ABCA3 mutation and pulmonary hypertension A link with alveolar

Summary of this study in pictogram ABCA3 deficiencyvariantspecific

Predicted topological model of the ABCA3 protein The locations of the

Human Lung Confocal Imaging Donor 39503C26 Containing an ABCA3

Intracellular localization of wildtype ABCA3 and of the pD253H and

Three Infants with Pathogenic Variants in the ABCA3 Gene Presentation

The translational expression of ABCA2 and ABCA3 is a strong prognostic

Deletion of Abca3 in AT2 cells causes respiratory failure A

Predicted membrane topology of ABCA3 and localization of the identified

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

PhenotypeGenotype Correlations in ABCA3 PatientsThe RespiRare Cohort

Immunostaining of ABCA3 in human fetal lung tissue ABCA3 was assessed

STAT3 regulates ABCA3 expression and influences lamellar body formation

Distribution of Abca3 mRNA in mouse tissue Abca3 mRNA was assessed by

ABCA3 as a Lipid Transporter in Pulmonary Surfactant Biogenesis

Frontiers A Newly Observed Mutation of the ABCA3 Gene Causing Lethal

Three Infants with Pathogenic Variants in the ABCA3 Gene Presentation

Dual immunolocalization of ABCA3 and SPB or proSPC in adult mouse

ABCA3 inactivation in mice causes respiratory failure loss of

Figure 2 from ABCA3 gene mutations in newborns with fatal surfactant

Functional Genomics of ABCA3 Variants PMC

StructureBased Understanding of ABCA3 Variants

Structural models of the human ABCA3 gene and protein illustrating the

StructureBased Understanding of ABCA3 Variants

PDF Quantifying Functional Impairment of ABCA3 Variants Associated

Quantifying Functional Impairment of ABCA3 Variants Associated with

Figure 5 from ABCA3 Is Critical for Lamellar Body Biogenesis in Vivo

CryoEM structures of the human surfactant lipid transporter ABCA3 PMC

Representation of structure biosynthetic processing and lifecycle of

Research Progress on the Structure and Transport Mechanism Models of

Ultrastructural and molecular analysis in fatal neonatal interstitial

Lungdiseaseassociated compound heterozygous mutations of ABCA3 Top

Characterization and Classification of ATPbinding Cassette Transporter

Known mutations in the ECD4 and carboxyterminal domains of ABCA3 A

ABCA3related interstitial lung disease beyond infancy Thorax

Oncology Letters

JCI Human pluripotent stem cell modeling of alveolar type 2 cell

Frontiers Gene Therapy Potential for Genetic Disorders of Surfactant

A Structural organization of the human ABCA17PABCA3 gene locus on

ABCA3 a tumor suppressor gene inhibits the proliferation migration

Human Mutation Vol 41 No 7

Morphology of ATPbinding cassette transporter A3 ABCA3positive

Frontiers Case Report Report of Two Cases of Interstitial Lung

Aberrant catalytic cycle and impaired lipid transport into

Figure 2 from Alteration of the pulmonary surfactant system in full

Morphology of ATPbinding cassette transporter A3 ABCA3positive

11 MonthOld Human Lung Immunofluorescence and Confocal Imaging Donor

Detection of ATPbinding cassette transporter A3 ABCA3 expression in

JCI Human pluripotent stem cell modeling of alveolar type 2 cell

A novel conserved targeting motif found in ABCA transporters mediates

Figure 3 from Structural Features of the ATPBinding Cassette ABC

Histopathology and electron microscopy of ABCA3deficient lung tissue

Characterization and Classification of ATPbinding Cassette Transporter

Lungdiseaseassociated compound heterozygous mutations of ABCA3 Top

Histopathology and electron microscopy of ABCA3deficient lung tissue

4 MonthOld Human Lung Immunofluorescence and Confocal Imaging Donor

Oncology Letters

Working models of the ABCA transporters Schematic diagram of the

EMC3 coordinates surfactant protein and lipid homeostasis required for

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