Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Peterfy M, Kastelein JJ, Johansen CT, Hegele RA, Stroes ES, Dallinga-Thie GM (2012)
Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia
J Intern Med 272: 185
Holleboom AG, Kuivenhoven JA, van Olden CC, Peter J, Schimmel AW, Levels JH, Valentijn RM, Vos P, Defesche JC, Kastelein JJ, Hovingh GK, Stroes ES, Hollak CE (2011)
Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase
Atherosclerosis 216: 161
Beigneux AP, Franssen R, Bensadoun A, Gin P, Melford K, Peter J, Walzem RL, Weinstein MM, Davies BS, Kuivenhoven JA, Kastelein JJ, Fong LG, Dallinga-Thie GM, Young SG (2009)
Chylomicronemia with a mutant GPIHBP1 (Q115P) that cannot bind lipoprotein lipase
Arterioscler Thromb Vasc Biol 29: 956
Dorfmeister B, Zeng WW, Dichlberger A, Nilsson SK, Schaap FG, Hubacek JA, Merkel M, Cooper JA, Lookene A, Putt W, Whittall R, Lee PJ, Lins L, Delsaux N, Nierman M, Kuivenhoven JA, Kastelein JJ, Vrablik M, Olivecrona G, Schneider WJ, Heeren J, Humphries SE, Talmud PJ (2008)
Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding
Arterioscler Thromb Vasc Biol 28: 1866
van Acker BA, Botma GJ, Zwinderman AH, Kuivenhoven JA, Dallinga-Thie GM, Sijbrands EJ, Boer JM, Seidell JC, Jukema JW, Kastelein JJ, Jansen H, Verhoeven AJ (2008)
High HDL cholesterol does not protect against coronary artery disease when associated with combined cholesteryl ester transfer protein and hepatic lipase gene variants
Atherosclerosis 200: 161
Rip J, Sierts JA, Vaessen SF, Kastelein JJ, Twisk J, Kuivenhoven JA (2007)
Adeno-associated virus LPL(S447X) gene therapy in LDL receptor knockout mice
Atherosclerosis 194: 55
Boekholdt SM, Souverein OW, Tanck MW, Hovingh GK, Kuivenhoven JA, Peters RI, Jansen H, Schiffers PM, van der Wall EE, Doevendans PA, Reitsma PH, Zwinderman AH, Kastelein JJ, Jukema JW (2006)
Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels
Clin Genet 69: 263
Rip J, Nierman MC, Wareham NJ, Luben R, Bingham SA, Day NE, van Miert JN, Hutten BA, Kastelein JJ, Kuivenhoven JA, Khaw KT, Boekholdt SM (2006)
Serum lipoprotein lipase concentration and risk for future coronary artery disease: the EPIC-Norfolk prospective population study
Arterioscler Thromb Vasc Biol 26: 637
Rip J, Nierman MC, Ross CJ, Jukema JW, Hayden MR, Kastelein JJ, Stroes ES, Kuivenhoven JA (2006)
Lipoprotein lipase S447X: a naturally occurring gain-of-function mutation
Arterioscler Thromb Vasc Biol 26: 1236
Ross CJ, Twisk J, Bakker AC, Miao F, Verbart D, Rip J, Godbey T, Dijkhuizen P, Hermens WT, Kastelein JJ, Kuivenhoven JA, Meulenberg JM, Hayden MR (2006)
Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation
Hum Gene Therapy 17: 487
Nierman MC, Rip J, Twisk J, Meulenberg JJ, Kastelein JJ, Stroes ES, Kuivenhoven JA (2005)
Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice
Neth J Med 63: 14
Nierman MC, Prinsen BH, Rip J, Veldman RJ, Kuivenhoven JA, Kastelein JJ, de Sain-van der Velden MG, Stroes ES (2005)
Enhanced conversion of triglyceride-rich lipoproteins and increased low-density lipoprotein removal in LPLS447X carriers
Arterioscler Thromb Vasc Biol 25: 2410
Nierman MC, Rip J, Kuivenhoven JA, van Raalte DH, Hutten BA, Sakai N, Kastelein JJ, Stroes ES (2005)
Carriers of the frequent lipoprotein lipase S447X variant exhibit enhanced postprandial apoprotein B-48 clearance
Metabolism 54: 1499
Rip J, Nierman MC, Sierts JA, Petersen W, Van den Oever K, Van Raalte D, Ross CJ, Hayden MR, Bakker AC, Dijkhuizen P, Hermens WT, Twisk J, Stroes E, Kastelein JJ, Kuivenhoven JA, Meulenberg JM (2005)
Gene therapy for lipoprotein lipase deficiency: working toward clinical application
Hum Gene Therapy 16: 1276
Ross CJ, Liu G, Kuivenhoven JA, Twisk J, Rip J, van Dop W, Excoffon KJ, Lewis SM, Kastelein JJ, Hayden MR (2005)
Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation
Arterioscler Thromb Vasc Biol 25: 2143
Boer JM, Kuivenhoven JA, Feskens EJ, Schouten EG, Havekes LM, Seidell JC, Kastelein JJ, Kromhout D (1999)
Physical activity modulates the effect of a lipoprotein lipase mutation (D9N) on plasma lipids and lipoproteins
Clin Genet 56: 158
Groenemeijer BE, Hallman MD, Reymer PW, Gagne E, Kuivenhoven JA, Bruin T, Jansen H, Lie KI, Bruschke AV, Boerwinkle E, Hayden MR, Kastelein JJ (1997)
Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients. The Ser447-stop substitution in the lipoprotein lipase gene. REGRESS Study Group
Circulation 95: 2628
Kuivenhoven JA, Weibusch H, Pritchard PH, Funke H, Benne R, Assmann G, Kastelein JJ (1996)
An intronic mutation in a lariat branchpoint sequence is a direct cause of an inherited human disorder (fish-eye disease)
J Clinical Investigation 98: 358
Kuivenhoven JA, Stalenhoef AF, Hill JS, Demacker PN, Errami A, Kastelein JJ, Pritchard PH (1996)
Two novel molecular defects in the LCAT gene are associated with fish eye disease
Arterioscler Thromb Vasc Biol 16: 294
Kuivenhoven JA, van Voorst tot Voorst EJ, Wiebusch H, Marcovina SM, Funke H, Assmann G, Pritchard PH, Kastelein JJ (1995)
A unique genetic and biochemical presentation of fish-eye disease
J Clinical Investigation 96: 2783
Kastelein JJ, Pritchard PH, Erkelens DW, Kuivenhoven JA, Albers JJ, Frohlich JJ (1992)
Familial high-density-lipoprotein deficiency causing corneal opacities (fish eye disease) in a family of Dutch descent
J Intern Med 231: 413