2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial · UniProt P12694
BCKDHA encodes the E1α subunit of the mitochondrial branched-chain α-ketoacid dehydrogenase (BCKDH) complex, which catalyzes the rate-limiting oxidative decarboxylation of branched-chain α-ketoacids derived from leucine, isoleucine, and valine, thereby fueling the TCA cycle and sustaining cellular ATP production. The enzyme is activated by dephosphorylation (including radiation-induced dephosphorylation) and inactivated by BCKDK-mediated phosphorylation; its transcription is positively regulated by KDM3A-dependent histone demethylation at the BCKDHA promoter and repressed by IDH3A-deficiency-driven DNA methylation (PMID:34876693, PMID:42008693, PMID:39672007). Co-expression of BCKDHA with BCKDHB is required for holoenzyme assembly, and dual AAV9-mediated delivery of both subunits rescues BCKDH activity and normalizes BCAA homeostasis in multiple animal models of maple syrup urine disease (MSUD) (PMID:40009698). Loss-of-function mutations in BCKDHA—including frameshift, splice-site, and large genomic deletions—cause classic MSUD (PMID:20431954, PMID:19085071, PMID:19456321).
Establishing the chromosomal location of BCKDHA was a prerequisite for positional cloning and mutation mapping in MSUD families.
Evidence In situ hybridization with radiolabeled cDNA mapped BCKDHA to 19q13.1–q13.2
Defining the exon–intron structure and promoter architecture of BCKDHA revealed cell-type-specific transcriptional control elements and explained tissue-variable expression.
Evidence Genomic cloning, sequencing, and luciferase reporter deletion constructs in Hep-G2 and CHO cells
Characterization of a large genomic deletion and a cryptic splice-site mutation in BCKDHA established the molecular mechanisms by which structural rearrangements and splicing defects cause MSUD of varying severity.
Evidence Long-range PCR breakpoint sequencing (deletion); minigene splicing assay and emetine-rescue mRNA analysis (splice mutation) in patient cells
Identification of founder and recurrent BCKDHA mutations in distinct populations showed that specific genomic regions are mutational hotspots for MSUD.
Evidence Microsatellite haplotype analysis in Portuguese Gypsy MSUD families
Demonstrating that KDM3A directly binds the BCKDHA promoter to activate transcription linked epigenetic regulation to BCAA catabolism and revealed that BCKDHA loss impairs TCA cycle fueling, reduces ATP, and triggers apoptosis in EGFR-mutant cancer cells.
Evidence ChIP for KDM3A at BCKDHA promoter, BCKDHA knockdown, mitochondrial metabolic assays in NSCLC cells
BCKDHA was shown to promote melanoma progression by upregulating lipogenic enzymes FASN and ACLY, extending its metabolic role beyond BCAA catabolism to lipid synthesis in cancer.
Evidence BCKDHA overexpression/knockdown in melanoma cells, RNA-seq, xenograft models, FASN/ACLY rescue experiments
Liver-specific BCKDHA knockout demonstrated that hepatic gluconeogenesis does not require BCKDHA-dependent BCAA catabolism, separating BCKDK's gluconeogenic role from its canonical BCKDHA-regulatory function.
Evidence Liver-specific BCKDHA and BCKDK knockout mice, glucose production assays, Co-IP
Radiation-induced dephosphorylation of BCKDHA activates BCAA catabolism and supports DNA repair capacity, identifying BCKDHA as a determinant of radioresponse in cancer cells.
Evidence siRNA knockdown, phospho-BCKDHA Western blot, clonogenic survival and γ-H2AX foci after X-irradiation
Dual AAV9-mediated co-delivery of BCKDHA and BCKDHB reconstituted holoenzyme activity and rescued lethal MSUD phenotypes across species, establishing proof of concept for gene therapy.
Evidence rAAV9.hA-BiP-hB in BCKDHA-null HEK293T, Bckdha/Bckdhb KO mice, and a BCKDHA-mutant calf
PRSS55 was placed upstream of BCKDK/BCKDHA in sperm, linking a testis-specific serine protease to BCAA catabolism and mitochondrial energy homeostasis required for sperm function.
Evidence Co-IP of PRSS55 with BCKDK and BCKDHA, BCAA metabolomics and mitochondrial assays in Prss55 KO mouse sperm
IDH3A deficiency was shown to repress BCKDHA transcription via promoter DNA hypermethylation, establishing a metabolite-to-epigenome axis controlling BCAA catabolism in beige adipocytes for thermogenesis.
Evidence Adipocyte-specific IDH3A KO mice, DNA methylation analysis of Bckdha promoter, BCKDHA overexpression rescue of mitochondrial respiration
| Year | Finding | Method | Journal | Conf | PMIDs |
|---|---|---|---|---|---|
| 1993 | The human BCKDHA gene (encoding the E1α subunit of the branched-chain α-keto acid dehydrogenase complex) contains 9 exons spanning at least 55 kb, with exon 1 being 135 bp and multiple transcription initiation sites at +1, +18, and +22. The promoter lacks a canonical TATA-box but contains Sp1, CAAT-box-like, AP-2, glucocorticoid-responsive, and cAMP-responsive elements. High-level transcription in hepatoma (Hep-G2) cells maps to the region between -320 and -115, with inhibitory elements upstream of -320; in CHO cells the region for high-level transcription lies between -909 and -115, indicating cell-type-specific promoter function. | Genomic cloning, sequencing, deletion constructs with luciferase reporter assay in Hep-G2 and CHO cells | The Journal of biological chemistry | High | 8463340 |
| 1989 | The human BCKDHA gene (encoding the E1α subunit of branched-chain keto acid dehydrogenase) was mapped to chromosome 19q13.1–q13.2 by in situ hybridization. | 3H-labeled cDNA in situ hybridization to human chromosomes | Cytogenetics and cell genetics | High | 2805821 |
| 2008 | A large genomic deletion of ~13.8 kb in BCKDHA (removing exons 2, 3, and 4) was caused by non-homologous recombination at a shared CGGG motif present in introns 1 and 4, establishing the deletion mechanism underlying this MSUD-causing rearrangement. | Long-range PCR and sequencing to map deletion breakpoints | Journal of inherited metabolic disease | Medium | 19085071 |
| 2010 | The intronic BCKDHA variant c.288+9C>T creates a cryptic splice site that causes insertion of a 7-bp fragment of intron 2 into the mRNA, producing a premature stop codon and triggering nonsense-mediated mRNA decay; a low level of normal transcript is also produced, consistent with the milder variant MSUD phenotype in the compound heterozygous patient. | Direct mRNA analysis from patient cells, emetine rescue, minigene splicing assay | Journal of inherited metabolic disease | High | 20431954 |
| 2009 | The BCKDHA mutation c.117delC (p.R40GfsX23) is a founder mutation in Portuguese Gypsies causing severe neonatal MSUD, as demonstrated by haplotype sharing across microsatellite markers flanking BCKDHA; the genomic region harboring this mutation is a mutational hotspot with recurrence in distinct population groups. | Microsatellite haplotype analysis flanking BCKDHA gene; population genetics | Annals of human genetics | Medium | 19456321 |
| 2011 | Novel BCKDHA missense mutations p.L103P and p.R265P identified in a Chinese MSUD patient: structural modelling showed p.L103P disrupts hydrophobic core/helix structure, while p.R265P affects the cofactor binding site by altering ligation of the associated manganese ion in the E1α component. | Gene sequencing, PyMOL structural modelling | Journal of pediatric endocrinology & metabolism : JPEM | Low | 22145486 |
| 2021 | BIX01294 transcriptionally downregulates BCKDHA expression through inhibition of the Jumonji-domain histone demethylase KDM3A, which normally binds the BCKDHA promoter to activate transcription. BCKDHA downregulation impairs mitochondrial TCA cycle fueling, reduces cellular ATP, and decreases EGFR levels causing apoptosis specifically in EGFR-mutant NSCLC cells. | Transcriptional reporter assays, ChIP showing KDM3A binding to BCKDHA promoter, BCKDHA knockdown, mitochondrial metabolic assays, EGFR western blot | Experimental & molecular medicine | High | 34876693 |
| 2023 | BCKDHA promotes melanoma cell proliferation, invasion, migration in vitro and tumor growth in vivo; mechanistically, BCKDHA upregulates expression of lipogenic enzymes FASN and ACLY, and its oncogenic effects are mediated through these enzymes as shown by RNA-sequencing and rescue experiments. | In vitro cell biology (proliferation, invasion, migration assays), in vivo xenograft, RNA-sequencing, IHC/IF, bioinformatics, FASN/ACLY functional follow-up | Experimental dermatology | Medium | 37377173 |
| 2024 | BCKDK promotes hepatic gluconeogenesis independently of BCKDHA-mediated BCAA catabolism: liver-specific BCKDK KO mice show reduced hepatic glucose production and gluconeogenic enzyme expression, whereas liver-specific BCKDHA KO mice have normal gluconeogenesis. Mechanistically, BCKDK regulates gluconeogenesis by modulating CREB interaction with CREB-binding protein and promoting FOXO1 ubiquitination and degradation. | Liver-specific BCKDK and BCKDHA knockout mice, primary hepatocyte KD/OE, glucose production assays, co-immunoprecipitation, ubiquitination assays | Cell death & disease | High | 39389936 |
| 2024 | X-irradiation dose-dependently dephosphorylates BCKDHA, activating the BCKDH complex and promoting BCAA catabolism. BCKDHA knockdown increases radiosensitivity of cancer cells by reducing ATP levels and increasing mitotic catastrophe and residual DNA double-strand breaks after X-irradiation. | Western blot for BCKDHA phosphorylation, siRNA knockdown, cell survival/clonogenic assay, γ-H2AX foci (DSB marker), mitotic catastrophe quantification | Biochemical and biophysical research communications | Medium | 39672007 |
| 2025 | A dual AAV9 vector delivering codon-optimized BCKDHA and BCKDHB (rAAV9.hA-BiP-hB) restored co-expression of both subunits and BCKDH holoenzyme activity in BCKDHA-null HEK293T cells and in two severe MSUD mouse models (Bckdha and Bckdhb mice) and a BCKDHA-mutant calf, normalizing BCAA homeostasis and preventing perinatal death. | Recombinant AAV gene delivery, BCKDH holoenzyme activity assay, BCAA metabolite quantification, in vivo rescue in mouse and bovine MSUD models | Science translational medicine | High | 40009698 |
| 2025 | PRSS55 interacts with BCKDK and BCKDHA in mouse testes and sperm (validated by Co-IP), and Prss55 knockout leads to BCAA accumulation, impaired mitochondrial function, and reduced ATP in sperm, placing PRSS55 upstream of BCKDK/BCKDHA in regulating BCAA catabolism and energy homeostasis for sperm function. | LC-MS/MS proteomics, Co-IP, metabolomics (BCAA quantification), immunofluorescence localization, mitochondrial function assays in Prss55-/- mice | Cell & bioscience | Medium | 41444608 |
| 2026 | IDH3A deficiency increases DNA methylation at the Bckdha promoter, repressing BCKDHA expression and impairing BCAA catabolism in beige adipocytes; restoring BCKDHA expression in IDH3A-deficient adipocytes rescues mitochondrial respiration and thermogenic function, placing IDH3A upstream of BCKDHA-dependent BCAA catabolism in adaptive thermogenesis. | Adipocyte-specific IDH3A knockout mice, DNA methylation analysis of Bckdha promoter, BCKDHA overexpression rescue, mitochondrial respiration assays | Diabetes | High | 42008693 |
| Year | Title | Journal | Citations | PMID |
|---|---|---|---|---|
| 2019 | Curcumin attenuates MSU crystal-induced inflammation by inhibiting the degradation of IκBα and blocking mitochondrial damage. | Arthritis research & therapy | 122 | 31455356 |
| 2017 | Berberine, an isoquinoline alkaloid suppresses TXNIP mediated NLRP3 inflammasome activation in MSU crystal stimulated RAW 264.7 macrophages through the upregulation of Nrf2 transcription factor and alleviates MSU crystal induced inflammation in rats. | International immunopharmacology | 96 | 28068647 |
| 2022 | Palmatine Protects Against MSU-Induced Gouty Arthritis via Regulating the NF-κB/NLRP3 and Nrf2 Pathways. | Drug design, development and therapy | 78 | 35812134 |
| 2020 | Celastrol ameliorates Propionibacterium acnes/LPS-induced liver damage and MSU-induced gouty arthritis via inhibiting K63 deubiquitination of NLRP3. | Phytomedicine : international journal of phytotherapy and phytopharmacology | 67 | 33130474 |
| 1999 | A novel reduced flavin mononucleotide-dependent methanesulfonate sulfonatase encoded by the sulfur-regulated msu operon of Pseudomonas aeruginosa. | Journal of bacteriology | 67 | 10049377 |
| 2021 | Tetrahydropalmatine attenuates MSU crystal-induced gouty arthritis by inhibiting ROS-mediated NLRP3 inflammasome activation. | International immunopharmacology | 50 | 34482265 |
| 2018 | Changes of Treg/Th17 Ratio in Spleen of Acute Gouty Arthritis Rat Induced by MSU Crystals. | Inflammation | 45 | 30039428 |
| 2020 | A mouse model of MSU-induced acute inflammation in vivo suggests imiquimod-dependent targeting of Il-1β as relevant therapy for gout patients. | Theranostics | 40 | 32104502 |
| 2015 | IL-37 inhibits the production of pro-inflammatory cytokines in MSU crystal-induced inflammatory response. | Clinical rheumatology | 40 | 26547220 |
| 2022 | Type II collagen facilitates gouty arthritis by regulating MSU crystallisation and inflammatory cell recruitment. | Annals of the rheumatic diseases | 39 | 36109143 |
| 2018 | MicroRNA-302b negatively regulates IL-1β production in response to MSU crystals by targeting IRAK4 and EphA2. | Arthritis research & therapy | 39 | 29482609 |
| 1992 | Malignant transformation of human fibroblast cell strain MSU-1.1 by (+-)-7 beta,8 alpha-dihydroxy-9 alpha,10 alpha-epoxy-7,8,9,10-tetrahydrobenzo [a]pyrene. | Proceedings of the National Academy of Sciences of the United States of America | 35 | 1549589 |
| 2020 | Anti-inflammatory and anti-gouty-arthritic effect of free Ginsenoside Rb1 and nano Ginsenoside Rb1 against MSU induced gouty arthritis in experimental animals. | Chemico-biological interactions | 34 | 33038330 |
| 2020 | Management of Gout-associated MSU crystals-induced NLRP3 inflammasome activation by procyanidin B2: targeting IL-1β and Cathepsin B in macrophages. | Inflammopharmacology | 32 | 33006110 |
| 2023 | MSU crystal deposition contributes to inflammation and immune responses in gout remission. | Cell reports | 30 | 37756161 |
| 2018 | Resveratrol attenuates the MSU crystal-induced inflammatory response through the inhibition of TAK1 activity. | International immunopharmacology | 29 | 30537632 |
| 2010 | Differences in MSU-induced superoxide responses by neutrophils from gout subjects compared to healthy controls and a role for environmental inflammatory cytokines and hyperuricemia in neutrophil function and survival. | The Journal of rheumatology | 28 | 20395644 |
| 2022 | Lipoxin A4 attenuates MSU-crystal-induced NLRP3 inflammasome activation through suppressing Nrf2 thereby increasing TXNRD2. | Frontiers in immunology | 26 | 36569930 |
| 2021 | Curcumin analogue AI-44 alleviates MSU-induced gouty arthritis in mice via inhibiting cathepsin B-mediated NLRP3 inflammasome activation. | International immunopharmacology | 24 | 33517224 |
| 2021 | β-Caryophyllene Ameliorates MSU-Induced Gouty Arthritis and Inflammation Through Inhibiting NLRP3 and NF-κB Signal Pathway: In Silico and In Vivo. | Frontiers in pharmacology | 23 | 33967792 |
| 2009 | Effects of extracts from Paederia scandens (LOUR.) MERRILL (Rubiaceae) on MSU crystal-induced rats gouty arthritis. | The American journal of Chinese medicine | 22 | 19655406 |
| 2021 | Effects of Gentiopicroside on activation of NLRP3 inflammasome in acute gouty arthritis mice induced by MSU. | Journal of natural medicines | 20 | 34586567 |
| 2023 | Polydatin ameliorates inflammation and oxidative stress associated with MSU-induced gouty arthritis in mice by regulating PPAR-γ and ferritin activation. | Life sciences | 19 | 37209866 |
| 2022 | Dynamin-Related Protein 1 Is Involved in Mitochondrial Damage, Defective Mitophagy, and NLRP3 Inflammasome Activation Induced by MSU Crystals. | Oxidative medicine and cellular longevity | 19 | 36338340 |
| 2019 | MSU Crystals induce sterile IL-1β secretion via P2X7 receptor activation and HMGB1 release. | Biochimica et biophysica acta. General subjects | 19 | 31676289 |
| 2018 | Fourteen new mutations of BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease (MSUD) in Malaysian population. | Molecular genetics and metabolism reports | 18 | 30228974 |
| 2000 | Malignant transformation of human fibroblast cell strain MSU-1.1 by N-methyl-N-nitrosourea: evidence of elimination of p53 by homologous recombination. | Cancer research | 18 | 10945617 |
| 2022 | POP1 inhibits MSU-induced inflammasome activation and ameliorates gout. | Frontiers in immunology | 17 | 36225929 |
| 2020 | 1-Palmitoyl-2-Linoleoyl-3-Acetyl-rac-Glycerol (PLAG) Mitigates Monosodium Urate (MSU)-Induced Acute Gouty Inflammation in BALB/c Mice. | Frontiers in immunology | 17 | 32395118 |
| 2020 | Icariin alleviates MSU-induced rat GA models through NF-κB/NALP3 pathway. | Cell biochemistry and function | 17 | 33135192 |
| 2019 | Suppression of Syk activation by resveratrol inhibits MSU crystal-induced inflammation in human monocytes. | Journal of molecular medicine (Berlin, Germany) | 17 | 30637441 |
| 2015 | Eleven novel mutations of the BCKDHA, BCKDHB and DBT genes associated with maple syrup urine disease in the Chinese population: Report on eight cases. | European journal of medical genetics | 17 | 26453840 |
| 1993 | Characterization of the promoter-regulatory region and structural organization of E1 alpha gene (BCKDHA) of human branched-chain alpha-keto acid dehydrogenase complex. | The Journal of biological chemistry | 17 | 8463340 |
| 2017 | Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease. | Molecular genetics and metabolism reports | 16 | 28417071 |
| 2011 | Biological hydrogen production by the algal biomass Chlorella vulgaris MSU 01 strain isolated from pond sediment. | Bioresource technology | 16 | 20620045 |
| 2023 | P2X7R Mediates the Synergistic Effect of ATP and MSU Crystals to Induce Acute Gouty Arthritis. | Oxidative medicine and cellular longevity | 15 | 36686377 |
| 2025 | Anemoside B4 targets NEK7 to inhibit NLRP3 inflammasome activation and alleviate MSU-induced acute gouty arthritis by modulating the NF-κB signaling pathway. | Phytomedicine : international journal of phytotherapy and phytopharmacology | 14 | 39939033 |
| 2023 | Ozone alleviates MSU-induced acute gout pain via upregulating AMPK/GAS6/MerTK/SOCS3 signaling pathway. | Journal of translational medicine | 14 | 38066599 |
| 2020 | The novel rexinoid MSU-42011 is effective for the treatment of preclinical Kras-driven lung cancer. | Scientific reports | 14 | 33335263 |
| 2019 | Alpha2B-Adrenergic Receptor Regulates Neutrophil Recruitment in MSU-Induced Peritoneal Inflammation. | Frontiers in immunology | 14 | 30941135 |
| 2021 | BIX01294 inhibits EGFR signaling in EGFR-mutant lung adenocarcinoma cells through a BCKDHA-mediated reduction in the EGFR level. | Experimental & molecular medicine | 13 | 34876693 |
| 2019 | IL-33 Ameliorates the Development of MSU-Induced Inflammation Through Expanding MDSCs-Like Cells. | Frontiers in endocrinology | 13 | 30863362 |
| 2023 | Discovery of a selective NLRP3-targeting compound with therapeutic activity in MSU-induced peritonitis and DSS-induced acute intestinal inflammation. | Cellular and molecular life sciences : CMLS | 12 | 37498355 |
| 2020 | Total saponin of Dioscorea collettii attenuates MSU crystal‑induced inflammation via inhibiting the activation of the NALP3 inflammasome and caspase‑1 in THP‑1 macrophages. | Molecular medicine reports | 12 | 32236574 |
| 1989 | Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2. | Cytogenetics and cell genetics | 12 | 2805821 |
| 2024 | Resolution of acute inflammation induced by monosodium urate crystals (MSU) through neutrophil extracellular trap-MSU aggregate-mediated negative signaling. | Journal of inflammation (London, England) | 11 | 39605016 |
| 2023 | Autophagy induced by PP121 alleviates MSU crystal-induced acute gouty arthritis via inhibition of the NLRP3 inflammasome. | International immunopharmacology | 11 | 37573689 |
| 2021 | Targeting Tristetraprolin Expression or Functional Activity Regulates Inflammatory Response Induced by MSU Crystals. | Frontiers in immunology | 10 | 34335573 |
| 2019 | Decreased Expression of CD14 in MSU-Mediated Inflammation May Be Associated with Spontaneous Remission of Acute Gout. | Journal of immunology research | 10 | 31312662 |
| 2009 | Revisiting MSUD in Portuguese Gypsies: evidence for a founder mutation and for a mutational hotspot within the BCKDHA gene. | Annals of human genetics | 10 | 19456321 |
| 2023 | Dimethyl fumarate attenuates MSU-induced gouty arthritis by inhibiting NLRP3 inflammasome activation and oxidative stress. | European review for medical and pharmacological sciences | 9 | 36734707 |
| 2023 | The Mycobacterium tuberculosis MmpL3 inhibitor MSU-43085 is active in a mouse model of infection. | Microbiology spectrum | 9 | 38078724 |
| 2019 | MSU Crystals Enhance TDB-Mediated Inflammatory Macrophage IL-1β Secretion. | Inflammation | 9 | 30806957 |
| 2011 | Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene. | Annals of clinical and laboratory science | 9 | 21844576 |
| 1998 | Dose-dependent transformation of cells of human fibroblast cell strain MSU-1.1 by cobalt-60 gamma radiation and characterization of the transformed cells. | Radiation research | 9 | 9806600 |
| 2023 | BCKDHA contributes to melanoma progression by promoting the expressions of lipogenic enzymes FASN and ACLY. | Experimental dermatology | 8 | 37377173 |
| 2023 | Maresin1 ameliorates MSU crystal-induced inflammation by upregulating Prdx5 expression. | Molecular medicine (Cambridge, Mass.) | 8 | 37996809 |
| 2022 | MicroRNA-486-5p suppresses inflammatory response by targeting FOXO1 in MSU-treated macrophages. | Autoimmunity | 8 | 36226520 |
| 2021 | CD300a contributes to the resolution of articular inflammation triggered by MSU crystals by controlling neutrophil apoptosis. | Immunology | 8 | 34002852 |
| 2021 | Effects of Stephania hainanensis alkaloids on MSU-induced acute gouty arthritis in mice. | BMC complementary medicine and therapies | 8 | 34284768 |
| 2014 | Increased level of MSU crystal-bound protein apolipoprotein A-I in acute gouty arthritis. | Scandinavian journal of rheumatology | 8 | 25178483 |
| 2024 | MSU crystallization promotes fibroblast proliferation and renal fibrosis in diabetic nephropathy via the ROS/SHP2/TGFβ pathway. | Scientific reports | 7 | 39215017 |
| 2022 | The protective effects of S14G-humanin (HNG) against mono-sodium urate (MSU) crystals- induced gouty arthritis. | Bioengineered | 7 | 34965184 |
| 2021 | Total Saponin of Dioscorea collettii Attenuates MSU Crystal-Induced Inflammation by Inhibiting the Activation of the TLR4/NF-κB Signaling Pathway. | Evidence-based complementary and alternative medicine : eCAM | 7 | 34721647 |
| 2025 | Study on the effect and mechanism of ZeXie decoction in treating MSU-induced acute gouty arthritis model through PI3K-AKT-mTOR signaling pathway. | International immunopharmacology | 6 | 39952005 |
| 2024 | DUSP1 Mitigates MSU-Induced Immune Response in Gouty Arthritis Reinforcing Autophagy. | Frontiers in bioscience (Landmark edition) | 6 | 38940057 |
| 2024 | ML335 inhibits TWIK2 channel-mediated potassium efflux and attenuates mitochondrial damage in MSU crystal-induced inflammation. | Journal of translational medicine | 6 | 39175013 |
| 2023 | Ouratea spectabilis and its Biflavanone Ouratein D Exert Potent Anti-inflammatory Activity in MSU Crystal-induced Gout in Mice. | Planta medica | 6 | 36626932 |
| 2023 | Adaptation of Lacticaseibacillus rhamnosus CM MSU 529 to Aerobic Growth: A Proteomic Approach. | Microorganisms | 6 | 36838278 |
| 2022 | MicroRNA-181a regulates Treg functions via TGF-β1/Smad axis in the spleen of mice with acute gouty arthritis induced by MSU crystals. | Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas | 6 | 36477951 |
| 2018 | Four novel mutations of the BCKDHA, BCKDHB and DBT genes in Iranian patients with maple syrup urine disease. | Journal of pediatric endocrinology & metabolism : JPEM | 6 | 29306928 |
| 2015 | IL-1βR-dependent priming of antitumor CD4+ T cells and sustained antitumor immunity after peri-tumoral treatment with MSU and mycobacteria. | Oncoimmunology | 6 | 26451307 |
| 2011 | Identification of two novel BCKDHA mutations in a Chinese patient with maple syrup urine disease. | Journal of pediatric endocrinology & metabolism : JPEM | 6 | 22145486 |
| 2008 | Maple syrup urine disease due to a new large deletion at BCKDHA caused by non-homologous recombination. | Journal of inherited metabolic disease | 6 | 19085071 |
| 2025 | Triple-Enzyme Mimetic Manganese Nanozyme with Redox-Adaptive Catalysis for Synergistic MSU Degradation and Inflammation Resolution in Acute Gout. | Advanced healthcare materials | 5 | 40567054 |
| 2024 | BCKDH kinase promotes hepatic gluconeogenesis independent of BCKDHA. | Cell death & disease | 5 | 39389936 |
| 2023 | Resveratrol alleviates MSU-induced gouty arthritis in rats through inhibition of HIF-1α- and NLRP3-derived IL-1β secretion in macrophages. | Cellular and molecular biology (Noisy-le-Grand, France) | 5 | 37715438 |
| 2010 | Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease. | Journal of inherited metabolic disease | 5 | 20431954 |
| 1995 | Malignant transformation of human fibroblast strain MSU-1.1 by v-fes requires an additional genetic change. | International journal of cancer | 5 | 7558443 |
| 2025 | BCKDHA-BCKDHB digenic gene therapy restores metabolic homeostasis in two mouse models and a calf with classic maple syrup urine disease. | Science translational medicine | 4 | 40009698 |
| 2023 | Clec12a inhibits MSU-induced immune activation through lipid raft expulsion. | Life science alliance | 4 | 37339805 |
| 2021 | Minimally Invasive Embedding of Saturated MSU Induces Persistent Gouty Arthritis in Modified Rat Model. | BioMed research international | 4 | 34212036 |
| 2009 | Prenatal diagnosis of a novel mutation, c.529C>T (p.Q177X), in the BCKDHA gene in a family with maple syrup urine disease. | Journal of inherited metabolic disease | 4 | 19240989 |
| 2024 | The alleviatory effects of koumine on MSU-induced gouty arthritis via the TLR4/NF-κB/NLRP3 pathway. | Basic & clinical pharmacology & toxicology | 3 | 38828789 |
| 2024 | Dephosphorylation of branched-chain α-keto acid dehydrogenase E1α (BCKDHA) promotes branched-chain amino acid catabolism and renders cancer cells resistant to X-rays by mitigating DNA damage. | Biochemical and biophysical research communications | 3 | 39672007 |
| 2010 | The Trichoplusia ni cell line MSU-TnT4 does not harbor a latent nodavirus. | In vitro cellular & developmental biology. Animal | 3 | 19911241 |
| 1998 | A nonsense mutation (R242X) in the branched-chain alpha-keto acid dehydrogenase E1alpha subunit gene (BCKDHA) as a cause of maple syrup urine disease. Mutations in brief no. 160. Online. | Human mutation | 3 | 10694918 |
| 2025 | A novel zinc ferrite nanoparticle protects against MSU-induced gout arthritis via Nrf2/NF-κB/NLRP3 pathway. | Life sciences | 2 | 39983819 |
| 2025 | IL1A regulates MSU-induced apoptosis and inflammatory response through TLR4/MyD88/NF-κB signaling pathway. | International journal of medical sciences | 2 | 40657393 |
| 2024 | The integrin CD11b inhibits MSU-induced NLRP3 inflammasome activation in macrophages and protects mice against MSU-induced joint inflammation. | Arthritis research & therapy | 2 | 38863059 |
| 2023 | Highly expressed long non-coding RNA SNHG14 activated MSU-induced inflammatory response in acute gout arthritis through targeting miR-223-3p. | International journal of rheumatic diseases | 2 | 37715329 |
| 2022 | Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. | JIMD reports | 2 | 36341163 |
| 2021 | Identification of the first Alu-mediated gross deletion involving the BCKDHA gene in a compound heterozygous patient with maple syrup urine disease. | Clinica chimica acta; international journal of clinical chemistry | 2 | 33607070 |
| 2021 | Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease. | Journal of pediatric endocrinology & metabolism : JPEM | 1 | 34883003 |
| 2026 | Pentagalloyl glucose Suppresses MSU Crystal-Induced Gout Inflammation and Arachidonic Acid Production In Vitro and In Vivo. | Research square | 0 | 41756470 |
| 2026 | IDH3A Deficiency Compromises Adaptive Thermogenesis and Exacerbates Obesity-Induced Metabolic Dysfunction via Impaired BCKDHA-Dependent BCAA Catabolism. | Diabetes | 0 | 42008693 |
| 2025 | The RXR Agonist MSU-42011 Reduces Tumor Burden in a Murine Preclinical NF1-Deficient Model. | Cancers | 0 | 40563570 |
| 2025 | AduCPI2 alleviates MSU-induced acute gouty arthritis in mice by inhibiting cathepsin S and the C5a-C5aR1 axis. | Frontiers in pharmacology | 0 | 40584622 |
| 2025 | Mitochondrial calcium uniporter promotes MSU crystal-induced inflammation through inducing mitochondrial Ca2+ overload and ubiquitination of SIRT5 protein. | Arthritis research & therapy | 0 | 40846988 |
| 2025 | PRSS55 regulates BCAA metabolism and interacts with BCKDK and BCKDHA in mouse testes and sperm. | Cell & bioscience | 0 | 41444608 |