Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
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Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding. / Dorfmeister, B; Zeng, W W; Dichlberger, A; Nilsson, S K; Schaap, F G; Hubacek, J A; Merkel, Martin; Cooper, J A; Lookene, A; Putt, W; Whittall, R; Lee, P J; Lins, L; Delsaux, N; Nierman, M; Kuivenhoven, J A; Kastelein, J J P; Vrablik, M; Olivecrona, G; Schneider, W J; Heeren, Jörg; Humphries, S E; Talmud, P J.
In: ARTERIOSCL THROM VAS, Vol. 28, No. 10, 10, 2008, p. 1866-1871.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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TY - JOUR
T1 - Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding.
AU - Dorfmeister, B
AU - Zeng, W W
AU - Dichlberger, A
AU - Nilsson, S K
AU - Schaap, F G
AU - Hubacek, J A
AU - Merkel, Martin
AU - Cooper, J A
AU - Lookene, A
AU - Putt, W
AU - Whittall, R
AU - Lee, P J
AU - Lins, L
AU - Delsaux, N
AU - Nierman, M
AU - Kuivenhoven, J A
AU - Kastelein, J J P
AU - Vrablik, M
AU - Olivecrona, G
AU - Schneider, W J
AU - Heeren, Jörg
AU - Humphries, S E
AU - Talmud, P J
PY - 2008
Y1 - 2008
N2 - OBJECTIVE: The purpose of this study was to identify rare APOA5 variants in 130 severe hypertriglyceridemic patients by sequencing, and to test their functionality, since no patient recall was possible. METHODS AND RESULTS: We studied the impact in vitro on LPL activity and receptor binding of 3 novel heterozygous variants, apoAV-E255G, -G271C, and -H321L, together with the previously reported -G185C, -Q139X, -Q148X, and a novel construct -Delta139 to 147. Using VLDL as a TG-source, compared to wild type, apoAV-G255, -L321 and -C185 showed reduced LPL activation (-25% [P=0.005], -36% [P
AB - OBJECTIVE: The purpose of this study was to identify rare APOA5 variants in 130 severe hypertriglyceridemic patients by sequencing, and to test their functionality, since no patient recall was possible. METHODS AND RESULTS: We studied the impact in vitro on LPL activity and receptor binding of 3 novel heterozygous variants, apoAV-E255G, -G271C, and -H321L, together with the previously reported -G185C, -Q139X, -Q148X, and a novel construct -Delta139 to 147. Using VLDL as a TG-source, compared to wild type, apoAV-G255, -L321 and -C185 showed reduced LPL activation (-25% [P=0.005], -36% [P
M3 - SCORING: Zeitschriftenaufsatz
VL - 28
SP - 1866
EP - 1871
JO - ARTERIOSCL THROM VAS
JF - ARTERIOSCL THROM VAS
SN - 1079-5642
IS - 10
M1 - 10
ER -