ArticleJournal of inherited metabolic disease2006
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency.
Article in Journal of inherited metabolic disease, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 27 citations in OpenAlex.
- Central Dysmyelination in SSADH-Deficient Humans and Mice.Annals of clinical and translational neurology · 2025Observational
- Imaging Epilepsy: Past, Passing, and to Come.Epilepsy currents · 2025Review
- Delays in latencies of median-nerve evoked magnetic fields in patients with succinic semialdehyde dehydrogenase deficiency.Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology · 2024Article
- Understanding the Molecular Mechanisms of Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): Towards the Development of SSADH-Targeted Medicine.International journal of molecular sciences · 2022Review
- Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.Journal of child neurology · 2021Article
- Review
- Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases.Journal of inherited metabolic disease · 2018Review
- mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Journal of inherited metabolic disease · 2016Article
- Cerebellar output in zebrafish: an analysis of spatial patterns and topography in eurydendroid cell projections.Frontiers in neural circuits · 2013Article
- Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.Antioxidants & redox signaling · 2011Review
- Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.BMC developmental biology · 2008Article
- Variation in Galr1 expression determines susceptibility to exocitotoxin-induced cell death in mice.Genes, brain, and behavior · 2008Article
- Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.CNS spectrums · 2008Article
- Non-P450 aldehyde oxidizing enzymes: the aldehyde dehydrogenase superfamily.Expert opinion on drug metabolism & toxicology · 2008Review
- Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism.Journal of inherited metabolic disease · 2008Review
- Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.Journal of inherited metabolic disease · 2007Article
- Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology.Journal of inherited metabolic disease · 2007Article
- Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.Biochimica et biophysica acta · 2007Article
- Inherited disorders of GABA metabolism.Future neurology · 2006Article
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 3 countries.
Funding
Abstract
Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH(-/-) mice), manifests early absence seizures that evolve into generalized convulsive seizures and lethal status epilepticus in gene-ablated mice. Disrupted GABA homeostasis, in conjunction with the epileptic phenotype and increased gamma-hydroxybutyric acid (GHB), suggested that expression profiling with the U74Av2 Affymetrix system would reveal dysregulation of receptor genes associated with GABAergic and glutamatergic neurotransmission. Unexpectedly, we found significant downregulation for genes associated with myelin biogenesis and compaction, predominantly in hippocampus and cortex. These results were confirmed by: (1) myelin basic protein (MBP) immunohistochemistry; (2) western blotting of myelin-associated glycoprotein (MAG) and MBP; (3) qRT-PCR analyses of myelin-associated oligodendrocytic basic protein (MOBP), MAG, MBP and proteolipid protein (PLP) in hippocampus, cortex and spinal cord; (4) quantitation of ethanolamine and choline plasmalogens, all core myelin components; (5) evaluation of myelin content in brain sections employing toluidine blue staining; and (6) ultrastructural evaluation of myelin sheath thickness via electron microscopy. We speculate that increased GABA/GHB, acting through GABAergic systems, results in decreased levels of the neurosteroids progesterone and allopregnanolone [Gupta et al (2003) Ann Neurol 54(Supplement 6): S81-S90] and phosphorylation of mitogen-activated protein (MAP) kinase, with resulting myelin protein abnormalities primarily in the cortex of SSADH(-/-) mice.
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