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Compound heterozygosity for a structural apolipoprotein A-I variant, apo A-I(L141R)Pisa, and an apolipoprotein A-I null allele in patients with absence of HDL cholesterol, corneal opacifications, and coronary heart disease.
Miccoli R, Bertolotto A, Navalesi R, Odoguardi L, Boni A, Wessling J, Funke H, Wiebusch H, Eckardstein A, Assmann G. Miccoli R, et al. Circulation. 1996 Oct 1;94(7):1622-8. doi: 10.1161/01.cir.94.7.1622. Circulation. 1996. PMID: 8840853
The four patients were compound heterozygotes for a null allele and a missense mutation in the apo A-I gene that leads to a leucine-->arginine substitution at residue 141 [apo A-I(L141R)Pisa]. Heterozygotes for either the null allele o …
The four patients were compound heterozygotes for a null allele and a missense mutation in the apo A-I gene that leads …
Lipid-free apolipoprotein (apo) A-I is converted into alpha-migrating high density lipoproteins by lipoprotein-depleted plasma of normolipidemic donors and apo A-I-deficient patients but not of Tangier disease patients.
von Eckardstein A, Huang Y, Kastelein JJ, Geisel J, Real JT, Kuivenhoven JA, Miccoli R, Noseda G, Assmann G. von Eckardstein A, et al. Among authors: miccoli r. Atherosclerosis. 1998 May;138(1):25-34. doi: 10.1016/s0021-9150(97)00280-3. Atherosclerosis. 1998. PMID: 9678768
The residual amounts of apolipoprotein A-I (apo A-I) in TD plasma have electrophoretic prebeta1-LpA-I mobility. ...In this study we found that plasmas of normolipidemic controls, apo A-I-deficient patients and patient …
The residual amounts of apolipoprotein A-I (apo A-I) in TD plasma have electrophoretic prebeta1-Lp …
A natural apolipoprotein A-I variant, apoA-I (L141R)Pisa, interferes with the formation of alpha-high density lipoproteins (HDL) but not with the formation of pre beta 1-HDL and influences efflux of cholesterol into plasma.
Miccoli R, Zhu Y, Daum U, Wessling J, Huang Y, Navalesi R, Assmann G, von Eckardstein A. Miccoli R, et al. J Lipid Res. 1997 Jun;38(6):1242-53. J Lipid Res. 1997. PMID: 9215551 Free article.
ApoA-I(L141R)Pisa is a naturally occurring apolipoprotein A-I variant that causes virtual absence of HDL in hemizygotes and hypoalphalipoproteinemia with half-normal levels of HDL-cholesterol in heterozygotes. ...
ApoA-I(L141R)Pisa is a naturally occurring apolipoprotein A-I variant that causes virtual absence of HDL in hemizygotes …
Recurrent mutations of the apolipoprotein A-I gene in three kindreds with severe HDL deficiency.
Pisciotta L, Miccoli R, Cantafora A, Calabresi L, Tarugi P, Alessandrini P, Bittolo Bon G, Franceschini G, Cortese C, Calandra S, Bertolini S. Pisciotta L, et al. Among authors: miccoli r. Atherosclerosis. 2003 Apr;167(2):335-45. doi: 10.1016/s0021-9150(03)00020-0. Atherosclerosis. 2003. PMID: 12818417
Two siblings with high density lipoprotein (HDL) deficiency and no plasma apolipoprotein A-I (Apo A-I) were found to be homozygous for a cytosine deletion in exon 3 of Apo A-I gene (c.85 del C, Q5FsX11). ...In two oth …
Two siblings with high density lipoprotein (HDL) deficiency and no plasma apolipoprotein A-I (Apo A-I …
Modulated serum activities and concentrations of paraoxonase in high density lipoprotein deficiency states.
James RW, Blatter Garin MC, Calabresi L, Miccoli R, von Eckardstein A, Tilly-Kiesi M, Taskinen MR, Assmann G, Franceschini G. James RW, et al. Among authors: miccoli r. Atherosclerosis. 1998 Jul;139(1):77-82. doi: 10.1016/s0021-9150(98)00058-6. Atherosclerosis. 1998. PMID: 9699894
Despite reduction or even absence of detectable HDL, enzyme activity was present in sera from A-I-Pisa, A-I-Helsinki, A-I-Milano and Tangier patients. Both enzyme activities and peptide concentrations were modulated (reduced) but specific …
Despite reduction or even absence of detectable HDL, enzyme activity was present in sera from A-I-Pisa, A-I-Hels …
Plasma and fibroblasts of Tangier disease patients are disturbed in transferring phospholipids onto apolipoprotein A-I.
von Eckardstein A, Chirazi A, Schuler-Lüttmann S, Walter M, Kastelein JJ, Geisel J, Real JT, Miccoli R, Noseda G, Höbbel G, Assmann G. von Eckardstein A, et al. Among authors: miccoli r. J Lipid Res. 1998 May;39(5):987-98. J Lipid Res. 1998. PMID: 9610765 Free article.
Plasmas of patients with Tangier disease (TD) lack lipid-rich alpha-HDL which, in normal plasma, constitutes the majority of high density lipoprotein (HDL). Residual amounts of apolipoprotein (apo)A-I in TD plasma occur as lipid-poor or even lipid-free …
Plasmas of patients with Tangier disease (TD) lack lipid-rich alpha-HDL which, in normal plasma, constitutes the majority of high density li …