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Publications by K. Michael Gibson

Mutations in the Human SC4MOL Gene Encoding a Methyl Sterol Oxidase Cause Psoriasiform Dermatitis, Microcephaly, and Developmental Delay

Journal of Clinical Investigation
Medicine
2011English

Placental Stem Cell Correction of Murine Intermediate Maple Syrup Urine Disease

Hepatology
MedicineHepatology
2013English

Plasticity of Postsynaptic, but Not Presynaptic, GABAB Receptors inSSADH Deficient Mice

Experimental Neurology
Developmental NeuroscienceNeurology
2010English

Familial 6p22.2 Duplication Associates With Mild Developmental Delay and Increased SSADH Activity

American Journal of Medical Genetics, Part B, Neuropsychiatric Genetics
PsychiatryMolecular NeuroscienceMental HealthGeneticsCellular
2011English

mTOR Inhibitors Rescue Premature Lethality and Attenuate Dysregulation of GABAergic/glutamatergic Transcription in Murine Succinate Semialdehyde Dehydrogenase Deficiency (SSADHD), a Disorder of GABA Metabolism

Journal of Inherited Metabolic Disease
Genetics
2016English

Identification of an Active Site Alanine in Mevalonate Kinase Through Characterization of a Novel Mutation in Mevalonate Kinase Deficiency

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
1997English

Catabolism of 4-Hydroxyacids and 4-Hydroxynonenal via 4-Hydroxy-4-Phosphoacyl-CoAs

Journal of Biological Chemistry
BiochemistryCell BiologyMolecular Biology
2009English

A Ketogenic Diet Rescues the Murine Succinic Semialdehyde Dehydrogenase Deficient Phenotype

Experimental Neurology
Developmental NeuroscienceNeurology
2008English

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