Clara D M van Karnebeek
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Explore the profile of Clara D M van Karnebeek including associated specialties, affiliations and a list of published articles.
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146
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2313
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Recent Articles
11.
Dixon M, Millington C, Bernstein L, Coughlin 2nd C, Drumm M, Gaughan S, et al.
JIMD Rep
. 2024 May;
65(3):188-203.
PMID: 38736635
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management. In this follow-on,...
12.
van Karnebeek C, Tarailo-Graovac M, Leen R, Meinsma R, Correard S, Jansen-Meijer J, et al.
Genet Med
. 2024 Feb;
26(6):101104.
PMID: 38411040
Purpose: The functionality of many cellular proteins depends on cofactors; yet, they have only been implicated in a minority of Mendelian diseases. Here, we describe the first 2 inherited disorders...
13.
den Hollander B, Brands M, Nijhuis I, Doude van Troostwijk L, van Essen P, Hofsteenge G, et al.
Mol Genet Metab
. 2024 Feb;
142(1):108347.
PMID: 38401382
Rationale: Lipoprotein lipase (LPL) deficiency, a rare inherited metabolic disorder, is characterized by high triglyceride (TG) levels and life-threatening acute pancreatitis. Current treatment for pediatric patients involves a lifelong severely...
14.
Hayward B, Kumari D, Santra S, van Karnebeek C, van Kuilenburg A, Usdin K
bioRxiv
. 2024 Jan;
PMID: 38260514
The Repeat Expansion Diseases (REDs) arise from the expansion of a disease-specific short tandem repeat (STR). Different REDs differ with respect to the repeat involved, the cells that are most...
15.
Broeks M, Meijer N, Westland D, Bosma M, Gerrits J, German H, et al.
Cell Rep
. 2023 Aug;
42(9):113043.
PMID: 37647199
The malate-aspartate shuttle (MAS) is a redox shuttle that transports reducing equivalents across the inner mitochondrial membrane while recycling cytosolic NADH to NAD. We genetically disrupted each MAS component to...
16.
Ferreira E, Buijs M, Wijngaard R, Daams J, Datema M, Engelen M, et al.
Front Neurol
. 2023 Aug;
14:1206106.
PMID: 37560457
Background/objectives: The timely diagnosis of inherited metabolic disorders (IMD) is essential for initiating treatment, prognostication and genetic testing of relatives. Recognition of IMD in adults is difficult, because phenotypes are...
17.
Schuurmans I, Wu K, van Karnebeek C, Nadif Kasri N, Garanto A
Stem Cell Res
. 2023 Aug;
71:103173.
PMID: 37540965
Biallelic pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE). ALDH7A1 encodes for the third enzyme of the lysine catabolism pathway. In this study a human isogenic ALDH7A1 knock-out...
18.
Ciapaite J, van Roermund C, Bosma M, Gerrits J, Houten S, Ijlst L, et al.
J Biol Chem
. 2023 Jul;
299(9):105047.
PMID: 37451483
Recently, biallelic variants in PLPBP coding for pyridoxal 5'-phosphate homeostasis protein (PLPHP) were identified as a novel cause of early-onset vitamin B-dependent epilepsy. The molecular function and precise role of...
19.
Da Silva A, Dort J, Orfi Z, Pan X, Huang S, Kho I, et al.
Sci Adv
. 2023 Jun;
9(26):eade6308.
PMID: 37390204
Deleterious variants in acetylneuraminate pyruvate lyase (NPL) cause skeletal myopathy and cardiac edema in humans and zebrafish, but its physiological role remains unknown. We report generation of mouse models of...
20.
den Hollander B, Brands M, de Boer L, Haaxma C, Lengyel A, van Essen P, et al.
J Inherit Metab Dis
. 2023 Jun;
46(5):956-971.
PMID: 37340906
NANS-CDG is a congenital disorder of glycosylation (CDG) caused by biallelic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. It presents with intellectual developmental disorder...