Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism.
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| Title: | Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. |
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| Authors: | Colonna MB; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Moss T; Greenwood Genetic Center, Greenwood, SC 29646, USA., Mokashi S; Greenwood Genetic Center, Greenwood, SC 29646, USA., Srikanth S; Greenwood Genetic Center, Greenwood, SC 29646, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC 29646, USA., Foley JR; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA., Skinner C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Lichty A; Greenwood Genetic Center, Greenwood, SC 29646, USA., Kocur A; Greenwood Genetic Center, Greenwood, SC 29646, USA., Wood T; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Stewart TM; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA., Casero RA Jr; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA., Flanagan-Steet H; Greenwood Genetic Center, Greenwood, SC 29646, USA., Edison AS; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Steet R; Greenwood Genetic Center, Greenwood, SC 29646, USA. |
| Source: | Human molecular genetics [Hum Mol Genet] 2023 Feb 19; Vol. 32 (5), pp. 732-744. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| Journal Info: | Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1460-2083 |
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| DOI: | 10.1093/hmg/ddac226 |
