Affinage

GCDH

Glutaryl-CoA dehydrogenase, mitochondrial · UniProt Q92947

Length
438 aa
Mass
48.1 kDa
Annotated
2026-06-10
59 papers in source corpus 13 papers cited in narrative 13 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GCDH is a mitochondrial FAD-dependent enzyme that catalyzes a downstream step in L-lysine catabolism, generating substrates such that its loss causes accumulation of neurotoxic glutaric and 3-hydroxyglutaric acid (PMID:28545977, PMID:25214427). It assembles as a homotetramer, and FAD binding is essential for its folding, oligomerization, thermostability, and catalytic activity; FAD-free variants remain monomeric and non-functional (PMID:18775954, PMID:32992790). Disease-causing missense mutations inactivate the enzyme by impairing catalysis, tetrameric assembly, or by accelerating intramitochondrial degradation, and gene replacement in Gcdh-/- mice restores enzyme activity and metabolite levels while protecting against striatal neuropathology, establishing GCDH as the causal enzyme of glutaric aciduria type I (PMID:18775954, PMID:38983872). Beyond its catabolic role, GCDH controls intracellular glutaryl-CoA and crotonyl-CoA pools and thereby governs two distinct post-translational/epigenetic programs: it regulates protein glutarylation of substrates including NRF2 and AKT1—modifications reversed by SIRT5 that alter NRF2 stability/transcriptional output and inactivate AKT1 kinase signaling—and it supplies crotonyl-CoA for histone H3K27 crotonylation at target gene promoters such as GLS1 and SPARC, linking lysine metabolism to oncogenic signaling and gene regulation (PMID:36050469, PMID:42207644, PMID:41438501, PMID:40810390). GCDH activity is itself tuned by acetylation at K438 by P300 and deacetylation by HDAC1, which modulates its tumor-suppressive function (PMID:40896397). In the brain, GCDH deficiency produces region-selective vulnerability of cortex and striatum, marked by oxidative stress and dysregulation of glutamate receptors and transporters (PMID:33001399, PMID:24594605).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2008 High

    Established that GCDH functions as a homotetramer and defined how disease mutations abrogate activity through catalytic, assembly, and stability defects.

    Evidence Mammalian expression of missense mutants with cross-linking, pulse-chase, enzyme assays, and molecular modeling

    PMID:18775954

    Open questions at the time
    • No high-resolution structure of the tetramer
    • Identity of the heterologous proteins forming the 97/130/200 kDa complexes not determined
  2. 2014 Medium

    Mapped GCDH's substrate-generating pathway in brain, showing L-pipecolate is the major lysine degradation route and situating GCDH downstream of peroxisomal/pipecolate steps.

    Evidence Stable isotope L-lysine tracing in Gcdh-/- mice with purified brain peroxisome fractions and enzyme assays

    PMID:25214427

    Open questions at the time
    • Single-lab tracing
    • Does not quantify flux contribution to neurotoxic metabolite accumulation
  3. 2014 Medium

    Linked GCDH-deficiency metabolites to glutamatergic excitotoxicity by showing region-selective upregulation of glutamate receptors and transporters.

    Evidence mRNA and protein expression analysis in Gcdh-/- vs WT mice across ages and lysine diets

    PMID:24594605

    Open questions at the time
    • Correlative expression changes
    • Direct causal link between specific metabolite and receptor dysregulation not isolated
  4. 2016 Medium

    Defined GCDH's mitochondrial localization and tissue/cell-type expression pattern, emphasizing neuronal and hepatic expression.

    Evidence Immunofluorescence with cell-type markers in embryonic and adult rat tissues

    PMID:27984186

    Open questions at the time
    • Descriptive localization
    • No functional consequence tied to expression pattern
  5. 2017 High

    Revealed a DHTKD1-independent route generating glutaryl-CoA, refining the placement of GCDH in lysine degradation.

    Evidence Dhtkd1-/-/Gcdh-/- double knockout mice with quantitative metabolite measurement

    PMID:28545977

    Open questions at the time
    • Identity of the alternative glutaryl-CoA-producing enzyme not established
  6. 2020 High

    Established FAD as essential for GCDH folding, oligomerization, and catalysis using a clinical variant that is FAD-free and monomeric.

    Evidence Recombinant GCDH-p.Val400Met with SEC, thermostability, proteolysis, and FAD supplementation assays

    PMID:32992790

    Open questions at the time
    • Generalization to other variants not tested
    • Structural basis of FAD-driven reorganization not resolved
  7. 2020 Medium

    Demonstrated region-specific oxidative stress vulnerability of cortex and striatum in GCDH deficiency under inflammatory challenge.

    Evidence LPS challenge in Gcdh-/- mice with tissue-specific oxidative stress and inflammatory marker measurement

    PMID:33001399

    Open questions at the time
    • Mechanism of regional selectivity unknown
    • Single-lab study
  8. 2022 High

    Showed GCDH controls protein glutarylation, with knockdown driving NRF2 glutarylation, stabilization, and a transcriptional death program in melanoma.

    Evidence siRNA/inducible KO, glutarylation mass spectrometry, transcriptional reporters, DHTKD1 epistasis, xenografts

    PMID:36050469

    Open questions at the time
    • Direct demonstration that glutaryl-CoA non-enzymatically modifies NRF2 in vivo limited
    • Generalizability beyond melanoma
  9. 2024 High

    Established GCDH as the causal enzyme of glutaric aciduria type I by gene-replacement rescue of metabolic and neuropathological phenotypes.

    Evidence Neonatal systemic AAV9-GCDH delivery in Gcdh-/- mice with enzyme, metabolite, MRI, and histology readouts

    PMID:38983872

    Open questions at the time
    • Long-term durability and human translation not addressed
    • Does not resolve mechanism of selective striatal injury
  10. 2025 High

    Defined a GCDH–glutaryl-CoA–AKT1 axis in which glutarylation at K179/K289 inactivates AKT1, reversed by SIRT5, connecting GCDH to oncogenic kinase signaling.

    Evidence Glutarylation site mapping, K179/K289 mutagenesis, in vitro AKT1 kinase and PDK1 assays, SIRT5 deglutarylation, growth assays

    PMID:42207644

    Open questions at the time
    • In vivo relevance of AKT1 glutarylation in tumors not fully delineated
  11. 2025 Medium

    Showed GCDH activity is regulated by reversible K438 acetylation (P300 writer, HDAC1 eraser) controlling its tumor-suppressive function in HCC via ROS/OXPHOS and ATR/Chk1 signaling.

    Evidence Overexpression/knockdown in HCC cells, ROS/OXPHOS assays, ATR/Chk1 analysis, P300/HDAC1 Co-IP

    PMID:40896397

    Open questions at the time
    • Single lab
    • Mechanistic link between K438 acetylation and catalytic activity not biochemically reconstituted
  12. 2025 Medium

    Established GCDH as the crotonyl-CoA source for histone H3K27 crotonylation, coupling its enzymatic activity to epigenetic control of metabolic and EMT genes.

    Evidence siRNA knockdown, ChIP for H3K27cr, luciferase reporters, catalytic-mutant rescue, Co-IP with YEATS2/p300, xenografts

    PMID:40810390 PMID:41438501

    Open questions at the time
    • Quantitative contribution of GCDH to total cellular crotonyl-CoA not measured
    • Single-lab studies per cancer type

Open questions

Synthesis pass · forward-looking unresolved questions
  • How GCDH balances its catabolic, glutarylation, and crotonylation-supplying roles and what determines the selective striatal/cortical neurotoxicity in GA-I remains unresolved.
  • No structural model integrating FAD binding, tetramerization, and PTM regulation
  • Mechanism of regional brain vulnerability undefined
  • Alternative glutaryl-CoA source enzyme unidentified

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016491 oxidoreductase activity 3 GO:0016740 transferase activity 2
Localization
GO:0005739 mitochondrion 1
Pathway
R-HSA-1430728 Metabolism 2 R-HSA-1643685 Disease 2 R-HSA-4839726 Chromatin organization 2
Partners
AKT1DHTKD1HDAC1NRF2P300SIRT5YEATS2

Evidence

Reading pass · 13 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2008 GCDH forms homotetramers and also interacts with distinct heterologous polypeptides to form novel 97, 130, and 200 kDa GCDH complexes. Disease-causing missense mutations (p.Arg138Gly, p.Met263Val, p.Arg402Trp, p.Glu414Lys) render the enzyme enzymatically inactive (except p.Met263Val which retains 10% activity). p.Arg402Trp undergoes rapid intramitochondrial degradation. p.Met263Val and p.Arg402Trp strongly impair homotetrameric assembly. Molecular modeling suggests Met263 is at the surface contact interface with interacting proteins. Mammalian cell expression, western blot, pulse-chase analysis, cross-linking, biochemical enzyme activity assays, molecular modeling Human molecular genetics High 18775954
2017 GCDH acts downstream of DHTKD1 in the L-lysine degradation pathway. Genetic inhibition of DHTKD1 (upstream of GCDH) in Dhtkd1-/-/Gcdh-/- double knockout mice did not rescue the GA-I phenotype or prevent accumulation of glutaric acid in brain and liver, indicating that a DHTKD1-independent mechanism generates glutaryl-CoA substrates for GCDH. Gcdh-/- and Dhtkd1-/- mouse models, Dhtkd1-/-/Gcdh-/- double knockout, biochemical metabolite measurement (GA, 3-OHGA, glutarylcarnitine) in brain and liver Biochimica et biophysica acta. Molecular basis of disease High 28545977
2022 GCDH controls protein glutarylation (a post-translational modification); its knockdown induces NRF2 glutarylation, increasing NRF2 stability and DNA-binding activity, which transcriptionally upregulates ATF4, ATF3, DDIT3, and CHAC1, resulting in melanoma cell death. Inhibition of the upstream lysine catabolism enzyme DHTKD1 blocks GCDH-knockdown-induced cell death, confirming pathway placement. In vivo, inducible GCDH inactivation inhibits melanoma tumor growth. siRNA knockdown, in vivo inducible inactivation (mouse xenograft), glutarylation mass spectrometry, transcriptional reporter assays, DHTKD1 epistasis rescue experiments Nature cell biology High 36050469
2014 In the murine brain, L-pipecolate is the major L-lysine degradation product, generated predominantly via α-deamination along the pipecolate pathway. L-pipecolate oxidation was detectable only in brain peroxisomes (not mitochondria), and L-pipecolate oxidase activity was low, situating GCDH's substrates downstream of these pathways in brain lysine catabolism. Stable isotope-labeled L-lysine tracing in Gcdh-/- mice, purified brain peroxisome fractions, enzyme activity assays Journal of inherited metabolic disease Medium 25214427
2016 GCDH protein is localized to mitochondria and is expressed in a tissue- and cell-type-specific pattern. In rat embryos, GCDH is predominantly expressed in neurons of the central and peripheral nervous system. In adult rats, strong expression is found in liver, neurons of multiple brain regions, renal proximal tubules, intestinal mucosa, and peripheral nerves. Immunofluorescence microscopy with cell-type-specific markers in embryonic and adult rat tissues Neuroscience Medium 27984186
2020 The GCDH p.Val400Met variant is expressed as a non-functional apo (FAD-free) form that is predominantly monomeric rather than tetrameric. Exogenous FAD drives structural reorganization of the mutant enzyme with concomitant functional recovery, improved thermostability, and resistance to trypsin digestion, establishing FAD as essential for GCDH folding, oligomerization, and catalytic activity. Recombinant expression of human GCDH-p.Val400Met, biochemical activity assays, size-exclusion chromatography, thermal stability assays, trypsin digestion, FAD supplementation experiments International journal of molecular sciences High 32992790
2025 GCDH is acetylated at lysine 438 by acetyltransferase P300 and deacetylated by HDAC1. K438 acetylation is critical for GCDH's tumor-suppressive function in HCC. GCDH overexpression elevates mitochondrial ROS and reduces oxidative phosphorylation, triggering ATR/Chk1-mediated DNA damage repair dysfunction and autophagy. Western blot, overexpression/knockdown in HCC cells, ROS measurement, OXPHOS assay, ATR/Chk1 signaling analysis, P300/HDAC1 co-immunoprecipitation/identification Research (Washington, D.C.) Medium 40896397
2025 GCDH, together with DHTKD1, modulates intracellular glutaryl-CoA levels, which in turn regulate AKT1 glutarylation at conserved lysines K179 and K289. Glutarylation at K179 disrupts the K179-E198 salt bridge and AKT1-ATP interactions; K289 glutarylation perturbs ATP coordination and reduces PDK1-mediated phosphorylation, collectively inactivating AKT1. SIRT5 acts as the deglutarylase reversing this modification. GCDH overexpression suppresses AKT1 glutarylation and promotes oncogenic signaling. Mass spectrometry for glutarylation site mapping, mutagenesis of K179 and K289, in vitro AKT1 kinase assays, PDK1 phosphorylation assays, SIRT5 deglutarylation assay, cell proliferation and tumor growth assays Cell reports High 42207644
2025 GCDH controls histone crotonylation: GCDH silencing reduces global H3K27 crotonylation and specifically reduces H3K27 crotonylation at the GLS1 promoter, suppressing GLS1 transcription and glutaminolysis. Overexpression of wild-type GCDH, but not a catalytically inactive mutant, partially restores glutamate production and ATP, demonstrating that the effect depends on GCDH enzymatic activity. siRNA knockdown, ChIP for H3K27cr, luciferase reporter assays, Western blot, catalytically inactive mutant overexpression, metabolite quantification, xenograft mouse model Cancer management and research Medium 41438501
2025 YEATS2 maintains high promoter H3K27 crotonylation levels by recruiting crotonyltransferase p300 to the SPARC promoter; this H3K27cr mark addition is also dependent on GCDH as the crotonyl-CoA-producing enzyme, linking GCDH's enzymatic production of crotonyl-CoA to epigenetic regulation of EMT-promoting genes in head and neck cancer. ChIP, co-immunoprecipitation, luciferase reporter assays, GCDH knockdown, histone modification mass spectrometry eLife Medium 40810390
2024 Systemic neonatal delivery of AAV9-GCDH restores GCDH expression and enzyme activity in liver and striatum of Gcdh-/- mice, protects against high-lysine diet lethality, reduces accumulation of glutaric acid, 3-hydroxyglutaric acid, and glutarylcarnitine in tissues, and ameliorates striatal neuropathology (neuronal dysfunction, gliosis, myelination defects) as assessed by MRI. AAV9 gene delivery in Gcdh-/- mouse model, enzyme activity assays, metabolite quantification, MRI, histopathology Molecular therapy. Methods & clinical development High 38983872
2020 In Gcdh-/- mice, systemic inflammation induced by lipopolysaccharide (LPS) causes selective oxidative stress (elevated MDA, decreased GSH and antioxidant enzyme activities) in cerebral cortex and striatum but not in hippocampus, liver, or heart, demonstrating region-specific vulnerability of these brain structures in GCDH deficiency. High lysine diet combined with LPS exacerbated these effects and increased S100B and NF-κB in brain. LPS intraperitoneal injection in Gcdh-/- and WT mice on low/high lysine diet, tissue-specific measurement of MDA, GSH, GPx, GR, SOD, S100B, and NF-κB protein Neurotoxicity research Medium 33001399
2014 Gcdh-/- mice show overexpression of NMDA receptor subunits (NR2A, NR2B), AMPA (GluR2), and kainate (GluR6) receptor subunits, as well as glutamate transporters GLAST and GLT1, preferentially in striatum and cerebral cortex, with changes both at mRNA and protein level. High lysine intake further amplifies these changes, suggesting that accumulation of GCDH-deficiency metabolites drives glutamate receptor/transporter dysregulation in vulnerable brain regions. mRNA expression analysis, protein expression (Western blot) of glutamate receptors and transporters in Gcdh-/- vs WT mice at ages 7, 30, and 60 days, with and without high-lysine diet PloS one Medium 24594605

Source papers

Stage 0 corpus · 59 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2007 Contribution of the receptor guanylyl cyclase GC-D to chemosensory function in the olfactory epithelium. Proceedings of the National Academy of Sciences of the United States of America 164 17724338
2002 A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd. Human molecular genetics 105 12417526
1991 Germ-cell deficient (gcd), an insertional mutation manifested as infertility in transgenic mice. Proceedings of the National Academy of Sciences of the United States of America 84 1924340
1986 Multiple GCD genes required for repression of GCN4, a transcriptional activator of amino acid biosynthetic genes in Saccharomyces cerevisiae. Molecular and cellular biology 79 3540603
2017 Elevated glutaric acid levels in Dhtkd1-/Gcdh- double knockout mice challenge our current understanding of lysine metabolism. Biochimica et biophysica acta. Molecular basis of disease 44 28545977
2015 Effects of Soluble Phosphate on Phosphate-Solubilizing Characteristics and Expression of gcd Gene in Pseudomonas frederiksbergensis JW-SD2. Current microbiology 40 26573634
2013 The receptor guanylyl cyclase type D (GC-D) ligand uroguanylin promotes the acquisition of food preferences in mice. Chemical senses 38 23564012
2008 Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH). Human molecular genetics 35 18775954
1986 Identification and characterization of four new GCD genes in Saccharomyces cerevisiae. Current genetics 35 3329041
2022 NRF2 mediates melanoma addiction to GCDH by modulating apoptotic signalling. Nature cell biology 34 36050469
2018 Gcd Gene Diversity of Quinoprotein Glucose Dehydrogenase in the Sediment of Sancha Lake and Its Response to the Environment. International journal of environmental research and public health 32 30577417
2014 Understanding cerebral L-lysine metabolism: the role of L-pipecolate metabolism in Gcdh-deficient mice as a model for glutaric aciduria type I. Journal of inherited metabolic disease 30 25214427
1993 Germ cell deficient (gcd) mouse as a model of premature ovarian failure. Biology of reproduction 29 8373945
2015 Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients. JIMD reports 27 25762492
1993 Characterization of the gcd gene from Escherichia coli K-12 W3110 and regulation of its expression. Journal of bacteriology 27 8419307
2011 Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia. Human genetics 23 21912879
2014 Increased glutamate receptor and transporter expression in the cerebral cortex and striatum of gcdh-/- mice: possible implications for the neuropathology of glutaric acidemia type I. PloS one 21 24594605
2000 Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type I families. Human mutation 20 11058907
2014 Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation. JIMD reports 19 25256449
2000 Mutation analysis of the GCDH gene in Italian and Portuguese patients with glutaric aciduria type I. Molecular genetics and metabolism 18 11073722
2020 Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene. Metabolic brain disease 17 32240488
2016 Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues. Neuroscience 11 27984186
2020 Clinical, biochemical and molecular findings of 24 Brazilian patients with glutaric acidemia type 1: 4 novel mutations in the GCDH gene. Metabolic brain disease 9 33064266
2016 Clinical and Mutational Analysis of the GCDH Gene in Malaysian Patients with Glutaric Aciduria Type 1. BioMed research international 9 27672653
2001 Differential control by IHF and cAMP of two oppositely oriented genes, hpt and gcd, in Escherichia coli: significance of their partially overlapping regulatory elements. Molecular genetics and genomics : MGG 9 11810262
2022 Dynamics of phoD- and gcd-Harboring Microbial Communities Across an Age Sequence of Biological Soil Crusts Under Sand-Fixation Plantation. Frontiers in microbiology 8 35308398
2011 [Mutation analysis of GCDH gene in eight patients with glutaric aciduria type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 8 21811973
2020 Lipopolysaccharide-Elicited Systemic Inflammation Induces Selective Vulnerability of Cerebral Cortex and Striatum of Developing Glutaryl-CoA Dehydrogenase Deficient (Gcdh-/-) Mice to Oxidative Stress. Neurotoxicity research 7 33001399
2019 Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico. Molecular genetics and metabolism reports 7 31788423
2024 Systemic delivery of AAV-GCDH ameliorates HLD-induced phenotype in a glutaric aciduria type I mouse model. Molecular therapy. Methods & clinical development 6 38983872
2020 Renewal and Differentiation of GCD Necklace Olfactory Sensory Neurons. Chemical senses 6 32333759
2025 GCDH Acetylation Orchestrates DNA Damage Response and Autophagy via Mitochondrial ROS to Suppress Hepatocellular Carcinoma Progression. Research (Washington, D.C.) 5 40896397
2020 Functional Recovery of a GCDH Variant Associated to Severe Deflavinylation-Molecular Insights into Potential Beneficial Effects of Riboflavin Supplementation in Glutaric Aciduria-Type I Patients. International journal of molecular sciences 5 32992790
2019 Ammonium accumulation and chemokine decrease in culture media of Gcdh-/- 3D reaggregated brain cell cultures. Molecular genetics and metabolism 5 30686684
2015 [Mutation analysis of GCDH gene in four patients with glutaric academia type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 5 25863083
2025 Interplay of YEATS2 and GCDH regulates histone crotonylation and drives EMT in head and neck cancer. eLife 4 40810390
2023 Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review. Molecular genetics and genomics : MGG 4 36906724
2022 Identification of novel pathogenic variants in the GCDH gene and assessment of neurodevelopmental outcomes in 24 children with glutaric aciduria type 1. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 4 35662016
2020 The Oxidoreductase DsbA1 negatively influences 2,4-diacetylphloroglucinol biosynthesis by interfering the function of Gcd in Pseudomonas fluorescens 2P24. BMC microbiology 4 32093646
2018 Prenatal diagnosis of fetal glutaric aciduria type 1 with rare compound heterozygous mutations in GCDH gene. Taiwanese journal of obstetrics & gynecology 4 29458885
2012 [Analysis of clinical features and GCDH gene mutations in four patients with glutaric academia type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 4 23225040
2023 Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9. Stem cell research 3 36947993
2022 Treatment of glutaric aciduria type I (GA-I) via intracerebroventricular delivery of GCDH. Fundamental research 3 38933374
2021 A novel mutation in the glutaryl-CoA dehydrogenase gene (GCDH) in an Iranian patient affected with Glutaric acidemia type 1. Clinical case reports 3 34512980
2018 [Detection of GCDH mutations in five Chinese patients with glutaric acidemia type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 3 29419857
2013 Investigation of nasal CO₂ receptor transduction mechanisms in wild-type and GC-D knockout mice. Chemical senses 3 24122319
2021 Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene. Journal of pediatric neurosciences 2 34316315
2024 Clinical features and GCDH gene variants in three Chinese families with glutaric aciduria type 1: A case series and literature review. Molecular genetics and metabolism reports 1 39185018
2023 Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application. Genes 1 38137040
2018 [Analysis of GCDH gene mutations in 3 patients from Fujian area with glutaric academia type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 1 30298489
2026 Crotonylation-related gene GCDH promotes osteoarthritis pathogenesis through flavin adenine dinucleotide signaling: mechanism exploration and experimental validation. Frontiers in nutrition 0 41567337
2026 AKT1 glutarylation regulated by GCDH and SIRT5 suppresses oncogenic signaling. Cell reports 0 42207644
2025 Integrative multiomics elucidate crotonylation-associated GCDH in Parkinson's disease pathogenesis via metabolome remodeling. Mammalian genome : official journal of the International Mammalian Genome Society 0 40640550
2025 Glutaryl-CoA dehydrogenase (GCDH) enhances renal malignancy risk via modulating glutarylcarnitine levels. Discover oncology 0 41071420
2025 GCDH Promotes Breast Cancer Glutaminolysis Reprogramming by Inducing GLS1 Expression Through Histone Crotonylation at Its Promoter Region. Cancer management and research 0 41438501
2024 Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH. Stem cell research 0 38924972
2023 [A Case of Non-Hodgkin Lymphoma with Liver Involvement and Severe Jaundice That Benefited from Therapy with Gemcitabine, Carboplatin, Dexamethasone(GCD)Therapy with Rituximab]. Gan to kagaku ryoho. Cancer & chemotherapy 0 38056881
2022 [Analysis of GCDH gene variant in a child with Glutaric aciduria type I]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 34964964
2017 Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria. Clinical case reports 0 28781846

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