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Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Molecular Genetics and Metabolism(2022)10.1016/j.ymgme.2022.07.002Source: DataRank Database

Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation is a research paper published in Molecular Genetics and Metabolism (2022). On theSindex it has a DataRank of 0. It has been cited 2 times.

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Enrichment:Funding (8 grants)OA: greenTopics (41)IDs (PubMed, PMC)Annotations (2)

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Accessible (1/2)

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Authors (9)

Martina Magistrati ORCID,Joshua S. Shimony ORCID,Christopher D. Smyser ORCID,Seyed Ali Fatemi,Amena Smith Fine ORCID

Live enrichment

PubMed:35820270 PMC:PMC12465016

University of Washington

Grant: US4HD079123

IDDRC

Grant: U54NS115052

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Grant: P50 HD103525

NICHD NIH HHS

Grant: U54 HD079123

Ministero dell'Istruzione dell'Università e della Ricerca

Grant: unidentified

unidentified

Ministero dell’Istruzione, dell’Università e della Ricerca

Government of Italy Commission for the Selection of Excellence University Departments

National Institutes of Health

greenLicense: Elsevier TDM

repositoryhttps://pmc.ncbi.nlm.nih.gov/articles/PMC12465016/

publisherhttps://api.elsevier.com/content/article/PII:S1096719222003614?httpAccept=text/xml

publisherhttps://api.elsevier.com/content/article/PII:S1096719222003614?httpAccept=text/plain

https://doi.org/10.1016/j.ymgme.2022.07.002

https://pubmed.ncbi.nlm.nih.gov/35820270

Fields of Study

03 medical and health sciences0302 clinical medicine0502 economics and business05 social sciences

MeSH Terms

Brain StemSpinal CordHumansSaccharomyces cerevisiaeAtaxiaDisease ProgressionLactic AcidAspartate-tRNA LigaseSiblingsMutationAdolescentAdultLeukoencephalopathies

Keywords

LeukodystrophyMitochondrial DisorderAspartyl-trna SynthetaseLeukoencephalopathy With Brain Stem And Spinal Cord Involvement And Lactate ElevationDars2AdultSiblingAdolescentAspartate-tRNA Ligase610Saccharomyces cerevisiaeArticleLeukoencephalopathiesHumansLactic AcidAspartyl-tRNA synthetase; DARS2; Leukodystrophy; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; Mitochondrial disorder; Adolescent; Adult; Ataxia; Brain Stem; Disease Progression; Humans; Lactic Acid; Mutation; Saccharomyces cerevisiae; Siblings; Spinal Cord; Aspartate-tRNA Ligase; LeukoencephalopathiesSiblings500Spinal CordMutationDisease ProgressionAtaxiaHumanBrain Stem