Skelton Lab Research  
Changes in cellular metabolism have profound effects on brain function. Our lab, led by Matthew R. Skelton, PhD, focuses on the metabolic effects of two disorders: creatine transporter deficiency and bipolar disorder.

Creatine Transporter Deficiency

Discovered at Cincinnati Children’s by Drs. Ton de Grauw and Kim Cecil, creatine transporter deficiency (CTD) is caused by the loss of the creatine transporter gene. Patients with CTD develop an autistic-like phenotype with intellectual disability, significant reductions in language development, ADHD and epilepsy. Unlike similar disorders in which creatine synthesis is impaired, creatine supplementation does not improve the quality of life for these patients. The primary goal of our research in CTD is to better understand how the loss of creatine disrupts brain function, leading to the development of therapies for this currently untreatable disorder.

Bipolar Disorder

Bipolar disorder (BD) is the sixth leading cause of disability worldwide, affecting approximately 3% of the adult population. Currently, the etiology of BD is unknown. Current treatment protocols include antipsychotics and mood stabilizers, such as lithium. However, these treatments have significant side effects, causing additional health problems as well as reducing compliance. A better understanding of brain function in BD is required in order for more effective treatments to be developed. Recent data indicate that mitochondrial respiration is impaired in patients with BD. Our lab focuses on how these changes in mitochondrial function are related to the BD phenotype. 

Contact Us

A photo of Matthew Skelton.

Matthew R. Skelton, PhD
Assistant Professor, UC Department of Pediatrics

Phone: 513-636-8632


Vorhees, C.V., Graham, D.L., Braun, A.A., Schaefer, T.L., Skelton, M.R., Richtand, N.M.,Williams, M.T. Prenatal immune challenge in rats: Effects of polyinosinic-polycytidylic acid on spatial learning, prepulse inhibition, conditioned fear, and responses to MK-801 and amphetamine. Neurotoxicol Teratol. 2015 Jan-Feb;47:54-65.

Braun, A.A., Amos-Kroohs, R.M., Udobi, K.C., Skelton, M.R., Vorhees, C.V., Williams, M.T. Dopamine depletion in either the dorsomedial or dorsolateral striatum impairs egocentric Cincinnati water maze performance while sparing allocentric Morris water maze learning. Neurobio Learn Mem. 2015 Feb;118:55-63.

Vorhees, C.V., Graham, D. L., Amos-Kroohs, R.M., Braun, A.A., Grace, C. E., Schaefer, T. L., Skelton, M. R., Erikson, K.M., Aschner, M., Williams, M. T.Effects of developmental manganese, stress, and the combination of both on monoamines, growth, and corticosterone. Toxicology Reports. 2014;1:1046-1061.

Williams, M.T., Skelton, M.R., Longacre, I.D., Huggins, K.N., Maple, A.M., Vorhees, C.V., Brown, R.W. Neuronal reorganization in adult rats neonatally exposed to (±)-3,4-methylenedioxymethamphetamine. Toxicology Reports. 2014;1:699-706.

Russell, A.P., Ghobrial, L., Wright, C.R., Lamon, S., Brown, E.L., Kon, M., Skelton, M.R., Snow, R.J. Creatine transporter (SLC6A8) knockout mice display an increased capacity for endogenous creatine biosynthesis in skeletal muscle. Front Physiol. 2014 Aug 26;5:314.

Hautman E.R., Kokegne, A.N., Udobi, K.C., Williams, M.T., Vorhees, C.V., Skelton, M.R. Female mice heterozygous for creatine transporter deficiency show mild cognitive impairment. J Inherit Metab Dis. 2014 Jan;37(1):63-8.

Wong, A.C.Y., Velamoor, S., Skelton, M.R., Thorne, P.R., Vlajkovic, S.M. (2012). Expression and distribution of creatine transporter and creatine kinase (brain isoform) in developing and mature rat cochlea. Histochem and Cell Biol. 2012 May;137(5):599-613.

Skelton, M.R., Schaefer, T.L., Graham, D.L., deGrauw, T.J., Clark J.F., Williams, M.T., Vorhees C.V. Creatine transporter (CrT; Slc6a8) knockout mice as a model of human CrT deficiencyPLoS One. 2011 Jan 13;6(1):e16187.