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Congenital disorders of glycosylation with defective fucosylation

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Congenital disorders of glycosylation with defective fucosylation. / Hüllen, Andreas; Falkenstein, Kristina; Weigel, Corina; Huidekoper, Hidde; Naumann-Bartsch, Nora; Spenger, Johannes; Feichtinger, René G; Schaefers, Jacqueline; Frenz, Stephanie; Kotlarz, Daniel; Momen, Tooba; Khoshnevisan, Razieh; Riedhammer, Korbinian M; Santer, René; Herget, Theresia; Rennings, Alexander; Lefeber, Dirk J; Mayr, Johannes A; Thiel, Christian; Wortmann, Saskia B.

in: J INHERIT METAB DIS, Jahrgang 44, Nr. 6, 08.2021, S. 1441-1452.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Hüllen, A, Falkenstein, K, Weigel, C, Huidekoper, H, Naumann-Bartsch, N, Spenger, J, Feichtinger, RG, Schaefers, J, Frenz, S, Kotlarz, D, Momen, T, Khoshnevisan, R, Riedhammer, KM, Santer, R, Herget, T, Rennings, A, Lefeber, DJ, Mayr, JA, Thiel, C & Wortmann, SB 2021, 'Congenital disorders of glycosylation with defective fucosylation', J INHERIT METAB DIS, Jg. 44, Nr. 6, S. 1441-1452. https://doi.org/10.1002/jimd.12426

APA

Hüllen, A., Falkenstein, K., Weigel, C., Huidekoper, H., Naumann-Bartsch, N., Spenger, J., Feichtinger, R. G., Schaefers, J., Frenz, S., Kotlarz, D., Momen, T., Khoshnevisan, R., Riedhammer, K. M., Santer, R., Herget, T., Rennings, A., Lefeber, D. J., Mayr, J. A., Thiel, C., & Wortmann, S. B. (2021). Congenital disorders of glycosylation with defective fucosylation. J INHERIT METAB DIS, 44(6), 1441-1452. https://doi.org/10.1002/jimd.12426

Vancouver

Hüllen A, Falkenstein K, Weigel C, Huidekoper H, Naumann-Bartsch N, Spenger J et al. Congenital disorders of glycosylation with defective fucosylation. J INHERIT METAB DIS. 2021 Aug;44(6):1441-1452. https://doi.org/10.1002/jimd.12426

Bibtex

@article{87e34499df7e4d02993473edeab96c6c,
title = "Congenital disorders of glycosylation with defective fucosylation",
abstract = "Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.",
keywords = "Adolescent, Adult, Child, Child, Preschool, Congenital Disorders of Glycosylation/drug therapy, Female, Fibroblasts/metabolism, Fucose/therapeutic use, Glycoproteins, Glycosylation, Humans, Infant, Male, Monosaccharide Transport Proteins/genetics, Treatment Outcome, Young Adult",
author = "Andreas H{\"u}llen and Kristina Falkenstein and Corina Weigel and Hidde Huidekoper and Nora Naumann-Bartsch and Johannes Spenger and Feichtinger, {Ren{\'e} G} and Jacqueline Schaefers and Stephanie Frenz and Daniel Kotlarz and Tooba Momen and Razieh Khoshnevisan and Riedhammer, {Korbinian M} and Ren{\'e} Santer and Theresia Herget and Alexander Rennings and Lefeber, {Dirk J} and Mayr, {Johannes A} and Christian Thiel and Wortmann, {Saskia B}",
note = "{\textcopyright} 2021 SSIEM.",
year = "2021",
month = aug,
doi = "10.1002/jimd.12426",
language = "English",
volume = "44",
pages = "1441--1452",
journal = "J INHERIT METAB DIS",
issn = "0141-8955",
publisher = "Springer Netherlands",
number = "6",

}

RIS

TY - JOUR

T1 - Congenital disorders of glycosylation with defective fucosylation

AU - Hüllen, Andreas

AU - Falkenstein, Kristina

AU - Weigel, Corina

AU - Huidekoper, Hidde

AU - Naumann-Bartsch, Nora

AU - Spenger, Johannes

AU - Feichtinger, René G

AU - Schaefers, Jacqueline

AU - Frenz, Stephanie

AU - Kotlarz, Daniel

AU - Momen, Tooba

AU - Khoshnevisan, Razieh

AU - Riedhammer, Korbinian M

AU - Santer, René

AU - Herget, Theresia

AU - Rennings, Alexander

AU - Lefeber, Dirk J

AU - Mayr, Johannes A

AU - Thiel, Christian

AU - Wortmann, Saskia B

N1 - © 2021 SSIEM.

PY - 2021/8

Y1 - 2021/8

N2 - Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

AB - Fucosylation is essential for intercellular and intracellular recognition, cell-cell interaction, fertilization, and inflammatory processes. Only five types of congenital disorders of glycosylation (CDG) related to an impaired fucosylation have been described to date: FUT8-CDG, FCSK-CDG, POFUT1-CDG SLC35C1-CDG, and the only recently described GFUS-CDG. This review summarizes the clinical findings of all hitherto known 25 patients affected with those defects with regard to their pathophysiology and genotype. In addition, we describe five new patients with novel variants in the SLC35C1 gene. Furthermore, we discuss the efficacy of fucose therapy approaches within the different defects.

KW - Adolescent

KW - Adult

KW - Child

KW - Child, Preschool

KW - Congenital Disorders of Glycosylation/drug therapy

KW - Female

KW - Fibroblasts/metabolism

KW - Fucose/therapeutic use

KW - Glycoproteins

KW - Glycosylation

KW - Humans

KW - Infant

KW - Male

KW - Monosaccharide Transport Proteins/genetics

KW - Treatment Outcome

KW - Young Adult

U2 - 10.1002/jimd.12426

DO - 10.1002/jimd.12426

M3 - SCORING: Journal article

C2 - 34389986

VL - 44

SP - 1441

EP - 1452

JO - J INHERIT METAB DIS

JF - J INHERIT METAB DIS

SN - 0141-8955

IS - 6

ER -