| scholarly article | Q13442814 |
| P6179 | Dimensions Publication ID | 1009257492 |
| P356 | DOI | 10.1007/S10545-014-9705-8 |
| P698 | PubMed publication ID | 24777537 |
| P5875 | ResearchGate publication ID | 261955983 |
| P50 | author | Johannes A Mayr | Q37843434 |
| Frederic Tort | Q43833486 | ||
| P2093 | author name string | Wolfgang Sperl | |
| Antonia Ribes | |||
| René G Feichtinger | |||
| P2860 | cites work | Mechanism and substrate recognition of human holo ACP synthase | Q24300815 |
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| A novel phosphopantetheine:protein transferase activating yeast mitochondrial acyl carrier protein | Q27934774 | ||
| HFA1 encoding an organelle-specific acetyl-CoA carboxylase controls mitochondrial fatty acid synthesis in Saccharomyces cerevisiae. | Q27934878 | ||
| Htd2p/Yhr067p is a yeast 3-hydroxyacyl-ACP dehydratase essential for mitochondrial function and morphology | Q27940349 | ||
| Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5 | Q28118796 | ||
| A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency | Q28235105 | ||
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| Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality | Q28511916 | ||
| Do mammalian cells synthesize lipoic acid? Identification of a mouse cDNA encoding a lipoic acid synthase located in mitochondria | Q28512850 | ||
| GABA and glycine as neurotransmitters: a brief history | Q30498662 | ||
| Leigh syndrome in a girl with a novel DLD mutation causing E3 deficiency | Q30584522 | ||
| An ancient genetic link between vertebrate mitochondrial fatty acid synthesis and RNA processing. | Q33300530 | ||
| Asymptomatic alpha-ketoadipic aciduria detected during a pilot study of neonatal urine screening | Q33742083 | ||
| Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy | Q33765243 | ||
| A trail of research from lipoic acid to alpha-keto acid dehydrogenase complexes | Q33953799 | ||
| Endogenous production of lipoic acid is essential for mouse development | Q34042851 | ||
| Defects in mitochondrial fatty acid synthesis result in failure of multiple aspects of mitochondrial biogenesis in Saccharomyces cerevisiae. | Q34129957 | ||
| Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. | Q34203161 | ||
| DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria | Q34310906 | ||
| Assay of protein-bound lipoic acid in tissues by a new enzymatic method | Q34466422 | ||
| The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload. | Q34626176 | ||
| Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. | Q35186364 | ||
| Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes | Q35286550 | ||
| A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins | Q35542131 | ||
| Tissue specificity of a human mitochondrial disease: differentiation-enhanced mis-splicing of the Fe-S scaffold gene ISCU renders patient cells more sensitive to oxidative stress in ISCU myopathy | Q36418756 | ||
| Down-regulation of mitochondrial acyl carrier protein in mammalian cells compromises protein lipoylation and respiratory complex I and results in cell death | Q37160918 | ||
| The role of the Saccharomyces cerevisiae lipoate protein ligase homologue, Lip3, in lipoic acid synthesis | Q37250810 | ||
| Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes | Q37463296 | ||
| Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiency | Q37535799 | ||
| Mitochondrial fatty acid synthesis and respiration | Q37708533 | ||
| Lipoic acid: energy metabolism and redox regulation of transcription and cell signaling | Q37836402 | ||
| Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation | Q39697781 | ||
| Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase | Q41897276 | ||
| Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy | Q41932516 | ||
| Clinical manifestation and a new ISCU mutation in iron-sulphur cluster deficiency myopathy | Q42626335 | ||
| Crystalline alpha-lipoic acid; a catalytic agent associated with pyruvate dehydrogenase | Q44760844 | ||
| Mutations in the lipoyltransferase LIPT1 gene cause a fatal disease associated with a specific lipoylation defect of the 2-ketoacid dehydrogenase complexes. | Q45917666 | ||
| Elevated plasma citrulline: look for dihydrolipoamide dehydrogenase deficiency | Q47984413 | ||
| Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings | Q57251783 | ||
| Biochemical and Genetic Studies with Lysine + Methionine Mutants of Escherichia coli: Lipoic Acid and -Ketoglutarate Dehydrogenase-less Mutants | Q69874230 | ||
| A decrease in glycine cleavage activity in the liver of a patient with dihydrolipoyl dehydrogenase deficiency | Q70333116 | ||
| Lipoic acid reduces the activities of biotin-dependent carboxylases in rat liver | Q73648908 | ||
| Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews | Q77958594 | ||
| Lipoyl synthase inserts sulfur atoms into an octanoyl substrate in a stepwise manner | Q79886943 | ||
| Myopathy with lactic acidosis is linked to chromosome 12q23.3-24.11 and caused by an intron mutation in the ISCU gene resulting in a splicing defect | Q80763956 | ||
| Rat liver mitochondria contain two immunologically distinct dihydrolipoamide dehydrogenases | Q93539238 | ||
| P433 | issue | 4 | |
| P304 | page(s) | 553-563 | |
| P577 | publication date | 2014-04-29 | |
| P1433 | published in | Journal of Inherited Metabolic Disease | Q6295359 |
| P1476 | title | Lipoic acid biosynthesis defects | |
| P478 | volume | 37 |
| Q90086803 | "Idiopathic" pulmonary arterial hypertension in early infancy: Excluding NFU1 deficiency |
| Q48144349 | A novel synthetic chemical entity (UPEI-800) is neuroprotective in vitro and in an in vivo rat model of oxidative stress |
| Q98463469 | ABHD11 maintains 2-oxoglutarate metabolism by preserving functional lipoylation of the 2-oxoglutarate dehydrogenase complex |
| Q55078174 | Acute loss of iron-sulfur clusters results in metabolic reprogramming and generation of lipid droplets in mammalian cells. |
| Q36902471 | Assembly of Lipoic Acid on Its Cognate Enzymes: an Extraordinary and Essential Biosynthetic Pathway |
| Q47037322 | Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. |
| Q41953858 | Bioprotective carnitinoids: lipoic acid, butyrate, and mitochondria-targeting to treat radiation injury: mitochondrial drugs come of age. |
| Q35383960 | Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. |
| Q90451466 | Different opinion on the reported role of Poldip2 and ACSM1 in a mammalian lipoic acid salvage pathway controlling HIF-1 activation |
| Q38944404 | Differential diagnosis of lipoic acid synthesis defects. |
| Q38742951 | Epigenetic Treatment of Neurodegenerative Disorders: Alzheimer and Parkinson Diseases |
| Q47134297 | Epigenetic Treatment of Neurodegenerative Ophthalmic Disorders: An Eye Toward the Future. |
| Q92487200 | Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency |
| Q41472507 | IBA57 mutations abrogate iron-sulfur cluster assembly leading to cavitating leukoencephalopathy |
| Q91387636 | Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6 |
| Q38854377 | Immunomodulatory activities of alpha lipoic acid with a special focus on its efficacy in preventing miscarriage |
| Q47803064 | Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients. |
| Q47868491 | In Vivo Roles of Fatty Acid Biosynthesis Enzymes in Biosynthesis of Biotin and α-Lipoic Acid in Corynebacterium glutamicum |
| Q89657505 | Increased antioxidant response in medium-chain acyl-CoA dehydrogenase deficiency: does lipoic acid have a protective role? |
| Q51766570 | Iron Sulfur and Molybdenum Cofactor Enzymes Regulate the Drosophila Life Cycle by Controlling Cell Metabolism. |
| Q26850111 | Iron-sulfur cluster biogenesis in mammalian cells: New insights into the molecular mechanisms of cluster delivery |
| Q31034830 | Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options |
| Q38235898 | Lipid metabolism in mitochondrial membranes |
| Q38256907 | Lipoic acid and lipoic acid analogs in cancer metabolism and chemotherapy |
| Q46250720 | Lipoic acid metabolism and mitochondrial redox regulation. |
| Q36928127 | Lipoyltransferase 1 Gene Defect Resulting in Fatal Lactic Acidosis in Two Siblings |
| Q29147487 | MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder |
| Q88718447 | Metabolic Regulation of Hypoxia-Inducible Transcription Factors: The Role of Small Molecule Metabolites and Iron |
| Q24570085 | Microbiota and Neurological Disorders: A Gut Feeling |
| Q36409220 | Mis-targeting of the mitochondrial protein LIPT2 leads to apoptotic cell death |
| Q27937154 | Mitochondrial Bol1 and Bol3 function as assembly factors for specific iron-sulfur proteins |
| Q92814238 | Mitoprotective Clinical Strategies in Type 2 Diabetes and Fanconi Anemia Patients: Suggestions for Clinical Management of Mitochondrial Dysfunction |
| Q40800636 | Novel compound heterozygous LIAS mutations cause glycine encephalopathy |
| Q56221442 | Protein moonlighting elucidates the essential human pathway catalyzing lipoic acid assembly on its cognate enzymes |
| Q91778990 | Redox Regulation via Glutaredoxin-1 and Protein S-Glutathionylation |
| Q37321667 | Roles of Fe-S proteins: from cofactor synthesis to iron homeostasis to protein synthesis |
| Q93170123 | SliceIt: A genome-wide resource and visualization tool to design CRISPR/Cas9 screens for editing protein-RNA interaction sites in the human genome |
| Q35825509 | Spectrum of combined respiratory chain defects |
| Q53544699 | Suppression of a cancer stem-like phenotype mediated by alpha-lipoic acid in human lung cancer cells through down-regulation of β-catenin and Oct-4. |
| Q89556074 | Synthetic analogues of 2-oxo acids discriminate metabolic contribution of the 2-oxoglutarate and 2-oxoadipate dehydrogenases in mammalian cells and tissues |
| Q47136325 | The Antioxidant Cofactor Alpha-Lipoic Acid May Control Endogenous Formaldehyde Metabolism in Mammals |
| Q38294904 | The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders |
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