D Sean Froese
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Explore the profile of D Sean Froese including associated specialties, affiliations and a list of published articles.
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Recent Articles
1.
Denley M, Straub M, Marcionelli G, Gura M, Penton D, Delvendahl I, et al.
Commun Biol
. 2025 Mar;
8(1):410.
PMID: 40069408
Methylmalonic aciduria (MMA) is an inborn error of metabolism resulting in loss of function of the enzyme methylmalonyl-CoA mutase (MMUT). Despite acute and persistent neurological symptoms, the pathogenesis of MMA...
2.
Mozun R, Belle F, Agostini A, Baumgartner M, Fellay J, Forrest C, et al.
BMJ Open
. 2024 Dec;
14(12):e091884.
PMID: 39725440
Introduction: Children represent a large and vulnerable patient group. However, the evidence base for most paediatric diagnostic and therapeutic procedures remains limited or is often inferred from adults. There is...
3.
Buchler L, Blomgren L, Burer C, Zanotelli V, Froese D
Biochimie
. 2024 Nov;
230:138-146.
PMID: 39571719
5,10-Methylenetetrahydrofolate reductase (MTHFR) is a folate cycle enzyme required for the intracellular synthesis of methionine. MTHFR was previously shown to be partially phosphorylated at 16 residues, which was abrogated by...
4.
Myszkowska J, Klotz K, Leandro P, Kruger W, Froese D, Baumgartner M, et al.
Free Radic Biol Med
. 2024 Jul;
223:281-295.
PMID: 39067625
Classical homocystinuria is a rare disease caused by mutations in cystathionine β-synthase (CBS) gene (OMIM 613381). CBS catalyzes the first step of the transsulfuration pathway that converts homocysteine (Hcy) into...
5.
Blomgren L, Huber M, Mackinnon S, Burer C, Basle A, Yue W, et al.
Nat Commun
. 2024 Apr;
15(1):3248.
PMID: 38622112
5,10-methylenetetrahydrofolate reductase (MTHFR) commits folate-derived one-carbon units to generate the methyl-donor S-adenosyl-L-methionine (SAM). Eukaryotic MTHFR appends to the well-conserved catalytic domain (CD) a unique regulatory domain (RD) that confers feedback...
6.
Mathis D, Koch J, Koller S, Sauter K, Fluck C, Uldry A, et al.
Mol Genet Metab Rep
. 2024 Mar;
39:101066.
PMID: 38425868
Synopsis: This study reveals altered expression of mitochondrial pathways including the tricarboxylic acid cycle and changes in metabolite profiles in malate dehydrogenase 2 deficiency and provides the molecular basis for...
7.
Lucienne M, Gerlini R, Rathkolb B, Calzada-Wack J, Forny P, Wueest S, et al.
Hum Mol Genet
. 2023 Jun;
32(17):2717-2734.
PMID: 37369025
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria, present unique challenges to energetic homeostasis by disrupting energy-producing pathways. To better understand global responses to energy shortage, we investigated a...
8.
Forny P, Bonilla X, Lamparter D, Shao W, Plessl T, Frei C, et al.
Nat Metab
. 2023 Jan;
5(1):80-95.
PMID: 36717752
Methylmalonic aciduria (MMA) is an inborn error of metabolism with multiple monogenic causes and a poorly understood pathogenesis, leading to the absence of effective causal treatments. Here we employ multi-layered...
9.
McCorvie T, Ferreira D, Yue W, Froese D
J Inherit Metab Dis
. 2023 Jan;
46(3):406-420.
PMID: 36680553
Vitamin B (cobalamin, Cbl) is required as a cofactor by two human enzymes, 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR) and methylmalonyl-CoA mutase (MMUT). Within the body, a vast array of transporters, enzymes and...
10.
Ramon C, Traversi F, Burer C, Froese D, Stelling J
J Inherit Metab Dis
. 2022 Nov;
46(3):421-435.
PMID: 36371683
Methylmalonyl-coenzyme A (CoA) mutase (MMUT)-type methylmalonic aciduria is a rare inherited metabolic disease caused by the loss of function of the MMUT enzyme. Patients develop symptoms resembling those of primary...