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Matthew P Wilson

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Articles 17
Citations 280
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Recent Articles
1.
Kentache T, Althoff C, Caligiore F, Souche E, Schulz C, Graff J, et al.
J Biol Chem . 2024 Oct; 300(12):107875. PMID: 39395802
Glycosylation-deficient Chinese hamster ovary cell lines have been instrumental in the discovery of N-glycosylation machinery. Yet, the molecular causes of the glycosylation defects in the Lec5 and Lec9 mutants have...
2.
Khalil Y, Footitt E, Vootukuri R, Wempe M, Coughlin 2nd C, Batzios S, et al.
J Inherit Metab Dis . 2024 Jul; 48(1):e12783. PMID: 39038845
ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in ALDH7A1, a gene in the...
3.
Kentache T, Althoff C, Caligiore F, Souche E, Schulz C, Graff J, et al.
bioRxiv . 2024 Jul; PMID: 38948797
Glycosylation-deficient Chinese hamster ovary (CHO) cell lines have been instrumental in the discovery of N-glycosylation machinery. Yet, the molecular causes of the glycosylation defects in the Lec5 and Lec9 mutants...
4.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell . 2024 Jun; 187(14):3784. PMID: 38870945
No abstract available.
5.
Wilson M, Kentache T, Althoff C, Schulz C, de Bettignies G, Cabrera G, et al.
Cell . 2024 May; 187(14):3585-3601.e22. PMID: 38821050
Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3....
6.
Duran-Romana R, Houben B, De Vleeschouwer M, Louros N, Wilson M, Matthijs G, et al.
Sci Adv . 2024 Jan; 10(5):eadk8173. PMID: 38295165
The tendency for proteins to form aggregates is an inherent part of every proteome and arises from the self-assembly of short protein segments called aggregation-prone regions (APRs). While posttranslational modifications...
7.
Del Cano-Ochoa F, Ng B, Rubio-Del-Campo A, Mahajan S, Wilson M, Vilar M, et al.
J Inherit Metab Dis . 2023 Aug; 46(6):1170-1185. PMID: 37540500
CAD is a large, 2225 amino acid multienzymatic protein required for de novo pyrimidine biosynthesis. Pathological CAD variants cause a developmental and epileptic encephalopathy which is highly responsive to uridine...
8.
Wilson M, Durin Z, Unal O, Ng B, Marrecau T, Keldermans L, et al.
Hum Mol Genet . 2022 Mar; 31(15):2571-2581. PMID: 35262690
The transmembrane domain recognition complex (TRC) pathway is required for the insertion of C-terminal tail-anchored (TA) proteins into the lipid bilayer of specific intracellular organelles such as the endoplasmic reticulum...
9.
Blommaert E, Cherepanova N, Staels F, Wilson M, Gilmore R, Schrijvers R, et al.
Hum Genet . 2022 Feb; 141(7):1279-1286. PMID: 35182234
Mutations in the X-linked gene MAGT1 cause a Congenital Disorder of Glycosylation (CDG), with two distinct clinical phenotypes: a primary immunodeficiency (XMEN disorder) versus intellectual and developmental disability. It was...
10.
Wilson M, Garanto A, Pinto E Vairo F, Ng B, Ranatunga W, Ventouratou M, et al.
Am J Hum Genet . 2021 Oct; 108(11):2130-2144. PMID: 34653363
Congenital disorders of glycosylation (CDGs) form a group of rare diseases characterized by hypoglycosylation. We here report the identification of 16 individuals from nine families who have either inherited or...