John Kamholz MD, PhD is currently a Professor of Neurology, a Professor in the Center for Molecular Medicine and Genetics, and a member of the Graduate Group in Genetics and Molecular Biology. He has served on the Fellowship Committee for the National MS Society, the Medical Advisory Committee of the Muscular Dystrophy Association, and is on the Scientific Advisory Committee for the Pelizaeus-Merzbacher Disease Foundation. He has been an associate editor for the Journal of Neuropathology and Experimental Neurology, and has reviewed papers for a number of peer-reviewed journals including the Annals of Neurology, Journal of Neuroscience, Journal of Neurological Science, Neurology, Journal of Neuroscience Research, Journal of Neurochemistry, Molecular and Cellular Neuroscience, and Biophysics Journal. He was previously a member of the Department of Neurology at the University of Pennsylvania where he was a member of the Neuroscience Institute, the Graduate group in Neuroscience and the Graduate Group in Genetics.

Dr. Kamholz research and clinical interests are the regulation and structure of myelin and diseases of the myelin sheath, including multiple sclerosis (MS), a demyelinating disease of the central nervous system, and Charcot-Marie-Tooth disease (CMT), a dysmyelinating disease of the peripheral nervous system. His research include basic studies on the structure and function of the major myelin proteins, myelin protein zero (MPZ) and proteolipid protein (PLP); clinical studies on the phenotype and natural history of patients with inherited diseases of myelin; and clinical trials for the treatment of patient with MS. He is currently funded by the National Institute of Health, the National MS Society, and the Muscular Dystrophy Association.

Selected Publications

Daffu, G, Sohi, J, and Kamholz, J. (2008). The presence of the 35 amino acid PLP-specific domain alters transmembrane helix (TMH) packing and leads to PLP dimerization at cysteine residues within TMH1: implications for the pathogenesis of Pelizaeus-Merzbacher disease. (Submitted).

Grandis, M, Vigo, T., Jain, M., Brucal, M., Passalaqua, M, LaPadula, V., Benvenuto, F., Cadoni, A., Kamholz, J., Shy, M., and Schenone, A. Different cellular and molecular mechanisms for early and late onset myelin protein zero mutations. Human Molecular Genetics 17: 1877-1889, 2008.

Pankonin, M, Sohi, J, Kamholz, J, and Loeb, J. (2008). Differential distribution of neuregulin in human brain andf spinal fluid. (submittted).

Gaboreanu, A. M., Hrstka, R, Xu, W, Shy, M., Kamholz, J., Lilien, J., Balsamo, J. Myelin protein zero/P0 phosphorylation and function require an adaptor protein linking it to RACK1 and PKC alpha. J Cell Biol 177: 707-16, 2007.

Kamholz, J, Brucal, M, Li, Jun, and Shy, M. Myelin Protein Zero and CMT1B: A tale of two phenotype. In: Molecular Neurology; Steven Waxman, ed. Elsevier Press. 2007

Southwood, C, He, C, Garbern, J, Kamholz, J, Arroyo, E, and Gow, A. CNS myelin paranodes require Nkx6-2 homeodomain transcriptional activity for normal structure. J. Neurosci, 24: 11215-25, 2004.

Shy, M.E., Hobson, G., Boespflug-Tanguy, O., Garbern, J., Sperle, K., Jain, M., Li, W., Gow, A., Rodriguez, D., Bertini, E., Mancias, P., Krajewski, K., Lewis, R., and Kamholz, J. Schwann cell expression of PLP1 is necessary to prevent demyelinating peripheral neuropathy. Ann Neurol 53: 354-365, 2003.

Garbern, J.Y., Yool, D.A., Moore, G.J., Wilds, I., Faulk, M., Klugman, M., Nave, K.-A., Bird, T., Kamholz, J.A., and Griffiths, I.R. Proteolipid protein is essential to maintain the integrity of the long motor and sensory spinal pathways. Brain 125: 1-11, 2002.

Xu, W, Shy, M, Kamholz, J, Elferink, L, Xu, G, Lilien, J and Balsamo, J. Mutations in the cytoplasmic domain of peripheral myelin protein P0 (MPZ) abolish adhesive function and reveal a role for protein kinase C-mediated phosphorylation in myelination. J.Cell. Biol. 155: 439-446, 2001.

Awards and Honors

Honorable Mention, S. Weir Mitchell Award, American Academy of Neurology, 1986

Member, Scientific Advisory Committee National MS Society, 1996-2001

Elected Member, American Neurological Association. 1996

Member, Medical Advisory Board, Muscular Dystrophy Association, 2002-2008

Listed in "Best Doctors in America", 1997, 1998; 2001-2008