K Michael Gibson Selected Research

succinic semialdehyde dehydrogenase deficiency

12/2023	Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
7/2023	Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective.
7/2023	Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.
1/2023	Reduced evoked cortical beta and gamma activity and neuronal synchronization in succinic semialdehyde dehydrogenase deficiency, a disorder of γ-aminobutyric acid metabolism.
1/2023	The presence and severity of epilepsy coincide with reduced γ-aminobutyrate and cortical excitatory markers in succinic semialdehyde dehydrogenase deficiency.
1/2022	Intestinal Dysbiosis as a component of pathophysiology in succinic semialdehyde dehydrogenase deficiency (SSADHD).
11/2021	Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue.
11/2021	Development of a Quality-of-Life Survey for Patients With Succinic Semialdehyde Dehydrogenase Deficiency, a Rare Disorder of GABA Metabolism.
11/2021	A Randomized Controlled Trial of SGS-742, a γ-aminobutyric acid B (GABA-B) Receptor Antagonist, for Succinic Semialdehyde Dehydrogenase Deficiency.
11/2020	Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.

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K Michael Gibson Research Topics

Disease

59	succinic semialdehyde dehydrogenase deficiency 12/2023 - 07/2002
15	Seizures (Absence Seizure) 01/2023 - 01/2003
10	Epilepsy (Aura) 12/2023 - 12/2005
7	Maple Syrup Urine Disease 01/2021 - 07/2009
6	Ataxia (Dyssynergia) 01/2019 - 12/2005
5	Gamma aminobutyric acid transaminase deficiency 05/2017 - 03/2004
5	Body Weight (Weight, Body) 12/2016 - 07/2009
4	Intellectual Disability (Idiocy) 01/2023 - 09/2004
4	Phenylketonurias (Phenylketonuria) 01/2021 - 01/2013
4	Status Epilepticus (Complex Partial Status Epilepticus) 11/2016 - 01/2006
3	Smith-Lemli-Opitz Syndrome 01/2021 - 09/2004
3	2-Hydroxyglutaricaciduria 01/2019 - 03/2010
3	Mevalonate Kinase Deficiency 03/2013 - 02/2003
3	Narcolepsy 03/2006 - 01/2004
2	Gliosis 11/2021 - 11/2020
2	Toxic Optic Neuropathy 10/2020 - 01/2017
2	Muscle Hypotonia (Hypotonia) 01/2019 - 04/2010
2	Edema (Dropsy) 01/2016 - 06/2011
2	Ischemia 01/2016 - 09/2010
2	Thrombosis (Thrombus) 01/2016 - 05/2011
2	Metabolic Diseases (Metabolic Disease) 03/2014 - 03/2013
2	Liver Diseases (Liver Disease) 03/2014 - 06/2013
2	2-Methylbutyryl-CoA Dehydrogenase Deficiency 01/2012 - 02/2006
2	Reperfusion Injury 06/2011 - 05/2011
2	Alcoholism (Alcohol Abuse) 03/2006 - 01/2004
2	Homocarnosinosis 01/2006 - 04/2004
2	Pyridoxine-dependent epilepsy 04/2004 - 03/2004
1	Movement Disorders (Movement Disorder) 01/2023
1	Broca Aphasia (Expressive Aphasia) 01/2023
1	Dysbiosis 01/2022
1	Disease Progression 01/2022
1	Multiple Sclerosis 01/2022
1	Demyelinating Diseases (Demyelinating Disease) 01/2022
1	Experimental Autoimmune Encephalomyelitis (Encephalomyelitis, Autoimmune Experimental) 01/2022
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2021
1	Rett Syndrome (Rett's Disorder) 01/2019
1	Neoplasms (Cancer) 11/2018
1	Cardiotoxicity 11/2018
1	Inflammation (Inflammations) 01/2017
1	Nervous System Diseases (Neurological Disorders) 12/2016
1	Inborn Genetic Diseases (Disease, Hereditary) 10/2015

Drug/Important Bio-Agent (IBA)

45	gamma-Aminobutyric Acid (GABA)IBA 07/2023 - 08/2002
33	Succinate-Semialdehyde Dehydrogenase (Succinic Semialdehyde Dehydrogenase)IBA 11/2020 - 07/2002
12	Aminobutyrates (Aminobutyric Acid)IBA 12/2023 - 12/2010
11	EnzymesIBA 12/2023 - 01/2003
9	AcidsIBA 01/2023 - 01/2003
7	4-hydroxybutyric acidIBA 12/2019 - 08/2002
7	Neurotransmitter Agents (Neurotransmitter)IBA 09/2014 - 01/2003
5	Amino Acids FDA Link 05/2020 - 01/2013
4	Proteins (Proteins, Gene)FDA Link 12/2023 - 01/2013
4	CholesterolIBA 01/2021 - 02/2003
4	Biomarkers (Surrogate Marker)IBA 01/2020 - 07/2015
3	Fatty Acids (Saturated Fatty Acids)IBA 01/2021 - 01/2010
3	Glutamine (L-Glutamine)FDA Link 11/2020 - 10/2003
3	Aldehyde DehydrogenaseIBA 01/2020 - 11/2016
3	Sodium Oxybate (gamma Hydroxybutyrate)FDA Link 09/2019 - 01/2003
3	Vigabatrin FDA Link 01/2017 - 07/2002
3	Taurine FDA Link 01/2016 - 07/2002
3	Branched-Chain Amino AcidsIBA 05/2014 - 07/2009
2	(3-aminopropyl)(n-butyl)phosphinic acidIBA 11/2021 - 05/2005
2	Carnitine (L-Carnitine)FDA LinkGeneric 01/2021 - 12/2010
2	CreatineIBA 01/2021 - 05/2020
2	Glutamic Acid (Glutamate)FDA Link 12/2019 - 10/2003
2	Oxidoreductases (Dehydrogenase)IBA 01/2019 - 07/2009
2	Butyric Acid (Butanoic Acid)IBA 01/2019 - 11/2014
2	alpha-hydroxyglutarateIBA 01/2019 - 03/2010
2	Reactive Oxygen Species (Oxygen Radicals)IBA 11/2018 - 01/2017
2	Sirolimus (Rapamycin)FDA Link 01/2017 - 11/2016
2	NCS 382IBA 12/2016 - 07/2002
2	Free RadicalsIBA 01/2016 - 05/2011
2	Glycine (Aminoacetic Acid)FDA LinkGeneric 10/2015 - 12/2005
2	Dopamine (Intropin)FDA LinkGeneric 09/2014 - 10/2003
2	Carbolines (Beta-Carbolines)IBA 06/2011 - 05/2011
1	Corn Oil (Oil, Corn)IBA 01/2022
1	Ribosomal DNA (rDNA)IBA 01/2022
1	FarnesolIBA 01/2022
1	GABA-B Receptor AntagonistsIBA 11/2021
1	LipidsIBA 11/2021
1	glycocyamineIBA 01/2021
1	acylcarnitineIBA 01/2021
1	MethyltransferasesIBA 01/2021
1	Retinaldehyde (Retinal)IBA 10/2020
1	Volatile Fatty AcidsIBA 12/2019
1	Fluorouracil (Carac)FDA LinkGeneric 11/2018
1	Indole AlkaloidsIBA 11/2018
1	Ion Channels (Ion Channel)IBA 01/2017
1	Superoxides (Superoxide)IBA 01/2017
1	Dietary ProteinsIBA 01/2017
1	MTOR InhibitorsIBA 01/2017
1	Adenosine Triphosphate (ATP)IBA 01/2017
1	Oxidants (Oxidizing Agents)IBA 11/2016
1	CurcuminIBA 01/2016
1	NeopterinIBA 10/2015

Therapy/Procedure

6	Therapeutics 11/2021 - 01/2013
5	Transplantation 03/2014 - 07/2009
2	Ketogenic Diet 08/2008 - 04/2008
1	Diet Therapy (Therapy, Diet) 01/2021
1	Drug Therapy (Chemotherapy) 11/2018
1	Intraperitoneal Injections 12/2016
1	Transcranial Magnetic Stimulation 01/2016