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Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations. / van den Boogert, Marjolein A W; Crunelle, Cleo L; Ali, Lubna; Larsen, Lars E; Kuil, Sacha D; Levels, Johannes H M; Schimmel, Alinda W M; Konstantopoulou, Vassiliki; Guerin, Maryse; Kuivenhoven, Jan Albert; Dallinga-Thie, Geesje M; Stroes, Erik S G; Lefeber, Dirk J; Holleboom, Adriaan G.

In: Journal of Inherited Metabolic Disease, Vol. 43, No. 3, 2020, p. 611-617.

Research output: Contribution to journalArticle

Harvard

van den Boogert, MAW, Crunelle, CL, Ali, L, Larsen, LE, Kuil, SD, Levels, JHM, Schimmel, AWM, Konstantopoulou, V, Guerin, M, Kuivenhoven, JA, Dallinga-Thie, GM, Stroes, ESG, Lefeber, DJ & Holleboom, AG 2020, 'Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations', Journal of Inherited Metabolic Disease, vol. 43, no. 3, pp. 611-617. https://doi.org/10.1002/jimd.12200

APA

van den Boogert, M. A. W., Crunelle, C. L., Ali, L., Larsen, L. E., Kuil, S. D., Levels, J. H. M., ... Holleboom, A. G. (2020). Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations. Journal of Inherited Metabolic Disease, 43(3), 611-617. https://doi.org/10.1002/jimd.12200

Vancouver

van den Boogert MAW, Crunelle CL, Ali L, Larsen LE, Kuil SD, Levels JHM et al. Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations. Journal of Inherited Metabolic Disease. 2020;43(3):611-617. https://doi.org/10.1002/jimd.12200

Author

van den Boogert, Marjolein A W ; Crunelle, Cleo L ; Ali, Lubna ; Larsen, Lars E ; Kuil, Sacha D ; Levels, Johannes H M ; Schimmel, Alinda W M ; Konstantopoulou, Vassiliki ; Guerin, Maryse ; Kuivenhoven, Jan Albert ; Dallinga-Thie, Geesje M ; Stroes, Erik S G ; Lefeber, Dirk J ; Holleboom, Adriaan G. / Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations. In: Journal of Inherited Metabolic Disease. 2020 ; Vol. 43, No. 3. pp. 611-617.

BibTeX

@article{70ad2a67f4bb4b389f2d377d570b89fe,
title = "Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations",
abstract = "The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caused by a mutation in B4GALT1 with defective N-linked glycosylation. We studied plasma lipids, cholesteryl ester transfer protein (CETP) glyco-isoforms with isoelectric focusing followed by a western blot and CETP activity in three known B4GALT1-CDG patients and compared them with 11 age- and gender-matched, healthy controls. B4GALT1-CDG patients have significantly lowered non-high density lipoprotein cholesterol (HDL-c) and total cholesterol to HDL-c ratio compared with controls and larger HDL particles. Plasma CETP was hypoglycosylated and less active in B4GALT1-CDG patients compared to matched controls. Our study provides insight into the role of protein glycosylation in human lipoprotein homeostasis. The hypogalactosylated, hypo-active CETP found in patients with B4GALT1-CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1-CDG have large HDL particles probably due to hypogalactosylated, hypo-active CETP.",
keywords = "B4GALT1, CDG, CETP, HDL, LDL, glycosylation, lipids",
author = "{van den Boogert}, {Marjolein A W} and Crunelle, {Cleo L} and Lubna Ali and Larsen, {Lars E} and Kuil, {Sacha D} and Levels, {Johannes H M} and Schimmel, {Alinda W M} and Vassiliki Konstantopoulou and Maryse Guerin and Kuivenhoven, {Jan Albert} and Dallinga-Thie, {Geesje M} and Stroes, {Erik S G} and Lefeber, {Dirk J} and Holleboom, {Adriaan G}",
note = "{\circledC} 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.",
year = "2020",
doi = "10.1002/jimd.12200",
language = "English",
volume = "43",
pages = "611--617",
journal = "Journal of Inherited Metabolic Disease",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "3",

}

RIS

TY - JOUR

T1 - Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations

AU - van den Boogert, Marjolein A W

AU - Crunelle, Cleo L

AU - Ali, Lubna

AU - Larsen, Lars E

AU - Kuil, Sacha D

AU - Levels, Johannes H M

AU - Schimmel, Alinda W M

AU - Konstantopoulou, Vassiliki

AU - Guerin, Maryse

AU - Kuivenhoven, Jan Albert

AU - Dallinga-Thie, Geesje M

AU - Stroes, Erik S G

AU - Lefeber, Dirk J

AU - Holleboom, Adriaan G

N1 - © 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.

PY - 2020

Y1 - 2020

N2 - The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caused by a mutation in B4GALT1 with defective N-linked glycosylation. We studied plasma lipids, cholesteryl ester transfer protein (CETP) glyco-isoforms with isoelectric focusing followed by a western blot and CETP activity in three known B4GALT1-CDG patients and compared them with 11 age- and gender-matched, healthy controls. B4GALT1-CDG patients have significantly lowered non-high density lipoprotein cholesterol (HDL-c) and total cholesterol to HDL-c ratio compared with controls and larger HDL particles. Plasma CETP was hypoglycosylated and less active in B4GALT1-CDG patients compared to matched controls. Our study provides insight into the role of protein glycosylation in human lipoprotein homeostasis. The hypogalactosylated, hypo-active CETP found in patients with B4GALT1-CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1-CDG have large HDL particles probably due to hypogalactosylated, hypo-active CETP.

AB - The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caused by a mutation in B4GALT1 with defective N-linked glycosylation. We studied plasma lipids, cholesteryl ester transfer protein (CETP) glyco-isoforms with isoelectric focusing followed by a western blot and CETP activity in three known B4GALT1-CDG patients and compared them with 11 age- and gender-matched, healthy controls. B4GALT1-CDG patients have significantly lowered non-high density lipoprotein cholesterol (HDL-c) and total cholesterol to HDL-c ratio compared with controls and larger HDL particles. Plasma CETP was hypoglycosylated and less active in B4GALT1-CDG patients compared to matched controls. Our study provides insight into the role of protein glycosylation in human lipoprotein homeostasis. The hypogalactosylated, hypo-active CETP found in patients with B4GALT1-CDG indicates a role of protein galactosylation in regulating plasma HDL and LDL. Patients with B4GALT1-CDG have large HDL particles probably due to hypogalactosylated, hypo-active CETP.

KW - B4GALT1

KW - CDG

KW - CETP

KW - HDL

KW - LDL

KW - glycosylation

KW - lipids

UR - http://www.scopus.com/inward/record.url?scp=85077885059&partnerID=8YFLogxK

U2 - 10.1002/jimd.12200

DO - 10.1002/jimd.12200

M3 - Article

C2 - 31800099

VL - 43

SP - 611

EP - 617

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

IS - 3

ER -

ID: 48990187