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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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 36067040 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Colonna+MB%22">Colonna MB</searchLink>; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.<br /><searchLink fieldCode="AU" term="%22Moss+T%22">Moss T</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Mokashi+S%22">Mokashi S</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Srikanth+S%22">Srikanth S</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Jones+JR%22">Jones JR</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Foley+JR%22">Foley JR</searchLink>; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.<br /><searchLink fieldCode="AU" term="%22Skinner+C%22">Skinner C</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Lichty+A%22">Lichty A</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Kocur+A%22">Kocur A</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Wood+T%22">Wood T</searchLink>; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.<br /><searchLink fieldCode="AU" term="%22Stewart+TM%22">Stewart TM</searchLink>; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.<br /><searchLink fieldCode="AU" term="%22Casero+RA+Jr%22">Casero RA Jr</searchLink>; Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine; Baltimore, MD 21287, USA.<br /><searchLink fieldCode="AU" term="%22Flanagan-Steet+H%22">Flanagan-Steet H</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Edison+AS%22">Edison AS</searchLink>; Complex Carbohydrate Research Center, University of Georgia, Athens, GA 30602, USA.<br /><searchLink fieldCode="AU" term="%22Lyons+MJ%22">Lyons MJ</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA.<br /><searchLink fieldCode="AU" term="%22Steet+R%22">Steet R</searchLink>; Greenwood Genetic Center, Greenwood, SC 29646, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229208958%22">Human molecular genetics</searchLink> [Hum Mol Genet] 2023 Feb 19; Vol. 32 (5), pp. 732-744. – Name: TypePub Label: Publication Type Group: TypPub Data: 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. – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22IRL+Press+at+Oxford+University+Press%22">IRL Press at Oxford University Press </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9208958 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>1460-2083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209646906%22">09646906 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mol Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=36067040 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/hmg/ddac226 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 732 Titles: – TitleFull: Functional assessment of homozygous ALDH18A1 variants reveals alterations in amino acid and antioxidant metabolism. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Colonna MB – PersonEntity: Name: NameFull: Moss T – PersonEntity: Name: NameFull: Mokashi S – PersonEntity: Name: NameFull: Srikanth S – PersonEntity: Name: NameFull: Jones JR – PersonEntity: Name: NameFull: Foley JR – PersonEntity: Name: NameFull: Skinner C – PersonEntity: Name: NameFull: Lichty A – PersonEntity: Name: NameFull: Kocur A – PersonEntity: Name: NameFull: Wood T – PersonEntity: Name: NameFull: Stewart TM – PersonEntity: Name: NameFull: Casero RA Jr – PersonEntity: Name: NameFull: Flanagan-Steet H – PersonEntity: Name: NameFull: Edison AS – PersonEntity: Name: NameFull: Lyons MJ – PersonEntity: Name: NameFull: Steet R IsPartOfRelationships: – BibEntity: Dates: – D: 19 M: 02 Text: 2023 Feb 19 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 1460-2083 Numbering: – Type: volume Value: 32 – Type: issue Value: 5 Titles: – TitleFull: Human molecular genetics Type: main |
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