Gibson, K. Michael

IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., et al. (2010) · Science

Metabolism and Genetic DisordersBiochemical Acid Research Studies

Cited by 195

Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase

Hogema, B. M., Gupta, M., Senephansiri, H., Burlingame, T. G., Taylor, M., Jakobs, C., Schutgens, R. B. H., Froestl, W., Snead, O. C., Diaz-Arrastia, R., et al. (2001) · Nature Genetics

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 157

Defects in GABA metabolism affect selective autophagy pathways and are alleviated by mTOR inhibition

Lakhani, R., Vogel, K. R., Till, A., Liu, J., Burnett, S. F., Gibson, K. M., & Subramani, S. (2014) · EMBO Molecular Medicine

Autophagy in Disease and TherapyGenetics, Aging, and Longevity in Model Organisms

Cited by 75

Seizure evolution and amino acid imbalances in murine succinate semialdehyde dehydrogenase (SSADH) deficiency

Gupta, M., Polinsky, M., Senephansiri, H., Snead, O. C., Jansen, E. E. W., Jakobs, C., & Gibson, K. M. (2004) · Neurobiology of Disease

Epilepsy research and treatmentNeuroscience and Neuropharmacology Research

Cited by 56

Focal neurometabolic alterations in mice deficient for succinate semialdehyde dehydrogenase

Gibson, K. M., Schor, D. S. M., Gupta, M., Guerand, W. S., Senephansiri, H., Burlingame, T. G., Bartels, H., Hogema, B. M., Bottiglieri, T., Froestl, W., et al. (2002) · Journal of Neurochemistry

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 55

Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1−/− mice)

SAUER, S., KOLKER, S., HOFFMANN, G., TENBRINK, H., JAKOBS, C., GIBSON, K., & OKUN, J. (2007) · Neurochemistry International

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 50

Murine succinate semialdehyde dehydrogenase deficiency

Gupta, M., Hogema, B. M., Grompe, M., Bottiglieri, T. G., Concas, A., Biggio, G., Sogliano, C., Rigamonti, A. E., Pearl, P. L., Snead, O. C., et al. (2003) · Annals of Neurology

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 50

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

Jansen, E. E., Struys, E., Jakobs, C., Hager, E., Snead, O. C., & Gibson, K. M. (2008) · BMC Developmental Biology

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 41

Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency

Donarum, E. A., Stephan, D. A., Larkin, K., Murphy, E. J., Gupta, M., Senephansiri, H., Switzer, R. C., Pearl, P. L., Snead, O. C., Jakobs, C., et al. (2006) · Journal of Inherited Metabolic Disease

Epilepsy research and treatmentMetabolism and Genetic Disorders

Cited by 27

Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes

Kirby, T., Walters, D. C., Brown, M., Jansen, E., Salomons, G. S., Turgeon, C., Rinaldo, P., Arning, E., Ashcraft, P., Bottiglieri, T., et al. (2020) · Metabolic Brain Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 24

Postmortem Analyses in a Patient With Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD): II. Histological, Lipid, and Gene Expression Outcomes in Regional Brain Tissue

Walters, D. C., Lawrence, R., Kirby, T., Ahrendsen, J. T., Anderson, M. P., Roullet, J.-B., Murphy, E. J., Gibson, K. M., & the SSADH Deficiency Investigators Consortium (SDIC) (2021) · Journal of Child Neurology

Metabolism and Genetic DisordersEpilepsy research and treatment

Cited by 11

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Peters, T. M. A., Engelke, U. F. H., de Boer, S., Reintjes, J. T. G., Roullet, J., Broekman, S., de Vrieze, E., van Wijk, E., Wamelink, M. M. C., Artuch, R., et al. (2024) · Journal of Inherited Metabolic Disease

Metabolism and Genetic DisordersMetabolomics and Mass Spectrometry Studies

Cited by 7