SLNSW-Mitochondrial oxodicarboxylate carrier deficiency...-TN_cdi_proquest_journals_2127190995

Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Full title: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

Author/creator: Boczonadi, Veronika, King, Martin S, Smith, Anthony C, Olahova, Monika, Bansagi, Boglarka, Roos, Andreas, Eyassu, Filmon, Borchers, Christoph, Ramesh, Venkateswaran, Lochmüller, Hanns, Polvikoski, Tuomo, Whittaker, Roger G, Pyle, Angela, Griffin, Helen, Taylor, Robert W, Chinnery, Patrick F, Robinson, Alan J, Kunji, Edmund R S, Horvath, Rita.

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Record Identifier: TN_cdi_proquest_journals_2127190995

Language: English

Formats: Articles

Publishers: United States: Elsevier Limited

Permalink: https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2127190995

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    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

    Record identifier

    TN_cdi_proquest_journals_2127190995

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2127190995

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    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2127190995

    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

    Full title

    Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease

    Author / Creator

    Boczonadi, Veronika ; King, Martin S ; Smith, Anthony C ; Olahova, Monika ; Bansagi, Boglarka ; Roos, Andreas ; Eyassu, Filmon ; Borchers, Christoph ; Ramesh, Venkateswaran ; Lochmüller, Hanns ; Polvikoski, Tuomo ; Whittaker, Roger G ; Pyle, Angela ; Griffin, Helen ; Taylor, Robert W ; Chinnery, Patrick F ; Robinson, Alan J ; Kunji, Edmund R S ; Horvath, Rita

    Publisher

    United States: Elsevier Limited

    Journal title

    Genetics in medicine, 2018, Vol.20 (10), p.1224-1235

    Record Identifier

    TN_cdi_proquest_journals_2127190995

    Language

    English

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    Articles

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    Acids Adipates - metabolism Adipates - pharmacology Apoptosis - drug effects Atrophy Cell Line Dicarboxylic Acid Transporters - genetics Dicarboxylic Acid Transporters - metabolism DNA, Mitochondrial - genetics DNA, Mitochondrial - metabolism Fibroblasts - drug effects Homozygote Humans metabolite transport metabolomics Mitochondria - genetics Mitochondria - metabolism Mitochondrial DNA Mitochondrial Membrane Transport Proteins - genetics Mitochondrial Membrane Transport Proteins - metabolism mitochondrial respiratory chain deficiency Motor Neurons - drug effects Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - metabolism Muscular Atrophy, Spinal - physiopathology Mutation neural toxicity Pipecolic Acids - metabolism Quinolinic Acid - metabolism spinal motor atrophy

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    TN_cdi_proquest_journals_2127190995

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    https://collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2127190995

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