Literature DB >> 16406647

Succinate semialdehyde dehydrogenase deficiency does not down-regulate gamma-hydroxybutyric acid binding sites in the mouse brain.

Ashok K Mehta1, Georgianna G Gould, Maneesh Gupta, Lawrence P Carter, K Michael Gibson, Maharaj K Ticku.   

Abstract

We investigated whether succinate semialdehyde dehydrogenase deficiency alters gamma-hydroxybutyric acid (GHB) receptor characteristics due to elevation of GHB levels in the mouse brain. The membrane homogenate binding and quantitative autoradiography using [3H]NCS-382 revealed no significant changes in the affinity (Kd), receptor density (Bmax), or displacement potency (IC50) in various brain regions of Aldh5a1-/- vs. Aldh5a1+/+ mice.

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Year:  2006        PMID: 16406647     DOI: 10.1016/j.ymgme.2005.11.012

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN: 1096-7192            Impact factor:   4.797


  11 in total

Review 1.  Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance.

Authors:  Kyung-Jin Kim; Phillip L Pearl; Kimmo Jensen; O Carter Snead; Patrizia Malaspina; Cornelis Jakobs; K Michael Gibson
Journal:  Antioxid Redox Signal       Date:  2011-04-10       Impact factor: 8.401

Review 2.  Thirty years beyond discovery--clinical trials in succinic semialdehyde dehydrogenase deficiency, a disorder of GABA metabolism.

Authors:  Kara R Vogel; Phillip L Pearl; William H Theodore; Robert C McCarter; Cornelis Jakobs; K Michael Gibson
Journal:  J Inherit Metab Dis       Date:  2012-06-28       Impact factor: 4.982

3.  Decreased GABA-A binding on FMZ-PET in succinic semialdehyde dehydrogenase deficiency.

Authors:  P L Pearl; K M Gibson; Z Quezado; I Dustin; J Taylor; S Trzcinski; J Schreiber; K Forester; P Reeves-Tyer; C Liew; S Shamim; P Herscovitch; R Carson; J Butman; C Jakobs; W Theodore
Journal:  Neurology       Date:  2009-08-11       Impact factor: 9.910

Review 4.  Inherited disorders of gamma-aminobutyric acid metabolism and advances in ALDH5A1 mutation identification.

Authors:  Phillip L Pearl; Mahsa Parviz; Kara Vogel; John Schreiber; William H Theodore; K Michael Gibson
Journal:  Dev Med Child Neurol       Date:  2014-12-29       Impact factor: 5.449

5.  Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies.

Authors:  Mahsa Parviz; Kara Vogel; K Michael Gibson; Phillip L Pearl
Journal:  J Pediatr Epilepsy       Date:  2014-11-25

6.  'Succinic semialdehyde dehydrogenase deficiency: phenotype evolution in an adolescent patient at 20-year follow-up'.

Authors:  Susan R Crutchfield; Richard H Haas; William L Nyhan; K Michael Gibson
Journal:  Dev Med Child Neurol       Date:  2008-09-20       Impact factor: 5.449

7.  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.

Authors:  I Knerr; P L Pearl; T Bottiglieri; O Carter Snead; C Jakobs; K M Gibson
Journal:  J Inherit Metab Dis       Date:  2007-04-24       Impact factor: 4.982

8.  Neuropsychiatric morbidity in adolescent and adult succinic semialdehyde dehydrogenase deficiency patients.

Authors:  Ina Knerr; K Michael Gibson; Cornelis Jakobs; Phillip L Pearl
Journal:  CNS Spectr       Date:  2008-07       Impact factor: 3.790

Review 9.  Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.

Authors:  Patrizia Malaspina; Matthew J Picklo; C Jakobs; O Carter Snead; K Michael Gibson
Journal:  Hum Genomics       Date:  2009-01       Impact factor: 4.639

10.  Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development.

Authors:  Erwin E W Jansen; Eduard Struys; Cornelis Jakobs; Elizabeth Hager; O Carter Snead; K Michael Gibson
Journal:  BMC Dev Biol       Date:  2008-11-28       Impact factor: 1.978

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