(en) A. Alfares, L. D. Nunez, K. Al-Thihli et J. Mitchell, « Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype », Journal of Medical Genetics, vol. 48, no 9, , p. 602–605 (ISSN0022-2593 et 1468-6244, DOI10.1136/jmedgenet-2011-100230, lire en ligne).
(en) Alina Levtova, Paula J. Waters, Daniela Buhas et Sébastien Lévesque, « Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort », Journal of Inherited Metabolic Disease, vol. 42, no 1, , p. 107–116 (ISSN0141-8955 et 1573-2665, DOI10.1002/jimd.12032, lire en ligne).
(en) Zeinab Wehbe, Sidney Behringer, Khaled Alatibi et David Watkins, « The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism », Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol. 1864, no 11, , p. 1629–1643 (DOI10.1016/j.bbalip.2019.07.012, lire en ligne).
(en) NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston et Irini Manoli, « Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria », Nature Genetics, vol. 43, no 9, , p. 883–886 (ISSN1061-4036 et 1546-1718, PMID21841779, PMCID3163731, DOI10.1038/ng.908, lire en ligne).
(en) Lisa C. Sniderman, Marie Lambert, Robert Giguère et Christiane Auray-Blais, « Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program », The Journal of Pediatrics, vol. 134, no 6, , p. 675–680 (DOI10.1016/S0022-3476(99)70280-5, lire en ligne).
(en) Ping Wang, Jianbo Shu, Chunyu Gu et Xiaoli Yu, « Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients », Frontiers in Pediatrics, vol. 9, , p. 751895 (ISSN2296-2360, PMID34900860, PMCID8658908, DOI10.3389/fped.2021.751895, lire en ligne).
(en) A. Alfares, L. D. Nunez, K. Al-Thihli et J. Mitchell, « Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype », Journal of Medical Genetics, vol. 48, no 9, , p. 602–605 (ISSN0022-2593 et 1468-6244, DOI10.1136/jmedgenet-2011-100230, lire en ligne).
(en) A. R. Gregg, A. W. Warman, D. R. Thorburn et W. E. O'Brien, « Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: A case supporting multiple aetiologies », Journal of Inherited Metabolic Disease, vol. 21, no 4, , p. 382–390 (DOI10.1023/A:1005302607897).
(en) Andrzej Witkowski, Jennifer Thweatt et Stuart Smith, « Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis », Journal of Biological Chemistry, vol. 286, no 39, , p. 33729–33736 (PMID21846720, PMCID3190830, DOI10.1074/jbc.M111.291591, lire en ligne)
(en) Caitlyn E. Bowman, Susana Rodriguez, Ebru S. Selen Alpergin et Michelle G. Acoba, « The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency », Cell Chemical Biology, vol. 24, no 6, , p. 673–684.e4 (PMID28479296, PMCID5482780, DOI10.1016/j.chembiol.2017.04.009, lire en ligne)
(en) Johannes A. Mayr, René G. Feichtinger, Frederic Tort et Antonia Ribes, « Lipoic acid biosynthesis defects », Journal of Inherited Metabolic Disease, vol. 37, no 4, , p. 553–563 (ISSN0141-8955 et 1573-2665, DOI10.1007/s10545-014-9705-8, lire en ligne)
(en) Geoffray Monteuuis, Fumi Suomi, Juha M. Kerätär et Ali J. Masud, « A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3 », Biochemical Journal, vol. 474, no 22, , p. 3783–3797 (ISSN0264-6021 et 1470-8728, DOI10.1042/BCJ20170416, lire en ligne)
(en) G.N. Thompson, J.H. Walter, J.-L. Bresson et G.C. Ford, « Sources of propionate in inborn errors of propionate metabolism », Metabolism, vol. 39, no 11, , p. 1133–1137 (DOI10.1016/0026-0495(90)90084-P, lire en ligne)
(en) Marwa Scharinger, Marcel Kuntz, Andreas Scharinger et Jan Teipel, « Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy », Foods, vol. 10, no 3, , p. 526 (ISSN2304-8158, PMID33802459, PMCID7998730, DOI10.3390/foods10030526, lire en ligne)
(en) T Yamamura, Y Okamoto, G Okada et Y Takaishi, « Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations », Translational Psychiatry, vol. 6, no 3, , e754–e754 (ISSN2158-3188, PMID26954981, PMCID4872444, DOI10.1038/tp.2016.18, lire en ligne)
(en) B.A McLaughlin, D Nelson, I.A Silver et M Erecinska, « Methylmalonate toxicity in primary neuronal cultures », Neuroscience, vol. 86, no 1, , p. 279–290 (DOI10.1016/S0306-4522(97)00594-0, lire en ligne)
(en) S. Kölker, B. Ahlmeyer, J. Krieglstein et G. F. Hoffmann, « Methylmalonic acid induces excitotoxic neuronal damage in vitro », Journal of Inherited Metabolic Disease, vol. 23, no 4, , p. 355–358 (ISSN0141-8955 et 1573-2665, DOI10.1023/A:1005631230455, lire en ligne)
(en) Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan et Matthew H. Mossayebi, « Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria », Molecular Genetics & Genomic Medicine, vol. 9, no 4, (ISSN2324-9269 et 2324-9269, PMID33625768, PMCID8123733, DOI10.1002/mgg3.1621, lire en ligne).
(en) G. K. Brown, R. D. Scholem, A. Bankier et D. M. Danks, « Malonyl coenzyme a decarboxylase deficiency », Journal of Inherited Metabolic Disease, vol. 7, no 1, , p. 21–26 (ISSN0141-8955 et 1573-2665, DOI10.1007/BF01805615, lire en ligne)
(en) Zeinab Wehbe, Sidney Behringer, Khaled Alatibi et David Watkins, « The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism », Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, vol. 1864, no 11, , p. 1629–1643 (DOI10.1016/j.bbalip.2019.07.012, lire en ligne).
(en) Lisa C. Sniderman, Marie Lambert, Robert Giguère et Christiane Auray-Blais, « Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program », The Journal of Pediatrics, vol. 134, no 6, , p. 675–680 (DOI10.1016/S0022-3476(99)70280-5, lire en ligne).
(en) Andrzej Witkowski, Jennifer Thweatt et Stuart Smith, « Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis », Journal of Biological Chemistry, vol. 286, no 39, , p. 33729–33736 (PMID21846720, PMCID3190830, DOI10.1074/jbc.M111.291591, lire en ligne)
(en) Caitlyn E. Bowman, Susana Rodriguez, Ebru S. Selen Alpergin et Michelle G. Acoba, « The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency », Cell Chemical Biology, vol. 24, no 6, , p. 673–684.e4 (PMID28479296, PMCID5482780, DOI10.1016/j.chembiol.2017.04.009, lire en ligne)
(en) G.N. Thompson, J.H. Walter, J.-L. Bresson et G.C. Ford, « Sources of propionate in inborn errors of propionate metabolism », Metabolism, vol. 39, no 11, , p. 1133–1137 (DOI10.1016/0026-0495(90)90084-P, lire en ligne)
(en) B.A McLaughlin, D Nelson, I.A Silver et M Erecinska, « Methylmalonate toxicity in primary neuronal cultures », Neuroscience, vol. 86, no 1, , p. 279–290 (DOI10.1016/S0306-4522(97)00594-0, lire en ligne)
(en) Ping Wang, Jianbo Shu, Chunyu Gu et Xiaoli Yu, « Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients », Frontiers in Pediatrics, vol. 9, , p. 751895 (ISSN2296-2360, PMID34900860, PMCID8658908, DOI10.3389/fped.2021.751895, lire en ligne).
issn.org
portal.issn.org
(en) Alina Levtova, Paula J. Waters, Daniela Buhas et Sébastien Lévesque, « Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort », Journal of Inherited Metabolic Disease, vol. 42, no 1, , p. 107–116 (ISSN0141-8955 et 1573-2665, DOI10.1002/jimd.12032, lire en ligne).
(en) NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston et Irini Manoli, « Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria », Nature Genetics, vol. 43, no 9, , p. 883–886 (ISSN1061-4036 et 1546-1718, PMID21841779, PMCID3163731, DOI10.1038/ng.908, lire en ligne).
(en) Ping Wang, Jianbo Shu, Chunyu Gu et Xiaoli Yu, « Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients », Frontiers in Pediatrics, vol. 9, , p. 751895 (ISSN2296-2360, PMID34900860, PMCID8658908, DOI10.3389/fped.2021.751895, lire en ligne).
(en) A. Alfares, L. D. Nunez, K. Al-Thihli et J. Mitchell, « Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype », Journal of Medical Genetics, vol. 48, no 9, , p. 602–605 (ISSN0022-2593 et 1468-6244, DOI10.1136/jmedgenet-2011-100230, lire en ligne).
(en) Johannes A. Mayr, René G. Feichtinger, Frederic Tort et Antonia Ribes, « Lipoic acid biosynthesis defects », Journal of Inherited Metabolic Disease, vol. 37, no 4, , p. 553–563 (ISSN0141-8955 et 1573-2665, DOI10.1007/s10545-014-9705-8, lire en ligne)
(en) Geoffray Monteuuis, Fumi Suomi, Juha M. Kerätär et Ali J. Masud, « A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3 », Biochemical Journal, vol. 474, no 22, , p. 3783–3797 (ISSN0264-6021 et 1470-8728, DOI10.1042/BCJ20170416, lire en ligne)
(en) Marwa Scharinger, Marcel Kuntz, Andreas Scharinger et Jan Teipel, « Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy », Foods, vol. 10, no 3, , p. 526 (ISSN2304-8158, PMID33802459, PMCID7998730, DOI10.3390/foods10030526, lire en ligne)
(en) T Yamamura, Y Okamoto, G Okada et Y Takaishi, « Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations », Translational Psychiatry, vol. 6, no 3, , e754–e754 (ISSN2158-3188, PMID26954981, PMCID4872444, DOI10.1038/tp.2016.18, lire en ligne)
(en) S. Kölker, B. Ahlmeyer, J. Krieglstein et G. F. Hoffmann, « Methylmalonic acid induces excitotoxic neuronal damage in vitro », Journal of Inherited Metabolic Disease, vol. 23, no 4, , p. 355–358 (ISSN0141-8955 et 1573-2665, DOI10.1023/A:1005631230455, lire en ligne)
(en) Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan et Matthew H. Mossayebi, « Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria », Molecular Genetics & Genomic Medicine, vol. 9, no 4, (ISSN2324-9269 et 2324-9269, PMID33625768, PMCID8123733, DOI10.1002/mgg3.1621, lire en ligne).
(en) G. K. Brown, R. D. Scholem, A. Bankier et D. M. Danks, « Malonyl coenzyme a decarboxylase deficiency », Journal of Inherited Metabolic Disease, vol. 7, no 1, , p. 21–26 (ISSN0141-8955 et 1573-2665, DOI10.1007/BF01805615, lire en ligne)
(en) Marwa Scharinger, Marcel Kuntz, Andreas Scharinger et Jan Teipel, « Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy », Foods, vol. 10, no 3, , p. 526 (ISSN2304-8158, PMID33802459, PMCID7998730, DOI10.3390/foods10030526, lire en ligne)
nature.com
(en) NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston et Irini Manoli, « Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria », Nature Genetics, vol. 43, no 9, , p. 883–886 (ISSN1061-4036 et 1546-1718, PMID21841779, PMCID3163731, DOI10.1038/ng.908, lire en ligne).
(en) T Yamamura, Y Okamoto, G Okada et Y Takaishi, « Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations », Translational Psychiatry, vol. 6, no 3, , e754–e754 (ISSN2158-3188, PMID26954981, PMCID4872444, DOI10.1038/tp.2016.18, lire en ligne)
(en) NIH Intramural Sequencing Center Group, Jennifer L Sloan, Jennifer J Johnston et Irini Manoli, « Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria », Nature Genetics, vol. 43, no 9, , p. 883–886 (ISSN1061-4036 et 1546-1718, PMID21841779, PMCID3163731, DOI10.1038/ng.908, lire en ligne).
(en) Ping Wang, Jianbo Shu, Chunyu Gu et Xiaoli Yu, « Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients », Frontiers in Pediatrics, vol. 9, , p. 751895 (ISSN2296-2360, PMID34900860, PMCID8658908, DOI10.3389/fped.2021.751895, lire en ligne).
(en) Andrzej Witkowski, Jennifer Thweatt et Stuart Smith, « Mammalian ACSF3 Protein Is a Malonyl-CoA Synthetase That Supplies the Chain Extender Units for Mitochondrial Fatty Acid Synthesis », Journal of Biological Chemistry, vol. 286, no 39, , p. 33729–33736 (PMID21846720, PMCID3190830, DOI10.1074/jbc.M111.291591, lire en ligne)
(en) Caitlyn E. Bowman, Susana Rodriguez, Ebru S. Selen Alpergin et Michelle G. Acoba, « The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency », Cell Chemical Biology, vol. 24, no 6, , p. 673–684.e4 (PMID28479296, PMCID5482780, DOI10.1016/j.chembiol.2017.04.009, lire en ligne)
(en) Marwa Scharinger, Marcel Kuntz, Andreas Scharinger et Jan Teipel, « Rapid Approach to Determine Propionic and Sorbic Acid Contents in Bread and Bakery Products Using 1H NMR Spectroscopy », Foods, vol. 10, no 3, , p. 526 (ISSN2304-8158, PMID33802459, PMCID7998730, DOI10.3390/foods10030526, lire en ligne)
(en) T Yamamura, Y Okamoto, G Okada et Y Takaishi, « Association of thalamic hyperactivity with treatment-resistant depression and poor response in early treatment for major depression: a resting-state fMRI study using fractional amplitude of low-frequency fluctuations », Translational Psychiatry, vol. 6, no 3, , e754–e754 (ISSN2158-3188, PMID26954981, PMCID4872444, DOI10.1038/tp.2016.18, lire en ligne)
(en) Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan et Matthew H. Mossayebi, « Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria », Molecular Genetics & Genomic Medicine, vol. 9, no 4, (ISSN2324-9269 et 2324-9269, PMID33625768, PMCID8123733, DOI10.1002/mgg3.1621, lire en ligne).
(en) Geoffray Monteuuis, Fumi Suomi, Juha M. Kerätär et Ali J. Masud, « A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3 », Biochemical Journal, vol. 474, no 22, , p. 3783–3797 (ISSN0264-6021 et 1470-8728, DOI10.1042/BCJ20170416, lire en ligne)
(en) Alina Levtova, Paula J. Waters, Daniela Buhas et Sébastien Lévesque, « Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort », Journal of Inherited Metabolic Disease, vol. 42, no 1, , p. 107–116 (ISSN0141-8955 et 1573-2665, DOI10.1002/jimd.12032, lire en ligne).
(en) Johannes A. Mayr, René G. Feichtinger, Frederic Tort et Antonia Ribes, « Lipoic acid biosynthesis defects », Journal of Inherited Metabolic Disease, vol. 37, no 4, , p. 553–563 (ISSN0141-8955 et 1573-2665, DOI10.1007/s10545-014-9705-8, lire en ligne)
(en) S. Kölker, B. Ahlmeyer, J. Krieglstein et G. F. Hoffmann, « Methylmalonic acid induces excitotoxic neuronal damage in vitro », Journal of Inherited Metabolic Disease, vol. 23, no 4, , p. 355–358 (ISSN0141-8955 et 1573-2665, DOI10.1023/A:1005631230455, lire en ligne)
(en) Marie Cosette Gabriel, Stephanie M. Rice, Jennifer L. Sloan et Matthew H. Mossayebi, « Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria », Molecular Genetics & Genomic Medicine, vol. 9, no 4, (ISSN2324-9269 et 2324-9269, PMID33625768, PMCID8123733, DOI10.1002/mgg3.1621, lire en ligne).
(en) G. K. Brown, R. D. Scholem, A. Bankier et D. M. Danks, « Malonyl coenzyme a decarboxylase deficiency », Journal of Inherited Metabolic Disease, vol. 7, no 1, , p. 21–26 (ISSN0141-8955 et 1573-2665, DOI10.1007/BF01805615, lire en ligne)