Familial HDL Deficiency Latest Advances

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

Journal: Journal of clinical lipidology

Published: July 21, 2024

Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

Journal: JACC. Case reports

Published: June 17, 2024

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

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: May 24, 2024

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal: Journal of lipid research

Published: September 30, 2021

Intravascular lithotripsy to treat an ostial left main coronary artery stenosis due to porcelain aorta in a patient with congenital high-density lipoprotein deficiency.

Journal: Anatolian journal of cardiology

Published: October 30, 2020

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

Journal: Biochemical and biophysical research communications

Published: November 03, 2018

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Journal: Journal of lipid research

Published: July 02, 2018

Structure of the Human Lipid Exporter ABCA1.

Journal: Cell

Published: March 24, 2017

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

Journal: Clinical science (London, England : 1979)

Published: March 09, 2017

Poor glycemic control in type 2 diabetes enhances functional and compositional alterations of small, dense HDL3c.

Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids

Published: March 26, 2016

Fish-eye disease: Another under-recognized cause of familial corneal opacification.

Journal: Ophthalmic genetics

Published: February 09, 2016

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

Journal: The Journal of biological chemistry

Published: May 01, 2015

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

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

Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

Primary Hypoalphalipoproteinemia With Significant Premature Atherosclerosis.

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

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

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Intravascular lithotripsy to treat an ostial left main coronary artery stenosis due to porcelain aorta in a patient with congenital high-density lipoprotein deficiency.

Intravascular lithotripsy to treat an ostial left main coronary artery stenosis due to porcelain aorta in a patient with congenital high-density lipoprotein deficiency.

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

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

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Structure of the Human Lipid Exporter ABCA1.

Structure of the Human Lipid Exporter ABCA1.

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

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

Poor glycemic control in type 2 diabetes enhances functional and compositional alterations of small, dense HDL3c.

Poor glycemic control in type 2 diabetes enhances functional and compositional alterations of small, dense HDL3c.

Fish-eye disease: Another under-recognized cause of familial corneal opacification.

Fish-eye disease: Another under-recognized cause of familial corneal opacification.

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

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