4.1 Review

Genetic Disorders of Surfactant Dysfunction

Related references

Note: Only part of the references are listed.
Article Genetics & Heredity

Genetic Defects in Surfactant Protein A2 Are Associated with Pulmonary Fibrosis and Lung Cancer

Yongyu Wang et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2009)

Article Physiology

Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease

Yoshihiro Matsumura et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2008)

Article Genetics & Heredity

Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics

Marjan Huizing et al.

Annual Review of Genomics and Human Genetics (2008)

Article Biochemistry & Molecular Biology

Mutations linked to interstitial lung disease can abrogate anti-amyloid function of prosurfactant protein C

Charlotte Nerelius et al.

BIOCHEMICAL JOURNAL (2008)

Review Biochemistry & Molecular Biology

Structure of pulmonary surfactant membranes and films:: The role of proteins and lipid-protein interactions

Jesus Perez-Gil

BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES (2008)

Article Critical Care Medicine

Usual interstitial pneumonia in an adolescent with ABCA3 mutations

Lisa R. Young et al.

CHEST (2008)

Article Immunology

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA

Takuji Suzuki et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2008)

Article Immunology

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1

Margarita Martinez-Moczygemba et al.

JOURNAL OF EXPERIMENTAL MEDICINE (2008)

Article Pediatrics

Surfactant collectins and innate immunity

Henk P. Haagsman et al.

NEONATOLOGY (2008)

Article Obstetrics & Gynecology

Posttranslational Regulation of Surfactant Protein B Expression

Susan Guttentag

SEMINARS IN PERINATOLOGY (2008)

Article Pediatrics

Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress

Takuya Yokota et al.

EUROPEAN JOURNAL OF PEDIATRICS (2008)

Article Critical Care Medicine

Diffuse lung disease in young children - Application of a novel classification scheme

Gail H. Deutsch et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2007)

Article Pediatrics

ABCA3 deficiency presenting as persistent pulmonary hypertension of the newborn

Anette M. Kunig et al.

JOURNAL OF PEDIATRICS (2007)

Article Physiology

Misfolded BRICHOS SP-C mutant proteins induce apoptosis via caspase-4- and cytochrome c-related mechanisms

Surafel Mulugeta et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2007)

Article Biochemistry & Molecular Biology

ABCA3 is critical for lamellar body biogenesis in vivo

Naeun Cheong et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

Targeted inactivation of the murine Abca3 gene leads to respiratory failure in newborns with defective lamellar bodies

Markus Hammel et al.

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2007)

Review Cell Biology

Pulmonary collectins in innate immunity of the lung

Yoshio Kuroki et al.

CELLULAR MICROBIOLOGY (2007)

Review Physiology

Regulation of surfactant secretion in alveolar type II cells

Alexandra V. Andreeva et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2007)

Article Biochemistry & Molecular Biology

ABCA3-mediated choline-phospholipids uptake into intracellular vesicles in A549 cells

Yoshihiro Matsumura et al.

FEBS LETTERS (2007)

Article Pediatrics

Unexplained neonatal respiratory distress due to congenital surfactant deficiency

Marco Somaschini et al.

JOURNAL OF PEDIATRICS (2007)

Review Biochemistry & Molecular Biology

ABC A-subclass proteins: Gatekeepers of cellular phospho- and sphingolipid transport

Juergen J. Wenzel et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2007)

Article Biochemistry & Molecular Biology

ABCA3 as a lipid transporter in pulmonary surfactant biogenesis

Nobuhiro Ban et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Biochemistry & Molecular Biology

ABCA3 inactivation in mice causes respiratory failure, loss of pulmonary surfactant, and depletion of lung phosphatidylglycerol

Michael L. Fitzgerald et al.

JOURNAL OF LIPID RESEARCH (2007)

Review Physiology

The ABCA subfamily - gene and protein structures, functions and associated hereditary diseases

Christiane Albrecht et al.

PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY (2007)

Review Biochemistry & Molecular Biology

Genetic basis of respiratory distress syndrome

Mikko Hallman et al.

FRONTIERS IN BIOSCIENCE-LANDMARK (2007)

Article Respiratory System

Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias

P. Markart et al.

EUROPEAN RESPIRATORY JOURNAL (2007)

Article Cell Biology

Expression of ABCA3 in developing lung and other tissues

Mildred T. Stahlman et al.

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2007)

Article Pediatrics

Genetic disorders of surfactant proteins

Aaron Hamvas et al.

NEONATOLOGY (2007)

Review Obstetrics & Gynecology

Surfactant protein polymorphisms and neonatal lung disease

Mikko Hallman et al.

SEMINARS IN PERINATOLOGY (2006)

Review Obstetrics & Gynecology

ABCA3 deficiency: Neonatal respiratory failure and interstitial lung disease

Janine E. Bullard et al.

SEMINARS IN PERINATOLOGY (2006)

Article Biochemistry & Molecular Biology

Characterization and classification of ATP-binding cassette transporter ABCA3 mutants in fatal surfactant deficiency

Yoshihiro Matsumura et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Review Pediatrics

Defects in surfactant synthesis: Clinical implications

F. Sessions Cole et al.

PEDIATRIC CLINICS OF NORTH AMERICA (2006)

Article Physiology

Surface tension influences cell shape and phagocytosis in alveolar macrophages

Hiroko Akei et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2006)

Article Critical Care Medicine

Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency

Frank Brasch et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2006)

Article Biochemistry & Molecular Biology

Protein-lipid interactions and surface activity in the pulmonary surfactant system

Alicia G. Serrano et al.

CHEMISTRY AND PHYSICS OF LIPIDS (2006)

Article Pediatrics

Surfactant composition and function in patients with ABCA3 mutations

TH Garmany et al.

PEDIATRIC RESEARCH (2006)

Article Biochemistry & Molecular Biology

Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome

N Cheong et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2006)

Article Genetics & Heredity

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency

M Tredano et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Review Pediatrics

Genetics of pediatric interstitial lung disease

Lawrence M. Nogee

CURRENT OPINION IN PEDIATRICS (2006)

Review Pharmacology & Pharmacy

In defense of the lung: surfactant protein A and surfactant protein D

PS Kingma et al.

CURRENT OPINION IN PHARMACOLOGY (2006)

Article Obstetrics & Gynecology

Neonatal respiratory failure associated with mutation in the surfactant protein C gene

A. S. Soraisham et al.

JOURNAL OF PERINATOLOGY (2006)

Article Microscopy

Ultrastructure of lamellar bodies in congenital surfactant deficiency

V Edwards et al.

ULTRASTRUCTURAL PATHOLOGY (2005)

Article Critical Care Medicine

ABCA3 mutations associated with pediatric interstitial lung disease

JE Bullard et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2005)

Article Biochemistry & Molecular Biology

A surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activation

S Mulugeta et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2005)

Review Respiratory System

Interstitial lung disease in children - genetic background and associated phenotypes

D Hartl et al.

RESPIRATORY RESEARCH (2005)

Article Physiology

Surfactant protein D influences surfactant ultrastructure and uptake by alveolar type II cells

M Ikegami et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2005)

Article Pediatrics

A common mutation in the surfactant protein C gene associated with lung disease

HS Cameron et al.

JOURNAL OF PEDIATRICS (2005)

Article Biochemistry & Molecular Biology

Processing of pulmonary surfactant protein B by napsin and cathepsin H

T Ueno et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

Article Biochemistry & Molecular Biology

Surfactant protein B in type II pneumocytes and intra-alveolar surfactant forms of human lungs

F Brasch et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2004)

Article Genetics & Heredity

Mutation of SFTPC in infantile pulmonary alveolar proteinosis with or without fibrosing lung disease

M Tredano et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)

Article Medicine, General & Internal

ABCA3 gene mutations in newborns with fatal surfactant deficiency

S Shulenin et al.

NEW ENGLAND JOURNAL OF MEDICINE (2004)

Article Respiratory System

Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene

F Brasch et al.

EUROPEAN RESPIRATORY JOURNAL (2004)

Letter Respiratory System

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation

S Percopo et al.

EUROPEAN RESPIRATORY JOURNAL (2004)

Article Biochemistry & Molecular Biology

Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene

A Hamvas et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2004)

Review Physiology

Alterations in SP-B and SP-C expression in neonatal lung disease

LM Nogee

ANNUAL REVIEW OF PHYSIOLOGY (2004)

Article Pediatrics

Host defense functions of pulmonary surfactant

JR Wright

BIOLOGY OF THE NEONATE (2004)

Article Pediatrics

Genetic mechanisms of surfactant deficiency

LM Nogee

BIOLOGY OF THE NEONATE (2004)

Review Medicine, General & Internal

Pulmonary alveolar proteinosis

BC Trapnell et al.

NEW ENGLAND JOURNAL OF MEDICINE (2003)

Article Biochemistry & Molecular Biology

Involvement of napsin A in the C- and N-terminal processing of surfactant protein B in type-II pneumocytes of the human lung

F Brasch et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

In vitro surfactant protein B deficiency inhibits lamellar body formation

CD Foster et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2003)

Article Biochemistry & Molecular Biology

Pneumonitis and emphysema in sp-C gene targeted mice

SW Glasser et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Biochemistry & Molecular Biology

Expression and localization of lung surfactant protein A in human tissues

J Madsen et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2003)

Article Biochemistry & Molecular Biology

Cysteine protease activity is required for surfactant protein B processing and lamellar body genesis

S Guttentag et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2003)

Review Medicine, General & Internal

Mechanisms of disease: Hydrophobic surfactant proteins in lung function and disease

JA Whitsett et al.

NEW ENGLAND JOURNAL OF MEDICINE (2002)

Article Physiology

Sequential targeted deficiency of SP-A and -D leads to progressive alveolar lipoproteinosis and emphysema

S Hawgood et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2002)

Review Biochemistry & Molecular Biology

Palmitoylation and processing of the lipopeptide surfactant protein C

A ten Brinke et al.

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS (2002)

Article Cell Biology

Immunolocalization of surfactant protein-D (SP-D) in human fetal, newborn, and adult tissues

MT Stahlman et al.

JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY (2002)

Article Biochemistry & Molecular Biology

ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells

G Yamano et al.

FEBS LETTERS (2001)

Article Obstetrics & Gynecology

Biology of surfactant

AH Jobe et al.

CLINICS IN PERINATOLOGY (2001)

Review Pathology

Localization and functions of SP-A and SP-D at mucosal surfaces

BAWM van Rozendaal et al.

PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE (2001)

Article Pediatrics

Surfactant protein deficiency in familial interstitial lung disease

RS Amin et al.

JOURNAL OF PEDIATRICS (2001)

Article Multidisciplinary Sciences

Altered stability of pulmonary surfactant in SP-C-deficient mice

SW Glasser et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2001)

Article Medicine, General & Internal

A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

LM Nogee et al.

NEW ENGLAND JOURNAL OF MEDICINE (2001)

Article Immunology

Pulmonary collectins and innate host defense of the lung

AM LeVine et al.

MICROBES AND INFECTION (2001)

Review Physiology

Functions of surfactant proteins B and C

TE Weaver et al.

ANNUAL REVIEW OF PHYSIOLOGY (2001)

Article Physiology

Surface-expressed lamellar body membrane is recycled to lamellar bodies

S Schaller-Bals et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2000)

Article Immunology

Localization of lung surfactant protein D on mucosal surfaces in human tissues

J Madsen et al.

JOURNAL OF IMMUNOLOGY (2000)

Article Multidisciplinary Sciences

Increased metalloproteinase activity, oxidant production, and emphysema in surfactant protein D gene-inactivated mice

SE Wert et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2000)

Article Biochemistry & Molecular Biology

Intracellular localization of processing events in human surfactant protein B biosynthesis

A Korimilli et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2000)

Article Physiology

Lamellar body membrane turnover is stimulated by secretagogues

SR Bates et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2000)

Article Biochemistry & Molecular Biology

Pulmonary surfactant metabolism in infants lacking surfactant protein B

MF Beers et al.

AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2000)

Article Physiology

Pulmonary-specific expression of SP-D corrects pulmonary lipid accumulation in SP-D gene-targeted mice

JH Fisher et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2000)

Article Critical Care Medicine

Deficiency of lamellar bodies in alveolar type II cells associated with fatal respiratory disease in a full-term infant

E Cutz et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2000)

Article Critical Care Medicine

Hereditary surfactant protein B deficiency resulting from a novel mutation

M Somaschini et al.

INTENSIVE CARE MEDICINE (2000)

Article Critical Care Medicine

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency

LM Nogee et al.

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2000)

Article Medicine, Research & Experimental

Lamellar body formation in normal and surfactant protein B-deficient fetal mice

MT Stahlman et al.

LABORATORY INVESTIGATION (2000)

Article Obstetrics & Gynecology

Recurrent familial neonatal deaths: Hereditary surfactant protein B deficiency

C Andersen et al.

AMERICAN JOURNAL OF PERINATOLOGY (2000)

Article Physiology

Surfactant metabolism in SP-D gene-targeted mice

M Ikegami et al.

AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY (2000)