- J-A Lim, H. Yi, F. Gao, N. Raben, P.S. Kishnani, and B. Sun. Intravenous injection of an AAV-PHP.B vector encoding human acid α-glucosidase rescues both muscle and CNS defects in murine Pompe disease. Mol Ther Methods Clin Dev. 12:233-245, 2019.
- A Korlimarla, J-A Lim, P.S. Kishnani, and B Sun. An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. Annals of Translational Medicine (ATM). (In press, 2019).
- A Korlimarla, S Austin, B Sun, Kishnani PS. Hepatic Manifestations in Glycogen Storage Disease Type III. Current Pathobiology Reports. 6(4):233-240, 2018.
- J-A Lim, B. Sun, R. Puertollano, and N. Raben. Therapeutic benefit of autophagy modulation in Pompe disease. Molecular Therapy. 26(7):1783-1796, 2018.
- H. Yi, Q. Zhang, C. Yang, P.S. Kishnani, and B. Sun. Systemic correction of murine glycogen storage disease type IV by an AAV-mediated gene therapy. Hum Gene Ther. 28 (3): 286-294, 2017.
- H. Yi, T. Sun, D. Armstrong, S. Borneman, C. Young, S. Austin, P.S. Kishnani, and B. Sun. Antibody-mediated enzyme replacement therapy targeting both lysosomal and cytoplasmic glycogen in Pompe disease. J Mol Med (Berl), 95: 513-521, 2017.
- H. Lim, H. Yi, T.K. Kishimoto, F Gao, B. Sun, and P.S. Kishnani. A pilot study on using rapamycin-carrying synthetic vaccine particles (SVP) in conjunction with enzyme replacement therapy to induce immune tolerance in Pompe disease. Mol Genet Metab Reports. 13:18-22, 2017.
- E.D. Brooks, H. Yi, B. Sun, J-A Lim, C. Halaby, L.K. Clinton, A.M. Mavis, S. Austin, D.S. Bangari, J.C. Fyfe, B.L. Thurberg, and P.S. Kishnani. Comparative Liver Pathology in Glycogen Storage Disease Type III (in preparation).
- Carine A. Halaby, Sarah P. Young, Jariya Upadia, Ela Stefanescu, Stephanie Austin, Deeksha Bali, Lani K. Clinton, Brian Smith, Alisha M. Mavis, Priya S. Kishnani. Liver Disease Progression during Childhood in Glycogen Storage Disease Type III: the Need for Systematic Monitoring (addressing reviewer comments).
- Kazi ZB, Desai AK, Troxler RB, Kronn D, Packman S, Sabbadini M, Rizzo WB, Scherer K, Abdul-Rahman O, Tanpaiboon P, Nampoothiri S, Gupta N, Feigenbaum A, Niyazov DM, Sherry L, Segel R, McVie-Wylie A, Sung C, Joseph AM, Richards S, Kishnani PS. An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease. Genet Med. 2018 Sep 14. doi: 10.1038/s41436-018-0270-7. [Epub ahead of print]
- McIntosh PT, Hobson-Webb LD, Kazi ZB, Prater SN, Banugaria SG, Austin S, Wang R, Enterline DS, Frush DP, Kishnani PS. Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy. Mol Genet Metab. 2018 Feb;123(2):85-91. doi: 10.1016/j.ymgme.2017.10.005. Epub 2017 Oct 13.
- Kazi ZB, Desai AK, Berrier KL, Troxler RB, Wang RY, Abdul-Rahman OA, Tanpaiboon P, Mendelsohn NJ, Herskovitz E, Kronn D, Inbar-Feigenberg M, Ward-Melver C, Polan M, Gupta P, Rosenberg AS, Kishnani PS. Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. JCI Insight. 2017 Aug 17;2(16). pii: 94328. doi: 10.1172/jci.insight.94328. [Epub ahead of print]
- Waskowicz LR, Zhou J, Landau DJ, Brooks ED, Lim A, Yavarow ZA, Kudo T, ZhangH, Wu Y, Grant S, Young SP, Huat BB, Yen PM, Koeberl DD. Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia. Hum Mol Genet. 2018 Sep 25. doi: 10.1093/hmg/ddy343. [Epub ahead of print]PubMed PMID: 30256948.
- Brooks ED, Kishnani PS, Koeberl DD. Letter to the Editors: Concerning "Long-term safety and efficacy of AAV gene therapy in the canine model of glycogen storage disease type Ia" by Lee et al. J Inherit Metab Dis. 2018 Sep 25.doi: 10.1007/s10545-018-0248-2. [Epub ahead of print] PubMed PMID: 30255460.
- Brooks ED, Landau DJ, Everitt JI, Brown TT, Grady KM, Waskowicz L, Bass CR,D'Angelo J, Asfaw YG, Williams K, Kishnani PS, Koeberl DD. Long-termc omplications of glycogen storage disease type Ia in the canine model treated with gene replacement therapy. J Inherit Metab Dis. 2018 Jul 24. doi:10.1007/s10545-018-0223-y. [Epub ahead of print] PubMed PMID: 30043186.
- Koeberl DD, Case LE, Smith EC, Walters C, Han SO, Li Y, Chen W, Hornik CP,Huffman KM, Kraus WE, Thurberg BL, Corcoran DL, Bali D, Bursac N, Kishnani PS. Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease. Mol Ther. 2018 Sep5;26(9):2304-2314. doi: 10.1016/j.ymthe.2018.06.023. Epub 2018 Jul 5. PubMedPMID: 30025991; PubMed Central PMCID: PMC6127508.
- Bond JE, Kishnani PS, Koeberl DD. Immunomodulatory, liver depot gene therapy for Pompe disease. Cell Immunol. 2017 Dec 29. pii: S0008-8749(17)30238-1. doi:10.1016/j.cellimm.2017.12.011. [Epub ahead of print] PubMed PMID: 29295737;PubMed Central PMCID: PMC6026080.
- Farah BL, Landau DJ, Wu Y, Sinha RA, Loh A, Bay BH, Koeberl DD, Yen PM. Renal endoplasmic reticulum stress is coupled to impaired autophagy in a mouse model of GSD Ia. Mol Genet Metab. 2017 Nov;122(3):95-98. doi: 10.1016/j.ymgme.2017.08.013.Epub 2017 Sep 1. PubMed PMID: 28888852; PubMed Central PMCID: PMC5722666.
