Preliminary report on a case of apolipoproteins CI and CII deficiency
References (32)
- et al.
Familial type I hyperlipoproteinemia caused by apolipoprotein CII deficiency
Atherosclerosis
(1979) - et al.
New case of apolipoprotein C II deficiency
Lancet
(1980) - et al.
Combined deficiency of apolipoprotein C II and lipoprotein lipase in familial hyperchylomicronemia
Metabolism
(1981) - et al.
Plasma lipids, lipoproteins and apoproteins in a case of Apo C II deficiency
Clin Chim Acta
(1983) - et al.
Familial lipoprotein lipase and apolipoprotein C II deficiency
Atherosclerosis
(1983) - et al.
A modified method for preparative ultracentrifugation of plasma lipoproteins
Clin Chim Acta
(1975) - et al.
Separation of the apoprotein components of human serum H.D.L.: chromatofocusing a new simple technique
Clin Chim Acta
(1982) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
Analyt Biochem
(1976)A rapid electrophoretic technique for identification of subunit species of apoproteins in serum lipoproteins
Analyt Biochem
(1973)Molecular weight determination of protein-dodecylsulfate complexes by gel electrophoresis in a discontinuous buffer system
J Biol Chem
(1971)
Combination of affinity chromatography and analytical polyacrylamide gel electrophoresis for rapid measurement of human serum high density lipoprotein apoproteins
Analyt Biochem
Lipolytic activity of post heparin plasma in hypertriglyceridemia
J Lipid Res
Lipoprotein abnormalities associated with familial deficiency of hepatic lipase
Atherosclerosis
Hypertriglyceridemia associated with deficiency of apolipoprotein C II
N Engl J Med
Inheritance of apolipoprotein C II deficiency with hypertriglyceridemia and pancreatitis
N Engl J Med
Familial apolipoprotein C II deficiency plasma-lipoproteins and apolipoproteins in heterozygous and homozygous subjects and the effects of plasma infusion
Eur J Clin Invest
Cited by (11)
WAT apoC-I secretion: Role in delayed chylomicron clearance in vivo and ex vivo in WAT in obese subjects
2016, Journal of Lipid ResearchCitation Excerpt :Identifying the physiological role of apoC-I in humans has been challenging because, to date, there are no primary dyslipidemias attributed to an apoC-I mutation or polymorphism. In fact, only a single case-report of complete apoC-I deficiency was found in which the patient had combined deficiency of apoC-I and apoC-II and suffered from hypertriglyceridemia, hypercholesterolemia, and type 2 diabetes (35). ApoC-I polymorphisms are equally rare, as only two have been reported: a polymorphism in the promoter region (Hpa1) (36, 37) and an apoC-I structural variant (T45S) (38).
APOC1 T45S polymorphism is associated with reduced obesity indices and lower plasma concentrations of leptin and apolipoprotein C-I in aboriginal Canadians
2010, Journal of Lipid ResearchCitation Excerpt :Little is known about naturally occurring mutations in the APOC1 gene contributing to lipid-related abnormalities in humans. Dumon et al. (39) reported a patient with chylomicronemia who had a naturally occurring mutation in APOC1 resulting in a deficiency of apo C-I. However, this patient concurrently suffered from apo C-II deficiency due to an APOC2 defect, which was more likely to have been the cause of the chylomicronemia (39). Mass spectrometry studies elucidated the first structural nonsynonymous variant of apo C-I T45S that was observed to have increased N-terminal truncation and increased in vitro distribution to the VLDL fraction in Native Americans and Mexicans (25).
Contributions of domain structure and lipid interaction to the functionality of exchangeable human apolipoproteins
2004, Progress in Lipid ResearchOn the structure and function of apolipoproteins: More than a family of lipid-binding proteins
2003, Progress in Biophysics and Molecular Biology