Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency
about
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-hydroxybutyricLipid 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 significanceNeurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during developmentEffects of 1,4-butanediol administration on oxidative stress in rat brain: study of the neurotoxicity of gamma-hydroxybutyric acid in vivo.Screening for primary creatine deficiencies in French patients with unexplained neurological symptomsMetabolomic Profiling of Post-Mortem Brain Reveals Changes in Amino Acid and Glucose Metabolism in Mental Illness Compared with ControlsComparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiencyDecreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.Behavioral metabolomics analysis identifies novel neurochemical signatures in methamphetamine sensitizationSuccinic semialdehyde dehydrogenase deficiency (SSADHD): Pathophysiological complexity and multifactorial trait associations in a rare monogenic disorder of GABA metabolismQuantification of creatine and guanidinoacetate using GC-MS and LC-MS/MS for the detection of cerebral creatine deficiency syndromes.mTOR inhibitors rescue premature lethality and attenuate dysregulation of GABAergic/glutamatergic transcription in murine succinate semialdehyde dehydrogenase deficiency (SSADHD), a disorder of GABA metabolism.Evidence for oxidative stress in tissues derived from succinate semialdehyde dehydrogenase-deficient mice.
P2860
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P2860
Increased guanidino species in murine and human succinate semialdehyde dehydrogenase (SSADH) deficiency
description
2006 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2006
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im April 2006 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2006/04/01)
@sk
vědecký článek publikovaný v roce 2006
@cs
wetenschappelijk artikel (gepubliceerd op 2006/04/01)
@nl
наукова стаття, опублікована у квітні 2006
@uk
مقالة علمية (نشرت في أبريل 2006)
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name
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@ast
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@en
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
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type
label
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@ast
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@en
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@nl
prefLabel
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@ast
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@en
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@nl
P2093
P1476
Increased guanidino species in ...... hydrogenase (SSADH) deficiency
@en
P2093
Andreas Schulze
Cornelis Jakobs
Erwin E. W. Jansen
Henry Senephansiri
K. Michael Gibson
Maneesh Gupta
Nanda M. Verhoeven
O. Carter Snead
P304
P356
10.1016/J.BBADIS.2006.01.006
P407
P577
2006-04-01T00:00:00Z