Ghrelin antagonizes MPTP-induced neurotoxicity to the dopaminergic neurons in mouse substantia nigra H Jiang, LJ Li, J Wang, JX Xie Experimental neurology 212 (2), 532-537, 2008 | 164 | 2008 |
The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice Z Luan, L Li, K Higaki, E Nanba, Y Suzuki, K Ohno Brain and Development 35 (4), 317-322, 2013 | 100 | 2013 |
Tuning glycosidase inhibition through aglycone interactions: pharmacological chaperones for Fabry disease and GM 1 gangliosidosis M Aguilar-Moncayo, T Takai, K Higaki, T Mena-Barragán, Y Hirano, ... Chemical communications 48 (52), 6514-6516, 2012 | 70 | 2012 |
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration L Li, N Khan, T Hurd, AK Ghosh, C Cheng, R Molday, JR Heckenlively, ... Investigative ophthalmology & visual science 54 (7), 4503-4511, 2013 | 63 | 2013 |
A Fluorescent sp2‐Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies Z Luan, K Higaki, M Aguilar‐Moncayo, L Li, H Ninomiya, E Nanba, ... ChemBioChem 11 (17), 2453-2464, 2010 | 62 | 2010 |
Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis W Zhang, L Li, Q Su, G Gao, H Khanna Human gene therapy 29 (1), 42-50, 2018 | 59 | 2018 |
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy S Mookherjee, S Hiriyanna, K Kaneshiro, L Li, Y Li, W Li, H Qian, T Li, ... Human Molecular Genetics 24 (22), 6446-6458, 2015 | 59 | 2015 |
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β‐galactosidase deficiency K Higaki, L Li, U Bahrudin, S Okuzawa, A Takamuram, K Yamamoto, ... Human mutation 32 (7), 843-852, 2011 | 59 | 2011 |
Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E KN Rao, W Zhang, L Li, M Anand, H Khanna Human molecular genetics 25 (20), 4533-4545, 2016 | 38 | 2016 |
Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR KN Rao, W Zhang, L Li, C Ronquillo, W Baehr, H Khanna Human Molecular Genetics 25 (10), 2005-2012, 2016 | 36 | 2016 |
Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition KN Rao, L Li, M Anand, H Khanna Scientific reports 5 (1), 11137, 2015 | 33 | 2015 |
Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina KN Rao, L Li, W Zhang, RS Brush, RVS Rajala, H Khanna Human Molecular Genetics 25 (7), 1345-1356, 2016 | 21 | 2016 |
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP) L Moreno-Leon, EL West, M O’Hara-Wright, L Li, R Nair, J He, M Anand, ... Human molecular genetics 29 (22), 3706-3716, 2020 | 18 | 2020 |
Loss of retinitis pigmentosa 2 (RP 2) protein affects cone photoreceptor sensory cilium elongation in mice L Li, KN Rao, Y Zheng‐Le, TW Hurd, C Lillo, H Khanna Cytoskeleton 72 (9), 447-454, 2015 | 18 | 2015 |
The pharmacological chaperone effect of N-octyl-β-valienamine on human mutant acid β-glucosidases Z Luan, L Li, H Ninomiya, K Ohno, S Ogawa, T Kubo, M Iida, Y Suzuki Blood Cells, Molecules, and Diseases 44 (1), 48-54, 2010 | 17 | 2010 |
Cilia in photoreceptors L Li, M Anand, KN Rao, H Khanna Methods in cell biology 127, 75-92, 2015 | 15 | 2015 |
Chemical chaperone therapy: Luciferase assay for screening of β-galactosidase mutations L Li, K Higaki, H Ninomiya, Z Luan, M Iida, S Ogawa, Y Suzuki, K Ohno, ... Molecular genetics and metabolism 101 (4), 364-369, 2010 | 8 | 2010 |
Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition. Sci Rep. 2015; 5: 11137 KN Rao, L Li, M Anand, H Khanna Epub 2015/06/13. doi: 10.1038/srep11137 PMID: 26068394, 0 | 5 | |
Photoreceptor sensory cilium and associated disorders L Li, O Yildiz, M Anand, H Khanna Ocular Diseases, 2012 | 4 | 2012 |
A low dose AAV vector administration preserves cone function in an RP2 knockout mouse model for retinitis pigmentosa S Mookherjee, P Colosi, S Hiriyanna, K Kaneshiro, L Li, H Qian, T Li, ... Investigative Ophthalmology & Visual Science 55 (13), 3310-3310, 2014 | 3 | 2014 |