Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
about
Novel homodimeric and heterodimeric rat gamma-hydroxybutyrate synthases that associate with the Golgi apparatus define a distinct subclass of aldo-keto reductase 7 family proteinsA ketogenic diet rescues the murine succinic semialdehyde dehydrogenase deficient phenotypeUnravelling the brain targets of gamma-hydroxybutyric acidRedox-switch modulation of human SSADH by dynamic catalytic loopThe X-Ray Crystal Structure of Escherichia coli Succinic Semialdehyde Dehydrogenase; Structural Insights into NADP+/Enzyme InteractionsGABA transaminases from Saccharomyces cerevisiae and Arabidopsis thaliana complement function in cytosol and mitochondria.Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenaseThe pediatric neurotransmitter disordersAltered cerebral glucose and acetate metabolism in succinic semialdehyde dehydrogenase-deficient mice: evidence for glial dysfunction and reduced glutamate/glutamine cyclingLipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterationsSuccinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significanceMutants of GABA transaminase (POP2) suppress the severe phenotype of succinic semialdehyde dehydrogenase (ssadh) mutants in Arabidopsis.Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during developmentSuccinic semialdehyde dehydrogenase deficiency: lessons from mice and menAberrant GABA(A) receptor-mediated inhibition in cortico-thalamic networks of succinic semialdehyde dehydrogenase deficient mice.Augmentation of Tonic GABA(A) Inhibition in Absence Epilepsy: Therapeutic Value of Inverse Agonists at Extrasynaptic GABA(A) ReceptorsThirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Effect of gene dosage on single-cell hippocampal electrophysiology in a murine model of SSADH deficiency (gamma-hydroxybutyric aciduria).Cerebellar atrophy in human and murine succinic semialdehyde dehydrogenase deficiencyEpilepsy in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.Role of human aldehyde dehydrogenases in endobiotic and xenobiotic metabolism.Plasticity of postsynaptic, but not presynaptic, GABAB receptors in SSADH deficient mice.Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patientsCircadian distribution of generalized tonic-clonic seizures associated with murine succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.SSADH deficiency leads to elevated extracellular GABA levels and increased GABAergic neurotransmission in the mouse cerebral cortex.The effects of a ketogenic diet on ATP concentrations and the number of hippocampal mitochondria in Aldh5a1(-/-) mice.Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiencyCatabolism of 4-hydroxyacids and 4-hydroxynonenal via 4-hydroxy-4-phosphoacyl-CoAs.Identification of quantitative trait transcripts for growth traits in the large scales of liver and muscle samples.Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition.Succinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolismNeurobiological bases of autism-epilepsy comorbidity: a focus on excitation/inhibition imbalance.Therapeutic relevance of mTOR inhibition in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.New insights into {gamma}-aminobutyric acid catabolism: Evidence for {gamma}-hydroxybutyric acid and polyhydroxybutyrate synthesis in Saccharomyces cerevisiae.The Pivotal Role of Aldehyde Toxicity in Autism Spectrum Disorder: The Therapeutic Potential of Micronutrient Supplementation.mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.A unique mouse model for succinic semialdehyde dehydrogenase deficiency with implications for gamma hydroxybutyrate intoxication.GABA shunt deficiencies and accumulation of reactive oxygen intermediates: insight from Arabidopsis mutants.Toxicologic/transport properties of NCS-382, a γ-hydroxybutyrate (GHB) receptor ligand, in neuronal and epithelial cells: Therapeutic implications for SSADH deficiency, a GABA metabolic disorder.A human derived SSADH coding variant is replacing the ancestral allele shared with primates.
P2860
Q24534506-3CAF1FA0-A7E2-4C25-A087-5F11A55DAE85Q24650359-473987BF-7FED-484D-A0DF-B2E3618AE228Q24670043-BDBDE320-6AAC-4CA7-BF9E-366F67D3D89CQ27654216-724820FC-E0FA-4ABF-ABEB-092B64B633E9Q27659983-4D6C48CF-49BE-406E-BBB8-10DE982EAF89Q27939179-0023EE48-CB99-4BB7-B328-4D83985D81EFQ28204777-8AD93A3E-8560-44DD-877C-2772B5F6BC92Q28240100-A771E659-8F54-4DCB-8915-FE0E7B5198C5Q28508463-BE30F9EC-D5AB-4921-A500-3361AAF89090Q28510652-A10FF5E6-01A3-419A-B65D-31D0002EF02BQ28743137-96BCAD81-4D03-4F14-99E0-CCBF5B2C6BB1Q33375051-2235890D-94BF-4A4D-88ED-AE0E433135E0Q33387965-2277A29D-56BB-4568-BA55-FFB53E5681A6Q33403217-F3D4DA8C-9805-4123-8823-63F0C35CAC4DQ33883592-04581FF9-747B-4ECA-A3D5-D08B32D4D99FQ34017529-C126C35D-77B7-4CD5-8B48-1343AB99E098Q35146643-BD048CDF-5A74-4CD9-9181-9E903F28CAFBQ35162336-4CF507F3-F448-4B5A-8492-029BFD78A844Q35162360-AF1F3925-A8EB-4A0F-87CD-424A7C73FBADQ35268407-2426563C-4AED-49A1-BA87-E52FDEBCDEF8Q35828024-41514FB6-1E82-45B5-A96C-54467769C572Q36845652-6940943C-F2B5-41F1-8E5D-A0218B40EA88Q36925650-FCFF4A99-16F7-40ED-98B4-7CB8FB436AD1Q36953244-ACD3800A-402D-4A8C-9059-D2491D61014EQ37001146-08FAB5ED-FF89-4065-9B00-EA882F0DA8F2Q37107281-C86FD883-B5B0-448E-9B63-053A19394ED1Q37133507-69CBC6E9-F184-4730-97B8-BC6838EEBB5BQ37446216-5E305D13-027B-4AAE-9284-637C48DEF461Q38464033-C98F810A-0D50-463F-85D7-5A5739C898D2Q38833154-A8823622-EFC1-4BFF-9388-4DF590FFC527Q38852149-BF9E8400-3C60-4D3A-B1D3-42AD08B34692Q39269008-C0478061-6163-478E-9800-57F30187B8CCQ39270485-CDDCF6F6-B507-4FCE-AE14-8953A22294D0Q41876565-426597EF-54BA-4F34-ACB3-DA47DF851467Q41913940-FB24C368-ECC4-472A-90ED-E17C5514A092Q42753348-FB762F48-CB80-4E00-8318-C842AFC65F5EQ43979774-C7AF9834-1DD0-437B-92B8-0E3DACAE51DCQ45218389-99DE37ED-B270-43B8-B5DE-C8D66D0109C9Q46285756-FF9F64A9-17B7-40E1-8CFE-7837A55A3258Q46517269-543FF65A-08C5-4D06-8FAA-51EC52E4CCE7
P2860
Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase
description
2001 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
articolo scientifico
@it
artículu científicu espublizáu en 2001
@ast
im Oktober 2001 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2001/10/01)
@sk
vědecký článek publikovaný v roce 2001
@cs
wetenschappelijk artikel (gepubliceerd op 2001/10/01)
@nl
наукова стаття, опублікована в жовтні 2001
@uk
name
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@ast
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@en
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@nl
type
label
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@ast
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@en
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@nl
prefLabel
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@ast
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@en
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@nl
P2093
P356
P1433
P1476
Pharmacologic rescue of lethal ...... ate semialdehyde dehydrogenase
@en
P2093
B. M. Hogema
H. Senephansiri
K. M. Gibson
O. C. Snead
R. B. Schutgens
T. Bottiglieri
T. G. Burlingame
P2888
P304
P356
10.1038/NG727
P407
P577
2001-10-01T00:00:00Z