Affinage

GLDC

Glycine dehydrogenase (decarboxylating), mitochondrial · UniProt P23378

Length
1020 aa
Mass
112.7 kDa
Annotated
2026-04-28
66 papers in source corpus 22 papers cited in narrative 22 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

GLDC encodes glycine decarboxylase (P-protein), the rate-limiting component of the mitochondrial glycine cleavage system (GCS) that catalyzes the oxidative decarboxylation of glycine and supplies one-carbon units to folate metabolism (PMID:16450403, PMID:38761651). Loss-of-function mutations in GLDC cause nonketotic hyperglycinemia (NKH), with disease severity correlating directly with residual enzymatic activity; many pathogenic missense variants impair protein stability rather than catalytic function per se (PMID:15236413, PMID:28244183). GLDC copy-number gains reduce extracellular glycine in the hippocampal dentate gyrus, suppress NMDA receptor-dependent long-term potentiation, and produce schizophrenia-like behavioral deficits reversible by glycine supplementation (PMID:39210012, PMID:41361932). Beyond glycine catabolism, GLDC modulates antiviral innate immune signaling by suppressing IFNβ/ISG induction (PMID:30498026), promotes autophagy through acetylation-dependent interaction with VPS34 (PMID:41550650), and undergoes EGFR-SRC-FBXL3-mediated K63-linked polyubiquitination at K636 in the nucleus to repress MHC-I transcription and facilitate tumor immune evasion (PMID:41728086).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2000 High

    Establishing the genomic architecture and tissue expression of GLDC resolved the structural basis for subsequent mutation analysis, revealing a 25-exon gene with a processed pseudogene of high homology.

    Evidence Gene structure determination, primer extension, RNA blotting, and semi-quantitative PCR in human tissues

    PMID:10798358

    Open questions at the time
    • Regulatory elements controlling tissue-specific expression were not mapped
    • Pseudogene interference in diagnostic sequencing not fully addressed
  2. 2005 High

    Demonstration that both coding and silent GLDC mutations abolish enzyme activity through distinct mechanisms (translation initiation loss vs. aberrant splicing) established that GLDC deficiency arises through diverse molecular routes beyond missense disruption.

    Evidence GCS enzyme activity assays in patient lymphoblasts and tissue, RT-PCR of aberrant splice products, mRNA quantification

    PMID:15851735 PMID:15864413

    Open questions at the time
    • Quantitative relationship between residual splice product levels and clinical severity not systematically defined
  3. 2006 High

    Comprehensive mutation screening across dozens of NKH families identified the cofactor-binding Lys754 region as a mutation hotspot and established GLDC as the major disease gene for NKH, with residual activity directly correlating with phenotype severity.

    Evidence Sequencing of all GLDC exons in 69 NKH families; GCS enzyme activity in placental tissue; haplotype analysis

    PMID:16404748 PMID:16450403 PMID:16601880

    Open questions at the time
    • Structural basis for cofactor-binding site sensitivity not resolved at atomic level
    • Genotype-phenotype correlation not established for all variant classes
  4. 2017 High

    Systematic functional assessment of 19 missense variants revealed that many NKH-causing mutations act by destabilizing GLDC protein rather than directly impairing catalysis, identifying protein misfolding as a predominant disease mechanism and potential therapeutic target.

    Evidence COS7 cell expression of mutant GLDC cDNA, enzymatic activity assays, Western blot for protein levels, 3D structural modeling

    PMID:28244183 PMID:29046206

    Open questions at the time
    • No pharmacological chaperone rescue demonstrated
    • Crystal structure of human GLDC holoenzyme not available
  5. 2019 High

    Discovery that GLDC suppresses IFNβ and interferon-stimulated gene induction revealed an unexpected role for glycine metabolism in regulating antiviral innate immunity, extending GLDC function beyond amino acid catabolism.

    Evidence siRNA knockdown, AOAA inhibition, overexpression in human cells; IFN/ISG quantification; influenza viral replication assays in vitro and in BALB/c mice

    PMID:30498026

    Open questions at the time
    • Molecular mechanism connecting glycine metabolism to IFN signaling not identified
    • Whether the immune effect is glycine-dependent or reflects a moonlighting function is unknown
  6. 2024 High

    AAV9-mediated GLDC restoration in deficient mice normalized plasma and brain glycine and corrected folate one-carbon metabolism, providing direct in vivo proof that GLDC is rate-limiting for glycine catabolism and one-carbon supply, and establishing gene therapy feasibility for NKH.

    Evidence AAV9-GLDC gene therapy in GLDC-deficient mice with plasma/tissue glycine and folate metabolite profiling

    PMID:38761651

    Open questions at the time
    • Long-term durability and neurodevelopmental rescue not fully characterized
    • Therapeutic window relative to disease onset not defined
  7. 2024 High

    Chromosome-engineered mice with GLDC triplication demonstrated that excess GLDC reduces extracellular glycine in the dentate gyrus and selectively suppresses NMDA receptor-dependent LTP, linking GLDC gene dosage to synaptic plasticity and psychosis-like phenotypes.

    Evidence Allelic series in mice with optical FRET glycine measurement, electrophysiological LTP recordings, behavioral assays

    PMID:39210012

    Open questions at the time
    • Whether human GLDC CNVs produce equivalent glycine reduction is not demonstrated
    • Cell-type specificity of GLDC overexpression effects in hippocampus not resolved
  8. 2025 Medium

    Glycine supplementation rescued all major behavioral deficits in GLDC-triplication mice, confirming the causal chain from excess GLDC → glycine depletion → NMDA hypofunction → psychosis-related behaviors.

    Evidence Oral glycine supplementation in 4-copy Gldc transgenic mice with Y-maze, PPI, social interaction, and latent inhibition assays

    PMID:41361932

    Open questions at the time
    • Dose-response relationship not established
    • Translation to human GLDC CNV carriers not tested
  9. 2025 Medium

    Identification of GLDC as a direct VPS34-binding partner that promotes autophagy via Beclin1/ATG14 complex formation — dependent on GLDC acetylation at K514 — established a non-metabolic moonlighting function in autophagy regulation.

    Evidence Reciprocal Co-IP, K514R mutagenesis, autophagy flux assays, xenograft models in hepatocellular carcinoma

    PMID:41550650

    Open questions at the time
    • Acetyltransferase responsible for K514 acetylation not identified
    • Whether this interaction occurs outside cancer cells is unknown
    • Structural basis of GLDC–VPS34 interaction not resolved
  10. 2026 Medium

    Discovery that EGFR-SRC signaling triggers FBXL3-mediated K63-linked polyubiquitination of nuclear GLDC at K636, enabling GLDC to recruit SMARCE1/DMAP1 and suppress STAT1-driven MHC-I transcription, revealed a non-canonical nuclear signaling role for GLDC in tumor immune evasion.

    Evidence Co-IP, K63-linkage-specific ubiquitination assays, FBXL3 Y306 and GLDC K636 mutagenesis, MHC-I expression analysis, CD8+ T cell killing assays

    PMID:41728086

    Open questions at the time
    • Mechanism of GLDC nuclear import not defined
    • Whether nuclear GLDC retains decarboxylase activity is unknown
    • Independent replication by another lab not yet reported

Open questions

Synthesis pass · forward-looking unresolved questions
  • Key unresolved questions include the atomic structure of human GLDC, the molecular pathway linking glycine metabolism to IFN signaling, the acetyltransferase controlling K514, the mechanism of GLDC nuclear translocation, and whether the autophagy and immune-evasion functions of GLDC operate independently of its decarboxylase activity.
  • No high-resolution crystal or cryo-EM structure of human GLDC
  • Metabolic vs. moonlighting functions not genetically separated
  • In vivo relevance of K636 ubiquitination in immunotherapy resistance not tested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016829 lyase activity 5 GO:0016491 oxidoreductase activity 2
Localization
GO:0005739 mitochondrion 3 GO:0005634 nucleus 1
Pathway
R-HSA-1430728 Metabolism 4 R-HSA-1643685 Disease 4 R-HSA-168256 Immune System 2 R-HSA-9612973 Autophagy 1
Partners
BECN1DMAP1FBXL3GCSHSMARCE1VPS34
Complex memberships
glycine cleavage system (GCS)

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 GLDC encodes the P-protein (glycine decarboxylase) component of the glycine cleavage multi-enzyme system (GCS); mutations in GLDC cause deficiency of this system leading to glycine accumulation in nonketotic hyperglycinemia (NKH). The cofactor-binding site Lys754 (encoded by exon 19) is critical, as 7 of 32 missense mutations clustered there. Comprehensive mutation screening and sequencing of all GLDC exons in 69 NKH families; haplotype analysis Human mutation High 16450403
2000 The GLDC gene spans ≥135 kb, consists of 25 exons, and is expressed in liver, kidney, brain, and placenta. A processed pseudogene (psiGLDC) with 97.5% coding-region homology exists, arising ~4–8 million years ago from the GLDC transcript. Gene structure determination, primer extension for transcription start site, RNA blotting, semi-quantitative PCR using psiGLDC as internal control Human genetics High 10798358
2004 A homozygous GLDC A802V missense mutation results in ~32% residual glycine cleavage system activity compared to wild type, producing a milder/transient NKH phenotype, demonstrating a direct correlation between residual GLDC enzymatic activity and disease severity. GCS enzyme activity assay in patient tissue; mutation identification by sequencing Annals of neurology Medium 15236413
2005 A silent exonic transversion (c.2607C>A) in GLDC exon 22 causes missplicing, producing three aberrantly spliced mRNA species (exon 22 skipping, exon 22–23 skipping, and 87-bp cryptic exon insertion), reducing GLDC mRNA levels and glycine decarboxylase expression; ~4–6% residual normally-spliced mRNA correlated with a milder clinical outcome. Northern blot, RT-PCR identification of aberrant splice products, homozygosity mapping Neurology High 15851735
2006 GLDC missense mutations cause loss of GCS P-protein function; pathogenic variants were identified throughout the coding sequence with large deletions (including exon 1) being recurrent across multiple ethnic groups with multiple independent origins. DHPLC and sequencing of complete GLDC coding sequence in 28 unrelated NKH patients Journal of inherited metabolic disease Medium 16601880
2006 Treatment of NKH (caused by a novel homozygous GLDC c.482A>G (Y161C) missense mutation) from birth shows severely reduced GCS activity (2.6% of controls) in placental tissue and markedly elevated CSF glycine at birth, demonstrating prenatal onset of glycine accumulation due to GLDC deficiency. GCS enzyme activity assay in placental tissue; CSF and blood glycine measurement; mutation sequencing Annals of neurology Medium 16404748
2017 Nineteen GLDC missense variants were functionally assessed by expressing mutant cDNA constructs in COS7 cells; enzymatic assays and Western blot revealed that many loss-of-function mutations cause protein instability rather than direct catalytic disruption, identifying these as potential targets for folding-rescue therapies. Structural modeling of the 3D GCS P-protein provided mechanistic interpretation. Mutant cDNA expression in COS7 cells, enzymatic activity assay, Western blot for protein stability, molecular modeling of 3D structure Human mutation High 28244183
2019 GLDC regulates cellular antiviral innate immune responses: GLDC inhibition (with AOAA) or siRNA knockdown boosted IFNβ and IFN-stimulated gene expression upon poly-I:C stimulation or influenza virus infection, and suppressed H1N1/H7N9 replication; GLDC overexpression attenuated antiviral responses and promoted viral replication. siRNA knockdown, pharmacological inhibition (AOAA), overexpression, IFN/ISG quantification, viral replication assay in vitro and in vivo (BALB/c mice) EMBO molecular medicine High 30498026
2024 Triplication of the GLDC gene (as found on a small supernumerary marker chromosome in patients with psychosis) reduces extracellular glycine levels in the dentate gyrus (measured by optical FRET), suppresses long-term potentiation (LTP) specifically at mPP-DG synapses but not CA3-CA1 synapses, and produces schizophrenia-like behavioral deficits in mice, demonstrating that GLDC negatively regulates synaptic glycine availability and hippocampal synaptic plasticity. Chromosome-engineered allelic series in mice, optical FRET for extracellular glycine, electrophysiological LTP recording, behavioral assays Molecular psychiatry High 39210012
2025 Glycine administration (1.3 g/kg in drinking water) reversed startle habituation, spatial working memory, sociability, and latent inhibition deficits in mice with 4 copies of Gldc, confirming that behavioral phenotypes from GLDC triplication are caused by reduced extracellular glycine and consequent NMDA receptor hypofunction. Oral glycine supplementation in 4-copy Gldc transgenic mice; behavioral assays (Y-maze, prepulse inhibition, social interaction, latent inhibition) Pharmacology research & perspectives Medium 41361932
2016 Epigenetic silencing of GLDC via promoter hypermethylation in gastric cancer cells leads to reduced GLDC expression; GLDC knockdown increased cell proliferation, migration, invasion, and colony formation while reducing apoptosis, identifying GLDC as a putative tumor suppressor in gastric cancer. Promoter methylation analysis, GLDC knockdown in GC cell lines, proliferation/migration/invasion/apoptosis assays Anticancer research Medium 26722042
2023 GLDC promotes colorectal cancer cell invasion and migration by inhibiting the Hippo signaling pathway and thereby promoting epithelial-mesenchymal transition (EMT); blocking Hippo signaling with verteporfin reduced GLDC-driven metastasis, and tail vein injection of GLDC-overexpressing cells induced more lung metastasis in vivo. In vitro invasion/migration assays, Hippo pathway inhibition, in vivo tail vein injection metastasis model Medical oncology Medium 37668829
2025 GLDC interacts directly with VPS34 (PI3-kinase); GLDC overexpression upregulates VPS34 protein and promotes VPS34 interaction with the Beclin1/ATG14 complex to induce autophagy, thereby suppressing EMT and tumor growth in hepatocellular carcinoma. GLDC acetylation at K514 is required for GLDC–VPS34 interaction; the K514R acetylation-dead mutant abolished binding. Co-immunoprecipitation, site-directed mutagenesis (K514R), overexpression/knockdown with proliferation/migration assays, in vivo xenograft, autophagy flux assays Pharmaceutical science advances Medium 41550650
2026 Upon EGFR activation, SRC phosphorylates FBXL3 at Y306, enabling FBXL3 to interact with nuclear GLDC and catalyze K63-linked polyubiquitination of GLDC at K636; K63-ubiquitinated GLDC then interacts with SMARCE1/DMAP1 to inhibit STAT1-driven transcription of MHC-I genes, promoting tumor immune evasion from CD8+ T cells. Co-immunoprecipitation, site-directed mutagenesis (FBXL3 Y306, GLDC K636), ubiquitination assays (K63-linkage specific), MHC-I expression analysis, CD8+ T cell killing assays, SRC inhibitor treatment Cell insight Medium 41728086
2025 GLDC overexpression in proximal tubular cells protects against cisplatin-induced apoptosis, cellular senescence, and ROS production via upregulation of mitochondrial uncoupling protein UCP1; UCP1 knockdown reversed the protective effects of GLDC overexpression, placing UCP1 downstream of GLDC in this pathway. GLDC overexpression and knockdown in HK-2 cells, UCP1 knockdown epistasis, apoptosis/senescence/ROS assays, cisplatin-induced AKI mouse model with AOAA inhibitor Life sciences Medium 40010632
2024 AAV9-mediated expression of mouse or human GLDC in GLDC-deficient mice restored GLDC mRNA and protein, significantly lowered plasma and brain tissue glycine, and normalized the folate one-carbon metabolism profile (including betaine and choline), demonstrating that GLDC is the rate-limiting enzyme for glycine catabolism and glycine-derived one-carbon supply to folate metabolism in vivo. AAV9 gene therapy in GLDC-deficient mice, RT-PCR and Western blot for GLDC expression, plasma/tissue glycine measurement, folate metabolite profiling Molecular genetics and metabolism High 38761651
2025 In attenuated NKH mutant mice with a 1.5-fold increase in brain glycine, GLDC protein is reduced >5-fold, accompanied by decline in GCSH (mitochondrial lipoyl-transfer protein) and reduced lipoylation of the pyruvate dehydrogenase (PDH) complex, with concomitant increase in astrocyte mitochondrial β-oxidation of fatty acids and activation of neuronal PDH, suggesting GLDC remodels mitochondrial energy metabolism in the brain. Biochemical pathway analysis in mouse brain tissue, protein quantification (Western blot), metabolomics in NKH mouse models bioRxivpreprint Low bio_10.1101_2025.07.12.664515
2025 GLDC downregulation in cardiomyocytes attenuates hypoxia/reperfusion injury by activating Akt signaling and inactivating NF-κB signaling, reducing apoptosis and inflammatory responses; GLDC levels were elevated in I/R mouse hearts and H/R-exposed cardiomyocytes. GLDC knockdown in H9C2 cells, Akt and NF-κB pathway analysis by Western blot, in vivo mouse I/R model with AOAA inhibitor, apoptosis and inflammation assays Scientific reports Medium 39747134
2025 GLDC promotes PTBP1 degradation via the autophagy pathway; reduced GLDC expression in liver ischemia-reperfusion injury promotes macrophage infiltration through a PTBP1/P2RY6 axis; GLDC overexpression inhibits macrophage recruitment and activation, reducing liver injury. GLDC overexpression in vivo (mouse LIRI model), macrophage infiltration assays, autophagy pathway analysis for PTBP1 degradation, Co-IP for PTBP1/P2RY6 interaction Cellular signalling Low 40617371
2017 H293T cells transfected with GLDC missense mutants (c.3006C>G p.C1002W and c.1256C>G p.S419X) showed downregulated glycine decarboxylase activity, directly confirming the pathogenicity of these mutations through loss of enzymatic function. Transfection of mutant GLDC constructs in H293T cells, glycine decarboxylase activity assay Zhongguo dang dai er ke za zhi Medium 29046206
2005 A single nucleotide substitution abolishing the initiator methionine codon of GLDC leads to markedly reduced GLDC mRNA levels and complete abolition of glycine cleavage system activity in patient lymphoblasts, establishing that translation initiation is essential for GLDC function. mRNA quantification, GCS enzyme activity measurement in lymphoblasts, mutation sequencing Journal of human genetics Medium 15864413
2025 rAAV9-mediated delivery of GLDC in a humanized CRISPR-Cas9 NKH mouse model confers 100% protection against disease and death, restores astrogenesis without inflammatory response, and demonstrates long-term systemic efficacy over 5–10 months. rAAV9-GLDC gene therapy in humanized CRISPR-edited NKH mice, GFP tracking, astrocyte/glial cell quantification, survival analysis bioRxivpreprint Medium bio_10.1101_2025.03.26.645560

Source papers

Stage 0 corpus · 66 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1986 The relationship of CD16 (Leu-11) and Leu-19 (NKH-1) antigen expression on human peripheral blood NK cells and cytotoxic T lymphocytes. Journal of immunology (Baltimore, Md. : 1950) 1095 3086432
1990 Plasma cells in multiple myeloma express a natural killer cell-associated antigen: CD56 (NKH-1; Leu-19). Blood 273 1695113
1989 Involvement of CD56 (NKH-1/Leu-19 antigen) as an adhesion molecule in natural killer-target cell interaction. The Journal of experimental medicine 147 2478655
2010 Glycine and a glycine dehydrogenase (GLDC) SNP as citalopram/escitalopram response biomarkers in depression: pharmacometabolomics-informed pharmacogenomics. Clinical pharmacology and therapeutics 119 21107318
1987 Expression of Leu-19 (NKH-1) antigen on IL 2-dependent cytotoxic and non-cytotoxic T cell lines. Journal of immunology (Baltimore, Md. : 1950) 91 2951430
2006 Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Human mutation 80 16450403
2016 The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT. Genetics in medicine : official journal of the American College of Medical Genetics 75 27362913
2000 Cloning and characterization of the Flavobacterium johnsoniae gliding-motility genes gldB and gldC. Journal of bacteriology 58 10648514
2006 Treatment from birth of nonketotic hyperglycinemia due to a novel GLDC mutation. Annals of neurology 42 16404748
2004 Persistent NKH with transient or absent symptoms and a homozygous GLDC mutation. Annals of neurology 40 15236413
2000 Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (psiGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic hyperglycinemia. Human genetics 32 10798358
2006 Genetic heterogeneity of the GLDC gene in 28 unrelated patients with glycine encephalopathy. Journal of inherited metabolic disease 30 16601880
2016 Epigenetic Silencing of the Putative Tumor Suppressor Gene GLDC (Glycine Dehydrogenase) in Gastric Carcinoma. Anticancer research 26 26722042
2005 Mild glycine encephalopathy (NKH) in a large kindred due to a silent exonic GLDC splice mutation. Neurology 25 15851735
2001 Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): a strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH). Molecular genetics and metabolism 25 11286506
2017 Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. International journal of cancer 24 29210060
1988 Immunophenotype of small cell lung carcinoma. Expression of NKH-1 and transferrin receptor and absence of most myeloid antigens. Cancer 24 2844386
1992 Expression of CD56 (NKH-1) differentiation antigen in human thyroid epithelium. Clinical and experimental immunology 23 1381304
2019 Identification and characterization of GLDC as host susceptibility gene to severe influenza. EMBO molecular medicine 21 30498026
2011 Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene. Molecular genetics and metabolism 21 21411353
2004 Adult nonketotic hyperglycinemia (NKH) crisis presenting as severe chorea and encephalopathy. Movement disorders : official journal of the Movement Disorder Society 20 15077252
2002 Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia. Annals of neurology 20 12402263
1990 Expansion of large granular lymphocytes (natural killer cells) with limited antigen expression (CD2+, CD3-, CD4-, CD8-, CD16+, NKH-1-) in a human immunodeficiency virus-positive homosexual man. Cancer 20 2346908
2023 Glycine Decarboxylase (GLDC) Plays a Crucial Role in Regulating Energy Metabolism, Invasion, Metastasis and Immune Escape for Prostate Cancer. International journal of biological sciences 18 37781511
2013 Characteristic MRI findings in neonatal nonketotic hyperglycinemia due to sequence changes in GLDC gene encoding the enzyme glycine decarboxylase. Metabolic brain disease 17 23712728
2017 Nonketotic hyperglycinemia: Functional assessment of missense variants in GLDC to understand phenotypes of the disease. Human mutation 15 28244183
2016 7-Chlorofolipastatin, an inhibitor of sterol O-acyltransferase, produced by marine-derived Aspergillus ungui NKH-007. The Journal of antibiotics 15 26980608
2005 A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem. Journal of human genetics 15 15864413
1988 Similarities between LAK cells derived from human thymocytes and peripheral blood lymphocytes: expression of the NKH-1 and CD3 antigens. Cellular immunology 15 2967111
1993 Anti-NKH-1 antibody specifically stains unmyelinated fibres and non-myelinating Schwann cell columns in humans. Neuropathology and applied neurobiology 14 7510048
2019 Identification of a new GLDC gene alternative splicing variant and its protumorigenic roles in lung cancer. Future oncology (London, England) 11 31773974
2003 Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH). Molecular genetics and metabolism 11 12948742
2000 Non-concordance of CVS and liver glycine cleavage enzyme in three families with non-ketotic hyperglycinaemia (NKH) leading to false negative prenatal diagnoses. Prenatal diagnosis 11 10820402
2014 Late-onset nonketotic hyperglycinemia with a heterozygous novel point mutation of the GLDC gene. Pediatric neurology 9 24731848
2024 An increased copy number of glycine decarboxylase (GLDC) associated with psychosis reduces extracellular glycine and impairs NMDA receptor function. Molecular psychiatry 7 39210012
2018 A novel compound heterozygous variant identified in GLDC gene in a Chinese family with non-ketotic hyperglycinemia. BMC medical genetics 7 29304759
2024 AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia. Molecular genetics and metabolism 6 38761651
2023 GLDC promotes colorectal cancer metastasis through epithelial-mesenchymal transition mediated by Hippo signaling pathway. Medical oncology (Northwood, London, England) 6 37668829
2022 Genetic variants in ALDH1L1 and GLDC influence the serine-to-glycine ratio in Hispanic children. The American journal of clinical nutrition 6 35460232
2020 Evaluation of LKB1 and Serine-Glycine Metabolism Pathway Genes (SHMT1 and GLDC) Expression in AML. Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 5 33867731
2017 Clinical heterogeneity of glycine encephalopathy in three Palestinian siblings: A novel mutation in the glycine decarboxylase (GLDC) gene. Brain & development 5 28325525
1991 Identity of brain-associated small cell lung cancer antigen and the CD56 (NKH-1/Leu-19) leukocyte differentiation antigen and the neural cell adhesion molecule. Japanese journal of clinical oncology 5 1719260
1989 Identification of CD16/NKH-1+ natural killer cells and their relevance to cutaneous tumour immunity. The British journal of dermatology 5 2480804
1989 Use of placental enzyme analysis in assessment of the newborn at risk for non-ketotic hyperglycinaemia (NKH). Journal of inherited metabolic disease 5 2515368
2017 [Clinical and genetic analyses of a family with atypical nonketotic hyperglycinemia caused by compound heterozygous mutations in the GLDC gene]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 4 29046206
2016 Mutation analysis of GLDC, AMT and GCSH in cataract captive-bred vervet monkeys (Chlorocebus aethiops). Journal of medical primatology 4 27325422
2016 Two Novel GLDC Mutations in a Neonate with Nonketotic Hyperglycinemia. Journal of pediatric genetics 4 27617160
2014 Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing. Metabolic brain disease 4 24407464
2025 GLDC alleviates cisplatin-induced apoptosis, cellular senescence, and production of reactive oxygen species via regulating UCP1 in the kidney. Life sciences 3 40010632
2021 Novel GLDC Compound Heterozygous Variant Leading to Nonketotic Hyperglycinemia: Case Report and Literature Review. Frontiers in pediatrics 3 34513771
2019 Generation and characterization of a human iPSC line (UAMi005-A) from a patient with nonketotic hyperglycinemia due to mutations in the GLDC gene. Stem cell research 3 31349202
2008 Identification of Saccharomyces cerevisiae Tub1 alpha-tubulin as a potential target for NKH-7, a cytotoxic 1-naphthol derivative compound. Bioscience, biotechnology, and biochemistry 3 18391444
1990 Natural killer (NKH-1+) cell number and activity in health and disease. Medical laboratory sciences 3 2381267
2025 Downregulation of Gldc attenuates myocardial ischemia reperfusion injury in vitro by modulating Akt and NF-κB signalings. Scientific reports 2 39747134
2023 Novel homozygous GLDC variant causing late-onset glycine encephalopathy: A case report and updated review of the literature. Molecular genetics and metabolism reports 2 36817643
2008 Non-ketotic hyperglycinemia with a novel GLDC mutation in a Taiwanese child. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 2 18581728
2025 The precise molecular diagnosis of novel GLDC compound heterozygous variants highlights the benefits for a Chinese family with nonketotic hyperglycinemia. Molecular genetics and metabolism reports 1 40225406
2025 Glycine Reverses Behavioral Deficits in a Mouse Model for Psychosis With 4 Copies of the Gldc Gene. Pharmacology research & perspectives 1 41361932
2025 GLDC interacts with VPS34 to inhibit tumorigenesis and epithelial-mesenchymal transition in hepatocellular carcinoma. Pharmaceutical science advances 1 41550650
2024 H3K27 Acetylation-Activated GLDC Accelerated the Advancement of Oral Squamous Cell Carcinoma by Suppressing the p53 Signaling Pathway. Environmental toxicology 1 39415627
2026 Phosphorylation of FBXL3 mediates GLDC polyubiquitination to suppress MHC-I expression and promote cancer immune evasion. Cell insight 0 41728086
2025 GLDC attenuates liver ischemia-reperfusion injury by inhibiting macrophage recruitment and activation via PTBP1/P2RY6. Cellular signalling 0 40617371
2025 Possible Founder Effect of Glycine Encephalopathy: Evidence of a GLDC c.2714T>G (p.Val905Gly) Common Variant in the Paisa Community Based in Cali, Colombia. American journal of medical genetics. Part A 0 40717329
2024 Homozygosity for disease-causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia. American journal of medical genetics. Part A 0 38572626
2023 A marker chromosome in psychosis identifies glycine decarboxylase (GLDC) as a novel regulator of neuronal and synaptic function in the hippocampus. bioRxiv : the preprint server for biology 0 37398055
1990 [Acute lymphocytic leukemia having surface phenotype of CD 2 and NKH-1 with rapid clinical course]. [Rinsho ketsueki] The Japanese journal of clinical hematology 0 1699009