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Quoted phrase not found in phrase index: "Multiple mitochondrial dysfunctions syndrome 3"
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Molecular Basis of Multiple Mitochondrial Dysfunctions Syndrome 2 Caused by CYS59TYR BOLA3 Mutation.
Saudino G, Suraci D, Nasta V, Ciofi-Baffoni S, Banci L. Saudino G, et al. Int J Mol Sci. 2021 May 3;22(9):4848. doi: 10.3390/ijms22094848. Int J Mol Sci. 2021. PMID: 34063696 Free PMC article.
Multiple mitochondrial dysfunctions syndrome (MMDS) is a rare neurodegenerative disorder associated with mutations in genes with a vital role in the biogenesis of mitochondrial [4Fe-4S] proteins. ...All these aspects allowed us to rationalize the uniqu …
Multiple mitochondrial dysfunctions syndrome (MMDS) is a rare neurodegenerative disorder associated with mutatio …
Understanding the Molecular Basis of the Multiple Mitochondrial Dysfunctions Syndrome 2: The Disease-Causing His96Arg Mutation of BOLA3.
Bargagna B, Banci L, Camponeschi F. Bargagna B, et al. Int J Mol Sci. 2023 Jul 21;24(14):11734. doi: 10.3390/ijms241411734. Int J Mol Sci. 2023. PMID: 37511493 Free PMC article.
Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia (MMDS2) is a severe disorder of mitochondrial energy metabolism, associated with biallelic mutations in the gene encoding for BOLA3, a protein with a not yet completely understood …
Multiple mitochondrial dysfunctions syndrome type 2 with hyperglycinemia (MMDS2) is a severe disorder of mitocho …
Clinical, radiological, biochemical and molecular characterization of a new case with multiple mitochondrial dysfunction syndrome due to IBA57: Lysine and tryptophan metabolites as potential biomarkers.
Wongkittichote P, Pantano C, Bogush E, Alves CAP, Hong X, He M, Demczko MM, Ganetzky RD, Goldstein A. Wongkittichote P, et al. Mol Genet Metab. 2023 Sep-Oct;140(1-2):107710. doi: 10.1016/j.ymgme.2023.107710. Epub 2023 Oct 20. Mol Genet Metab. 2023. PMID: 37903659
IBA57, along with ISCA1 and ISCA2, play a role in maturation of [4Fe-4S] clusters which are required for multiple mitochondrial enzymes including mitochondrial Complex I, Complex II, lipoic acid synthase, and aconitase. Pathogenic variants in IBA57 have been associated with mu …
IBA57, along with ISCA1 and ISCA2, play a role in maturation of [4Fe-4S] clusters which are required for multiple mitochondrial enzymes incl …
HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.
Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. Ferdinandusse S, et al. Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188. Orphanet J Rare Dis. 2013. PMID: 24299452 Free PMC article.
Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to multiple RC deficiencies, known as the multiple mitochondrial dysfunctions syndrome. METHODS: Two brothers born t …
Impaired biosynthesis of iron-sulphur clusters and lipoic acid can lead to pyruvate dehydrogenase complex (PDHc) deficiency in addition to m …