Associate Professor (also with Neurology); Ph.D., 1979, M.D.,
1981, Baylor. Molecular and cellular pathogenesis of Pelizaeus-Merzbacher disease and other inherited myelin diseases; metabolism of myelin lipids; magnetic resonance imaging techniques; neurofibromatosis; clinical neurogenetics.
Selected Publications
Garbern JY, Cambi F, Tang XM, Sima AAF, Vallat JM, Bosch EP, et al. Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 1997; 19: 205-218.
Kamholz, J., Menichella, D., Jani, A., Garbern, J., Lewis,
R.A., Krajewski, K.M., Lilien, J., Scherer, S.S. & Shy,
M.E. Charcot-Marie-Tooth
disease type 1: Molecular pathogenesis to gene therapy.
Brain 123, 222-233 (2000).
Krajewski K, Lewis R, Fuerst D, Turansky C, Hinderer S,
Garbern J, Kamholz, J, Shy ME. Neurological dysfunction
and axonal degeneration in CMT 1A, Brain 123, 1516-1527,
(2000).
Jiang, H., Duchala, C. S., Awatramani, R., Shumas, S.,
Carlock, L., Kamholz, J., Garbern, J., Scherer, S. S., Shy, M.
E., and Macklin, W. B.. Proteolipid protein mRNA stability is
regulated by axonal contact in the rodent peripheral nervous
system. J Neurobiol 44, 7-19 (2000).
Ruan, B., Wilson, W. K., Pang, J., Gerst, N., Pinkerton, F.
D., Tsai, J., Kelley, R. I., Whitby, F. G., Milewicz, D. M.,
Garbern, J. and George J. Schroepfer, J. Sterols in blood of
normal and Smith-Lemli-Opitz subjects. J Lipid Res,
42:799-812, 2001.
Garbern J.Y., Yool D.A., Moore G. J. , Wilds I. B. , Faulk
M. W. , Klugmann M.,. Nave K.-A, Sistermans E.A., van der
Knaap M. S., Bird T.D., Shy M. E., Kamholz J.A. and I.R.
Griffiths. Patients lacking the major CNS myelin protein,
Proteolipid protein 1, develop length-dependent axonal
degeneration in the absence of demyelination and inflammation,
Brain, 2002 125:551-561.
Southwood CM, Garbern J, Jiang W, Gow A. The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher Disease. Neuron 2002; 36: 585-96.
Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, et al. Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 2003; 53: 354-65.
Southwood C, He C, Garbern J, Kamholz J, Arroyo E, Gow A. CNS myelin paranodes require Nkx6-2 homeoprotein transcriptional activity for normal structure. J Neurosci 2004; 24: 11215-25.
Edgar JM, McLaughlin M, Yool D, Zhang SC, Fowler JH, Montague P, Barrie J, McCulloch M, Duncan ID, Garbern J, Nave K-A, Griffiths IR. Oligodendroglial modulation of fast axonal transport in a mouse model of hereditary spastic paraplegia. J Cell Biol 2004; 166: 121-31
Edgar JM, Garbern J. The myelinated axon is dependent on the myelinating cell for support and maintenance: molecules involved. J Neurosci Res 2004; 76: 593-8.
Svenson IK, Kloos MT, Gaskell PC, Nance MA, Garbern JY, Hisanaga SI, et al. Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations. Neurogenetics 2004.
Madhavarao CN, Arun P, Moffett JR, Szucs S, Surendran S, Matalon R, Garbern J, Hristova D, Johnson A, Jiang W, Namboodiri M. A., Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease. Proc Natl Acad Sci U S A 2005; 102: 5221-6.
Search Pubmed:
|
