ABCA1: A Therapeutic Target for Improving Cholesterol Homeostasis in Peripheral Neuropathies.

A Novel Missense Mutation in a Compound Heterozygous Patient with Fish-Eye Disease: A Case Report.

A novel ABCA1 variant associated with impaired platelet production contributing to thrombocytopenia in a family with Tangier disease.

Assessing rare disease understanding: a novel disease readiness level framework.

Deficiency of the Tangier Disease Gene Abca1 Is Associated With Microglial Defects in Mice.

Miglustat as a Treatment for Adults with Tangier Disease Neuropathy: The MUSTANG N-of-1 Trial with 21 months Clinical Observation.

A novel ABCA1 mutation in Tangier disease associated with severe premature and rapidly progressive neurodegenerative disorder.

Progressive histiocytosis in Tangier disease: a 17-year follow-up.

Functional characterization of genetic variants affecting the intracellular domains of ATP-binding cassette transporter A1 (ABCA1).

Is Tangier disease a rare cause of premature ovarian insufficiency?: A case report.

Quantitative Sensory Testing in a Girl With Tangier Disease: A Case Report.

Expect the unexpected: Tangier disease and monoclonal gammopathy of undetermined significance.

Lipid Dysregulation in Tangier Disease: A Case Series and Metabolic Characterization.

A novel variant in the ABCA1 gene for Tangier Disease with diffuse histiocytosis of bone marrow.

The clinical presentation and genetic diagnosis of Tangier disease in the pediatric age group.

Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

Novel pathogenic variant in the LCAT gene in a compound heterozygous patient with fish-eye disease and a mild phenotype.

[Homozygous ABCA1 gene mutated Tangier disease complicated with diabetes mellitus: a case report].

A novel splicing variant in ABCA1 in the first reported Hong Kong Chinese patient with high-density lipoprotein deficiency.

ABCA1 deficiency causes tissue-specific dysregulation of the SREBP2 pathway in mice.

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.

Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia.

Role of ABCA1 in Atherosclerosis: Novel Mutations and Potential Plant-derived Therapies.

A case report of Tangier disease presents with acute sensorimotor polyneuropathy and its treatment approach.

Functional characterization of missense variants affecting the extracellular domains of ABCA1 using a fluorescence-based assay.

Interpreting New Thoughts on HDL Through the Lens of Chesapeake Bay's Tangier Disease.

The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C.

Atypical Presentation of Tangier Disease-Expanding the Clinical Spectrum.

Hepatocyte ABCA1 deficiency is associated with reduced HDL sphingolipids.

ABCA1 Deficiency: A Rare Cause of Premature Coronary Artery Disease.

Rare primary dyslipidaemias associated with low LDL and HDL cholesterol values in Portugal.

Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease.

Early-onset atherosclerosis in a patient with Tangier disease: Not all that is gold glitters.

Biomedical Advances in ABCA1 Transporter: From Bench to Bedside.

Very low HDL levels: clinical assessment and management.

A rare case of nephrotic syndrome and Tangier disease.

HDL, cholesterol efflux, and ABCA1: Free from good and evil dualism.

Sensory-motor not length-dependent multineuropathy followed by the syringomyelia-like phenotype: a novel presentation of Tangier disease.

Molecular Mechanisms of Sphingolipid Transport on Plasma Lipoproteins.

A case of mesenteric panniculitis in a patient with Tangier disease.

Cholesterol efflux mechanism revealed by structural analysis of human ABCA1 conformational states.

Tangier Disease: An Unusual Cause of Chronic Diarrhea.

Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design.

Current Diagnosis and Management of Tangier Disease.

Phospholipid transfer to high-density lipoprotein (HDL) upon triglyceride lipolysis is directly correlated with HDL-cholesterol levels and is not associated with cardiovascular risk.

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

A case of premature and recurrent myocardial infarction associated with ABCA.1 gene mutation.

[Tangier disease in family with the phenotype of familial hypercholesterolemia].

Unusual White-Yellowish Dots in the Colon Reveal a Rare Metabolic Disease.

The ABCs of Sterol Transport.

Orphan Peripheral Neuropathies.

The impact of ATP-binding cassette transporters on metabolic diseases.

Human Insulin Growth Factor 2 mRNA Binding Protein 2 Increases MicroRNA 33a/b Inhibition of Liver ABCA1 Expression and Alters Low-Density Apolipoprotein Levels in Mice.

Tangier disease: update for 2020.

LCAT, ApoD, and ApoA1 Expression and Review of Cholesterol Deposition in the Cornea.

Mechanistic convergence and shared therapeutic targets in Niemann-Pick disease.

[Inborn errors of high-density lipoprotein metabolism].

ATP-binding cassette A1 deficiency causes cardiolipin-driven mitochondrial dysfunction in podocytes.

Functionally Significant Features in the 5' Untranslated Region of the ABCA1 Gene and Their Comparison in Vertebrates.

Nerve high-resolution ultrasonography in tangier disease.

A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.

Ocular and Genetic Characteristics Observed in Two Cases of Fish-Eye Disease.

Identification of the first Tangier disease patient in Lebanon carrying a new pathogenic variant in ABCA1.

ATP binding cassette family A protein 1 determines hexosylceramide and sphingomyelin levels in human and mouse plasma.

Tangier disease may cause early onset of atherosclerotic cerebral infarction: A case report.

A novel homozygous ABCA1 variant in an asymptomatic man with profound hypoalphalipoproteinemia.

Undetectable high-density lipoprotein cholesterol in acute malaria.

Cholesterol Efflux Pathways Suppress Inflammasome Activation, NETosis, and Atherogenesis.

Peripheral neuropathy in Tangier disease: A literature review and assessment.

Accelerated Atherogenicity in Tangier Disease.

ATP-binding cassette transporter A1: A promising therapy target for prostate cancer.

Unusual yellow scaly colonic mucosal appearance: Tangier disease.

Can Tangier disease cause male infertility? A case report and an overview on genetic causes of male infertility and hormonal axis involved.

Steryl ester synthesis, storage and hydrolysis: A contribution to sterol homeostasis.

[Valve Replacement for Severe Aortic Stenosis in a Patient with Tangier Disease].

Hepatic ABCA1 deficiency is associated with delayed apolipoprotein B secretory trafficking and augmented VLDL triglyceride secretion.

The usefulness of advanced lipid and oxidative stress testing for diagnosis and management of low HDL-cholesterol phenotype: A case report.

Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations.

Structure of the Human Lipid Exporter ABCA1.

Clinical utility gene card for: Tangier disease.

The iPSC Awakens ANGPTL3 in Tangier Disease.

ATP-Binding Cassette Transporter A1 Deficiency in Human Induced Pluripotent Stem Cell-Derived Hepatocytes Abrogates HDL Biogenesis and Enhances Triglyceride Secretion.

Methods for Monitoring ABCA1-Dependent Sterol Release.

A Novel Mutation in ABCA1 Gene Causing Tangier Disease in an Italian Family with Uncommon Neurological Presentation.

Cell lipid metabolism modulators 2-bromopalmitate, D609, monensin, U18666A and probucol shift discoidal HDL formation to the smaller-sized particles: implications for the mechanism of HDL assembly.

Diagnosis and treatment of high density lipoprotein deficiency.

Human serum preβ1-high density lipoprotein levels are independently and negatively associated with coronary artery diseases.

Tangier's disease: An uncommon cause of facial weakness and non-length dependent demyelinating neuropathy.

ATP-binding cassette transporter 1 (ABCA1) deficiency decreases platelet reactivity and reduces thromboxane A2 production independently of hematopoietic ABCA1.

An uncommon cause of bifacial weakness and non-length-dependent demyelinating neuropathy.

Subfraction analysis of circulating lipoproteins in a patient with Tangier disease due to a novel ABCA1 mutation.

Update on the molecular biology of dyslipidemias.

Clinical, Electrodiagnostic, and Genetic Features of Tangier Disease in an Adolescent Girl with Presentation of Peripheral Neuropathy.

The Role of Cardiolipin in Cardiovascular Health.

Deficiency in the Lipid Exporter ABCA1 Impairs Retrograde Sterol Movement and Disrupts Sterol Sensing at the Endoplasmic Reticulum.

Extreme clinical chemistry.

ABCA1 and Inflammation: From Animal Models to Humans.

Functional analysis and transcriptomic profiling of iPSC-derived macrophages and their application in modeling Mendelian disease.

Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene.

HDL particle size is a critical determinant of ABCA1-mediated macrophage cellular cholesterol export.