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Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism.
Biochim Biophys Acta Mol Basis Dis. 2019 Dec 1;1865(12):165538. doi: 10.1016/j.bbadis.2019.165538. Epub 2019 Aug 23.
Biochim Biophys Acta Mol Basis Dis. 2019.
PMID: 31449969
Free PMC article.
Diverse mitochondrial abnormalities in a new cellular model of TAFFAZZIN deficiency are remediated by cardiolipin-interacting small molecules.
Anzmann AF, Sniezek OL, Pado A, Busa V, Vaz FM, Kreimer SD, DeVine LR, Cole RN, Le A, Kirsch BJ, Claypool SM, Vernon HJ.
Anzmann AF, et al.
J Biol Chem. 2021 Sep;297(3):101005. doi: 10.1016/j.jbc.2021.101005. Epub 2021 Jul 24.
J Biol Chem. 2021.
PMID: 34314685
Free PMC article.
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Cardiolipin's Remodeling Rules Revealed: The Role of the Cellular Lipidome.
Sniezek OL, Anzmann AF, Claypool SM, Vernon HJ.
Sniezek OL, et al. Among authors: anzmann af.
Cell Rep. 2020 Mar 24;30(12):3949-3950. doi: 10.1016/j.celrep.2020.03.010.
Cell Rep. 2020.
PMID: 32209457
Free article.
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Increased expression of anion transporter SLC26A9 delays diabetes onset in cystic fibrosis.
Lam AN, Aksit MA, Vecchio-Pagan B, Shelton CA, Osorio DL, Anzmann AF, Goff LA, Whitcomb DC, Blackman SM, Cutting GR.
Lam AN, et al. Among authors: anzmann af.
J Clin Invest. 2020 Jan 2;130(1):272-286. doi: 10.1172/JCI129833.
J Clin Invest. 2020.
PMID: 31581148
Free PMC article.
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Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
Sharma N, Evans TA, Pellicore MJ, Davis E, Aksit MA, McCague AF, Joynt AT, Lu Z, Han ST, Anzmann AF, Lam AN, Thaxton A, West N, Merlo C, Gottschalk LB, Raraigh KS, Sosnay PR, Cotton CU, Cutting GR.
Sharma N, et al. Among authors: anzmann af.
PLoS Genet. 2018 Nov 16;14(11):e1007723. doi: 10.1371/journal.pgen.1007723. eCollection 2018 Nov.
PLoS Genet. 2018.
PMID: 30444886
Free PMC article.
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