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Matthew P Wilson
Matthew P Wilson
在 kuleuven.be 的电子邮件经过验证
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Host-microbe co-metabolism dictates cancer drug efficacy in C. elegans
TA Scott, LM Quintaneiro, P Norvaisas, PP Lui, MP Wilson, KY Leung, ...
Cell 169 (3), 442-456. e18, 2017
2492017
Disorders affecting vitamin B6 metabolism
MP Wilson, B Plecko, PB Mills, PT Clayton
Journal of inherited metabolic disease 42 (4), 629-646, 2019
2102019
Mutations in PROSC disrupt cellular pyridoxal phosphate homeostasis and cause vitamin-B6-dependent epilepsy
N Darin, E Reid, L Prunetti, L Samuelsson, RA Husain, M Wilson, ...
The American Journal of Human Genetics 99 (6), 1325-1337, 2016
1502016
PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation
V Chelban, MP Wilson, J Warman Chardon, J Vandrovcova, MN Zanetti, ...
Annals of neurology 86 (2), 225-240, 2019
692019
An LC–MS/MS-Based Method for the Quantification of Pyridox (am) ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy
MP Wilson, EJ Footitt, A Papandreou, ML Uudelepp, R Pressler, ...
Analytical chemistry 89 (17), 8892-8900, 2017
322017
The evolving genetic landscape of congenital disorders of glycosylation
MP Wilson, G Matthijs
Biochimica et Biophysica Acta (BBA)-General Subjects 1865 (11), 129976, 2021
272021
Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy
AHA Mohamed-Ahmed, MP Wilson, M Albuera, T Chen, PB Mills, ...
Journal of Pharmacy and Pharmacology 69 (4), 480-488, 2017
242017
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking
MP Wilson, Z Durin, Ö Unal, BG Ng, T Marrecau, L Keldermans, E Souche, ...
Human molecular genetics 31 (15), 2571-2581, 2022
92022
SLC37A4‐CDG: Second patient
MP Wilson, D Quelhas, E Leão‐Teles, L Sturiale, D Rymen, L Keldermans, ...
JIMD reports 58 (1), 122-128, 2021
92021
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency
F del Caño‐Ochoa, BG Ng, A Rubio‐del‐Campo, S Mahajan, MP Wilson, ...
Journal of inherited metabolic disease 46 (6), 1170-1185, 2023
82023
Lack of NKG2D in MAGT1-deficient patients is caused by hypoglycosylation
E Blommaert, NA Cherepanova, F Staels, MP Wilson, R Gilmore, ...
Human Genetics 141 (7), 1279-1286, 2022
72022
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
MP Wilson, A Garanto, FP e Vairo, BG Ng, WK Ranatunga, M Ventouratou, ...
The American Journal of Human Genetics 108 (11), 2130-2144, 2021
72021
N-glycosylation as a eukaryotic protective mechanism against protein aggregation
R Duran-Romaña, B Houben, M De Vleeschouwer, N Louros, MP Wilson, ...
Science Advances 10 (5), eadk8173, 2024
62024
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
MP Wilson, T Kentache, CR Althoff, C Schulz, G de Bettignies, ...
Cell, 2024
32024
Assessment of urinary 6‐oxo‐pipecolic acid as a biomarker for ALDH7A1 deficiency
Y Khalil, E Footitt, R Vootukuri, MF Wempe, CR Coughlin, S Batzios, ...
Journal of Inherited Metabolic Disease, 2024
12024
The biochemical investigation of genetic disorders responsive to vitamin B6 supplementation
M Wilson
UCL (University College London), 2019
12019
The N-glycosylation defect in Lec5 and Lec9 CHO cells is caused by absence of the DHRSX gene
T Kentache, CR Althoff, F Caligiore, E Souche, C Schulz, J Graff, E Pieters, ...
bioRxiv, 2024.06. 18.599300, 2024
2024
Active site variants in</i> STT3A<//i> cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
MP Wilson, A Garanto, FPE Vairo, BG Ng, WK Ranatunga, M Ventouratou, ...
American Journal Of Human Genetics 108 (11), 2130-2144, 2021
2021
Pyridox (AM) ine 5'-phosphate oxidase activity in patients with vitamin b6 responsive epilepsy: Findings and the effect of the common p. r116q variant upon enzymatic activity
P Mills, P Gissen, P Clayton, M Wilson, E Footitt, A Papandreou, ...
Journal of Inborn Errors of Metabolism and Screening, 2017
2017
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