Professor of Neurology
Dr. Jun Li is a Professor (tenured) in Department of Neurology, Brain Institute and Center for Human Genetics Research of Vanderbilt University. Dr. Li obtained his medical degree in 1985 from Anhui Medical University, China and his PhD of Neuroscience from Drexel University College of Medicine, USA in 1995. He completed his Neurology residency in Ohio State University in 1999 and EMG/Neuromuscular Disease fellowship in University of Utah in 2000.
In August 2000, Dr. Li joined the faculty at Wayne State University School of Medicine as an Assistant Professor of Neurology. He was promoted to Associate Professor of Neurology in 2005. He was recruited into Department of Neurology at Vanderbilt University as an Associate Professor (tenured) in September 2009, and was promoted to the rank of full professor with tenure in September 2015.
Dr. Li has been the recipient of David Kotlarek Award from the Department of Neurology, Ohio State University for the excellence in patient care in 1999. In 2004, he received a K08 award from NIH. In 2005, he received a Faculty Research Excellence Award from Wayne State University. In 2014, he was honored with the Wolfe Research Prize by American Neurological Association
Dr. Li is an editorial member for Journal of the Peripheral Nervous System and Experimental Neurology. He has been a member in the scientific advisory board for Muscular Dystrophy Association and Charcot-Marie-Tooth Association. He has been invited to give numerous talks at universities and domestic/international meetings. His research is currently funded by NIH, Muscular Dystrophy Association, and Department of Veterans Affairs.
Dr. Li has been interested in Inherited Neuropathies (also called Charcot-Marie-Tooth disease or CMT) and Myelin Biology. Disabilities in many neurological diseases, including inherited neuropathies and motor neuron diseases, are usually caused by one of the two pathophysiological processes: conduction block and/or axonal degeneration. My laboratory investigates the molecular mechanisms of the two processes at different levels of biological system, including primary culture neurons/Schwann cells, genetically manipulated rodent models, and human subjects with inherited neuropathies. This approach allows us not only to understand the diseases better, but also provides opportunity to observe the basic functions of specific genes and their coded proteins in vitro, animals and humans.
We evaluate our patients in the CMT clinic that is directed by Dr. Li. Genotypic and phenotypic manifestations of patients are carefully characterized. The characterization is often assisted by non-invasive techniques, such as conventional nerve conduction study, needle EMG, motor unit number estimation (MUNE), skin biopsies, nerve MRI and neuropathy disability scores, etc. Data derived from these evaluations raise important scientific questions, which are further explored in vitro and in the related animal models. These are usually achieved by using knockout or transgenic rodents, primary neuronal culture, neuron/Schwann cell co-culture, other molecular biology approaches, etc. These translational approaches have proven to be fruitful as shown in the publications listed below.
Original Observations in Refereed Journals:
1. Li J, Krajewski KM, Shy ME, Lewis RA, Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002; 58:1769-73. PMID: 12084875.
2. Li J, Loeb JA, Shy ME, Shah AK, Tselis AC, Kupsky WJ, Lewis RA. Asymmetric Flaccid Paralysis: A Neuromuscular Presentation of West Nile Virus Infection. Ann Neurol 2003; 53 (6): 703-710. PMID: 12783415.
3. Li J, Krajewski K, Lewis RA, Shy ME. The loss-of-function phenotype of hereditary neuropathy with liability to pressure palsies. Muscle & Nerve 2004; 29: 205-210. PMID: 14755484.
4. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn A, Li J, Lewis R, and Reilly M. Reliability and validity of the CMT Neuropathy Score as a measure of disability. Neurology 2005; 64(7):1209-14. PMID: 15824348.
5. Li J, Bai YH, Ghandour K, Qin P, Grandis M, Trostinskaia A, Ianakova E, Wu XY, Schenone A, Vallat JM, Kupsky WJ, Hatfield J, Shy ME. Skin biopsies in myelin related neuropathies; bringing molecular pathology to the bedside. Brain, 2005;128 (Pt 5):1168-77. PMID: 15774502.
6. Li J, Bai YH, Ianokova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME. Major Myelin Protein Gene (P0) Mutation Causes a Novel Form of Axonal Degeneration. J Comp Neurol; 2006; 498(2):252-265. PMID: 16856127.
7. Bai YH, Ianakova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, and Li J. Effect of an R69C mutation in myelin protein zero gene on myelination and ion Channel Subtypes. Arch Neurol 2006; 63: 1787 – 1794. PMID: 17172621.
8. Li J, Ghandour K, Radovanovic D, Shy RR, Krajewski KM, Shy ME,Nicholson GA. Stoichiometric alteration of PMP22 protein determines the phenotype of HNPP. Arch Neurol 2007; 64 (7): 974-978. PMID: 17620487.
9. Chow CY, Zhang YL, Dowling J, Jin N, Adamska M, Shiga K, Szigeta K, Shy ME, Li J, Zhang XB, Lupski JR, Weisman L, Meisler MH. Mutation of FIG4 encoding a PI(3,5)P2 phosphatase causes neurodegeneration in the pale tremor mouse and in patients with CMT type 4J. Nature; 2007; 448 (7149): 68-72. PMID: 17572665.
10. Zhang XB, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J. Mutation of FIG4 Causes a Rapidly Progressive, Asymmetric Neuronal Degeneration. Brain, 2008; 131(Pt 8):1990-2001. PMID: 18556664.
11. Katona I, Wu XY, Feely SME, Sottile S, Siskind C, Miller LJ, Shy ME, and Li J. PMP22 Expression in Dermal Nerve Myelin from Patients with CMT1A. Brain 2009; 132(Pt 7):1734-40. PMID: 19447823; PMCID: PMC2724915.
12. Saporta MA, Katona I, Lewis RA, Masse S, Shy ME, and Li J. Shortened Internodal Length of Dermal Myelinated Nerve Fibers in CMT1A. Brain 2009; 132: 3263-73. PMID: 19923170. PMCID: PMC2800385
13. Bai Y, Zhang XB, Katona I, Saporta MA, Shy ME, O’Malley HA, Isom LL, Suter U, Li J. Conduction Block in PMP22 Deficiency. Journal of Neuroscience 2010; 30: 600-608. PMID: 2001523; PMCID: PMC3676309.
14. Katona I, Zhang XB, Bai YH, Shy ME, Yan Y, Hatfield J, Kupsky WJ, Jun Li. Distinct Pathogenic Processes between Fig4 Deficient Motor and Sensory Neurons. European Journal of Neuroscience 2011; 33: 1401-1410. PMID: 21410794; PMCID: none, not funded by NIH.
15. Saporta MA, Katona I, Zhang XB, Roper HP, Carr L, Macdonald F, Louise Brueton L, Blake J, Suter U, Reilly MM, Shy ME, Li J. Neuropathy in Human and Mice with PMP22 null. Archives of Neurology, 2011; 68: 814-821. PMID: 21670407; PMCID: PMC3711535.
16. Guo J, Ma YH, Qing Yan Q, Wang L, Zeng YS, Wu JL, Li J. Fig4 Expression in the Nervous System and Its Protection against Abnormal Lysosomal Accumulation. Journal of Neuropathology & Experimental Neurology; 2012; 71: 28-39. PMID: 22157617; PMCID: none, not funded by NIH
17. Guo JS, Wang LM, Zhang Y, Wu JW, Arpag S, Hu B, Imhof BA, Tian XX, Carter BD, Suter U, Li J. Abnormal Myelin Junctions and Permeability in PMP22 Deficient Nerves; Annals of Neurology 2014; 75 (2): 255-65. PMID: 24339129; PMCID: PMC4206215.
18. Liu PF, Gelowani V, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Urtreger AO, and Lupski JR. Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie- Tooth Type 1A Triplication. American Journal of Human Genetics; 2014, 94 (3): 462-9. PMID: 24530202; PMCID: PMC3951935.
19. Dortch RD, Dethrage LM, Gore JC, Smith SA, and Li J; Proximal Nerve Magnetization Transfer MRI Relates to Disability in Charcot-Marie- Tooth Diseases. Neurology 2014; 83: 1545-53. PMID: 25253751; PMCID: PMC4222857.
20. Zou JL, Hu B, Arpag S, Hamilton A, Zeng YS, Vanoye C, and Li J. Reactivation of Lysosomal Ca2+ Efflux Rescues Abnormal Lysosomal Storage in FIG4 Deficient Cells. Journal of Neuroscience 2015; 35: 6801-6812. PMID: 25126456; PMCID: PMC4412898.
21. Schlebach J, Narayan M, Alford C, Mittendorf KF, Carter B, Li J, Sanders CR. Conformational Stability Limits the Cellular Trafficking of Pathogenic Variants of the Integral Membrane Protein PMP22. Journal of the American Chemical Society. 2015; Epub ahead of print; PMID: 26102530.
Invited Reviews (selected):
1. Li J. Hypothesis of double-polarization (an invited review). J Neurol Sci; 2008; 275: 33-36.
2. Myers E, Peltire A and Li J. Evaluating dermal myelinated nerve fibers in skin biopsy. Muscle & Nerve; 2013; 47:1-11. PMID: 23192899; PMCID: PMC3528842.
3. Li, J. Inherited Neuropathies. Seminars in Neurology; 2012; 32: 204-14. PMID: 23117945; PMCID: PMC3667957.
4. Li J, Parker B,Martyn C, Natarajan C and Guo JS. The PMP22 Gene and Its Related Diseases. Molecular Neurobiology; 2013; 47:673-98. PMID: 23224996; PMCID: PMC3594637
5. Martyn C and Li J. Fig4 Deficiency: A Newly Emerged Lysosomal Storage Disorder?; Progress in Neurobiology; 2013; 101-102:35-45. PMID: 23165282; PMCID: PMC3566336.
6. Li, J. Molecular regulators of nerve conduction – lessons from inherited neuropathies and rodent genetic models. 2015; Epub ahead of print; PMID: 25792482;
Books and Chapters (selected):
1. Li J, Lewis RA, Shy EM. “Charcot-Marie-Tooth Disease” P676-p686; 2003. Editors: Aminoff M and Daroff RB. ENCYCLOPEDIA OF NEUROLOGICAL SCIENCE. Elsevier Science, Burlington, MA.
2. Li J, “Inherited Neuropathies”; 2012. Editors: Peter Donofrio. Textbook of Peripheral Nerve Diseases. Demosmedical, New York City, NY.