Publications

(Selected)

 

1. 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.

2. 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.

3. 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.

4. 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.

5. 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.

6. 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.

7. 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.

8. 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

9. 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.

10. 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.

11. 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.

12. 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.

13. 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.

14. 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; 137: 8758-68; PMID: 26102530.

15. Hu B, Arpag S, Zhang XB, Möbius W, Werner H, Sosinsky G, Ellisman M, Zhang Y,  Hamilton A, Chernoff J, Li J.Tuning PAK Activity to Rescue Abnormal Myelin Permeability in HNPP. PLOS Genetics; 2016; 12(9):e1006290. doi: 10.1371/journal.pgen.1006290. PMID: 27583434

16. Hu B, Arpag S, Zuchner S, Li J. A Novel Missense Mutation of CMT2P Alters Transcription Machinery. Annals of Neurology; 2016; 80: 834-845. PMID: 27615052; PMCID: PMC51774558 (with Editorial Commentary).

17. Mittendorf KF, Marinko JT, Hampton CM, Hadziselimovic A, Schlebach JP, Law CL, Li J, Wright ER, Sanders CR, and Ohi MD. Peripheral Myelin Protein 22 Alters Model Membrane Architecture. Science Advances; 2017; 3: el700220; doi: 10.1126/sciadv.1700220. PMID: 28695207.

18. Hu B, Simmons M, Ravi V, Arpag S,  Moiseev D, Castoro R, Mobley BC, Burnett BW, Siskind C, Day JW, Yawn R, Feely S, Li YB, Yan Q,Shy ME, Li J. Myelin Abnormality in CMT4J Recapitulates Features of Acquired Demyelinating Neuropathies; ePub ahead of print; Annals of Neurology; 2018.