ArticleHuman genetics2009
Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation.
Article in Human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 30 citations in OpenAlex.
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- Glycerol 3-phosphate dehydrogenases (1 and 2) in cancer and other diseases.Experimental & molecular medicine · 2024Review
- New Mammalian Glycerol-3-Phosphate Phosphatase: Role in β-Cell, Liver and Adipocyte Metabolism.Frontiers in endocrinology · 2021Review
- The Regulatory Role of Mitochondrial MicroRNAs (MitomiRs) in Breast Cancer: Translational Implications Present and Future.Cancers · 2020Review
- Mitochondrial Damage Mediated by miR-1 Overexpression in Cancer Stem Cells.Molecular therapy. Nucleic acids · 2019Article
- Cellular and molecular characterization of multiplex autism in human induced pluripotent stem cell-derived neurons.Molecular autism · 2019Article
- A Novel Clinical Six-Flavoprotein-Gene Signature Predicts Prognosis in Esophageal Squamous Cell Carcinoma.BioMed research international · 2019Article
- Mir-132/212 is required for maturation of binocular matching of orientation preference and depth perception.Nature communications · 2017Article
- Cryptic de novo deletion at 2q23.3-q24.1 in a patient with intellectual disability.Journal of genetics · 2016Article
- Cell Type-Specific Effects of Mutant DISC1: A Proteomics Study.Molecular neuropsychiatry · 2016Article
- Mitochondrial FAD-linked Glycerol-3-phosphate Dehydrogenase: A Target for Cancer Therapeutics.Pharmaceuticals (Basel, Switzerland) · 2014Article
- Examination of bioenergetic function in the inner mitochondrial membrane peptidase 2-like (Immp2l) mutant mice.Redox biology · 2014Article
- A refined analysis of superoxide production by mitochondrial sn-glycerol 3-phosphate dehydrogenase.The Journal of biological chemistry · 2012Article
- NMDA receptor hypofunction induces dysfunctions of energy metabolism and semaphorin signaling in rats: a synaptic proteome study.Schizophrenia bulletin · 2012Article
- Balanced translocations in mental retardation.Human genetics · 2009Review
- Biosynthesis of glycerol phosphate is associated with long-term potentiation in hippocampal neurons.Metabolomics : Official journal of the Metabolomic SocietyArticle
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Authors and funding
15 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We have investigated the chromosome abnormalities in a female patient exhibiting mild nonsyndromic mental retardation. The patient carries a de novo balanced reciprocal translocation 46,XX,t(2;7)(q24.1;q36.1). Physical mapping of the breakpoints by fluorescent in situ hybridization experiments revealed the disruption of the GPD2 gene at the 2q24.1 region. This gene encodes the mitochondrial glycerophosphate dehydrogenase (mGPDH), which is located on the outer surface of the inner mitochondrial membrane, and catalyzes the unidirectional conversion of glycerol-3-phosphate (G3P) to dihydroxyacetone phosphate with concomitant reduction of the enzyme-bound FAD. Molecular and functional studies showed approximately a twofold decrease of GPD2 transcript level as well as decreased activity of the coded mGPDH protein in lymphoblastoid cell lines of the patient compared to controls. Bioinformatics analysis allowed us to confirm the existence of a novel transcript of the GPD2 gene, designated GPD2c, which is directly disrupted by the 2q breakpoint. To validate GPD2 as a new candidate gene for mental retardation, we performed mutation screening of the GPD2 gene in 100 mentally retarded patients; however, no mutations have been identified. Nevertheless, our results propose that a functional defect of the mGPDH protein could be associated with mental retardation, suggesting that GPD2 gene could be involved in mental retardation in some cases.
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