[HTML][HTML] A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family
M Maranghi, G Truglio, A Gallo, E Grieco… - Biochemical and …, 2019 - Elsevier
… mutations in a patient with Tangier disease, who presented an uncommon clinical history,
and in his family … of a new patient with familial high-density lipoprotein deficiency syndrome …
and in his family … of a new patient with familial high-density lipoprotein deficiency syndrome …
[HTML][HTML] Tangier Disease Synonyms: Analphalipoproteinemia, Familial High-Density Lipoprotein Deficiency 1, Primary Hypoalphalipoproteinemia
JR Burnett, AJ Hooper, SPA McCormick… - … Reviews. University of …, 2020 - europepmc.org
… Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …
Association of a Novel Homozygous Variant in ABCA1 Gene with Tangier Disease
S Barbosa-Gouveia, S Fernández-Crespo… - Journal of Clinical …, 2023 - mdpi.com
… reduced levels of plasma high-density lipoprotein cholesterol (HDL-… The ATP-binding cassette
(ABC) transporter superfamily is a … The protein modelling of wild-type and mutated ABCA1 …
(ABC) transporter superfamily is a … The protein modelling of wild-type and mutated ABCA1 …
Genetic and Functional Analyses of Patients with Marked Hypo-High-Density Lipoprotein Cholesterolemia
Y Furuta, Y Osaki, Y Nakagawa, SI Han… - … of Atherosclerosis and …, 2024 - jstage.jst.go.jp
… Serum HDL levels are reduced to zero in homozygous mutants and to normal or mildly
below normal levels in heterozygous mutants. Typical symptoms of Tangier disease include …
below normal levels in heterozygous mutants. Typical symptoms of Tangier disease include …
Current diagnosis and management of tangier disease
M Koseki, S Yamashita, M Ogura, Y Ishigaki… - … of Atherosclerosis and …, 2021 - jstage.jst.go.jp
… Tangier disease is a genetic disorder characterized by an absence or extremely low level
of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation …
of high-density lipoprotein (HDL)-cholesterol (HDL-C). It is caused by a dysfunctional mutation …
[HTML][HTML] Tangier disease
JR Burnett, AJ Hooper, SPA McCormick, RA Hegele - 2019 - europepmc.org
… Tangier disease is characterized by severe deficiency or absence of high-density lipoprotein
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …
(HDL… The major clinical signs of Tangier disease include hyperplastic yellow-orange tonsils, …
ABC transporters, cholesterol efflux, and implications for cardiovascular diseases
N Wang, M Westerterp - Lipid Transfer in Lipoprotein Metabolism and …, 2020 - Springer
… and phospholipid efflux to apolipoprotein AI and high density lipoprotein (HDL) biogenesis.
… 6.5 ABC Transporters in HDL Metabolism and ACD As the mutated gene in Tangier Disease, …
… 6.5 ABC Transporters in HDL Metabolism and ACD As the mutated gene in Tangier Disease, …
[PDF][PDF] Tangier Disease
… ABC (ATP-binding-cassette) gene family with several subfamilies that play various roles in
lipid and ion transportation. Mutations in specific ABC … high density lipoprotein cholesterol …
lipid and ion transportation. Mutations in specific ABC … high density lipoprotein cholesterol …
[HTML][HTML] HDL, cholesterol efflux, and ABCA1: Free from good and evil dualism
M Ogura - Journal of Pharmacological Sciences, 2022 - Elsevier
… mutations in ABCA1 cause Tangier disease. The phenotype of their markedly reduced or loss
of blood high-density lipoprotein (HDL) cholesterol… A1 (ABCA1)-deficient mice, proved that …
of blood high-density lipoprotein (HDL) cholesterol… A1 (ABCA1)-deficient mice, proved that …
[PDF][PDF] Case Report: A Novel Mutation in the ABCA1 Gene, Resulting in a Compound Heterozygote with Tangier Disease
A Pizzini, E Demetz, L Lunger, C Heim… - Ann Clin Case Rep … - anncaserep.com
… Tangier Disease (TD) is a rare autosomal recessive disease characterized by a severe
deficiency in High-Density Lipoprotein Cholesterol (… an impaired Reverse Cholesterol Transport (…
deficiency in High-Density Lipoprotein Cholesterol (… an impaired Reverse Cholesterol Transport (…