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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Citations
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Recent Articles
11.
McCorvie T, Loria P, Tu M, Han S, Shrestha L, Froese D, et al.
Nat Struct Mol Biol
. 2022 Jul;
29(7):628-638.
PMID: 35835870
Glycogen synthase (GYS1) is the central enzyme in muscle glycogen biosynthesis. GYS1 activity is inhibited by phosphorylation of its amino (N) and carboxyl (C) termini, which is relieved by allosteric...
12.
Kiessling E, Peters F, Ebner L, Merolla L, Samardzija M, Baumgartner M, et al.
Biochim Biophys Acta Gen Subj
. 2022 May;
1866(9):130175.
PMID: 35636712
The MMACHC gene encodes for an enzyme involved in intracellular vitamin B metabolism, and autosomal recessive defects in MMACHC represent the most common disorder of intracellular vitamin B metabolism. Recent...
13.
Oussalah A, Siblini Y, Hergalant S, Chery C, Rouyer P, Cavicchi C, et al.
Clin Epigenetics
. 2022 Apr;
14(1):52.
PMID: 35440018
Background: epi-cblC is a recently discovered inherited disorder of intracellular vitamin B metabolism associating hematological, neurological, and cardiometabolic outcomes. It is produced by an epimutation at the promoter common to...
14.
Forny P, Plessl T, Frei C, Burer C, Froese D, Baumgartner M
Hum Genet
. 2021 Nov;
141(7):1253-1267.
PMID: 34796408
Pathogenic variants in MMAB cause cblB-type methylmalonic aciduria, an autosomal-recessive disorder of propionate metabolism. MMAB encodes ATP:cobalamin adenosyltransferase, using ATP and cob(I)alamin to create 5'-deoxyadenosylcobalamin (AdoCbl), the cofactor of methylmalonyl-CoA...
15.
Luciani A, Denley M, Govers L, Sorrentino V, Froese D
Cell Mol Life Sci
. 2021 Sep;
78(21-22):6851-6867.
PMID: 34524466
Mitochondria-the intracellular powerhouse in which nutrients are converted into energy in the form of ATP or heat-are highly dynamic, double-membraned organelles that harness a plethora of cellular functions that sustain...
16.
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, et al.
Am J Hum Genet
. 2021 Jul;
108(7):1283-1300.
PMID: 34214447
Most rare clinical missense variants cannot currently be classified as pathogenic or benign. Deficiency in human 5,10-methylenetetrahydrofolate reductase (MTHFR), the most common inherited disorder of folate metabolism, is caused primarily...
17.
Kiessling E, Notzli S, Todorova V, Forny M, Baumgartner M, Samardzija M, et al.
Biochim Biophys Acta Mol Basis Dis
. 2021 Jun;
1867(10):166201.
PMID: 34147638
Combined methylmalonic aciduria with homocystinuria (cblC type) is a rare disease caused by mutations in the MMACHC gene. MMACHC encodes an enzyme crucial for intracellular vitamin B metabolism, leading to...
18.
Lucienne M, Mathis D, Perkins N, Fingerhut R, Baumgartner M, Froese D
JIMD Rep
. 2021 Mar;
58(1):44-51.
PMID: 33728246
Methylmalonyl-CoA mutase (MMUT) is part of the propionyl-CoA catabolic pathway, responsible for the breakdown of branched-chain amino acids, odd-chain fatty acids and the side-chain of cholesterol. Patients with deficient activity...
19.
Bezerra G, Holenstein A, Foster W, Xie B, Hicks K, Burer C, et al.
Biochimie
. 2021 Jan;
183:100-107.
PMID: 33476699
The folate and methionine cycles, constituting one-carbon metabolism, are critical pathways for cell survival. Intersecting these two cycles, 5,10-methylenetetrahydrofolate reductase (MTHFR) directs one-carbon units from the folate to methionine cycle,...
20.
Makris G, Lauber M, Rufenacht V, Gemperle C, Diez-Fernandez C, Caldovic L, et al.
Biochimie
. 2020 Dec;
183:89-99.
PMID: 33309754
Despite biochemical and genetic testing being the golden standards for identification of proximal urea cycle disorders (UCDs), genotype-phenotype correlations are often unclear. Co-occurring partial defects affecting more than one gene...