Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation

Baek, 2010, AAV-mediated gene delivery in adult GM1-gangliosidosis mice corrects lysosomal storage in CNS and improves survival, PLoS One, 5, 16, 10.1371/journal.pone.0013468 Ben Younes, 2011, A fluorescence-microscopic and cytofluorometric system for monitoring the turnover of the autophagic substrate p62/SQSTM1, Autophagy, 7, 883, 10.4161/auto.7.8.15538 Bonten, 2014, Lysosomal multienzyme complex: pros and cons of working together, Cell. Mol. Life Sci., 71, 2017, 10.1007/s00018-013-1538-3 Brunetti-Pierri, 2008, GM(1) gangliosidosis: review of clinical, molecular, and therapeutic aspects, Mol. Genet. Metab., 94, 391, 10.1016/j.ymgme.2008.04.012 Elliot-Smith, 2008, Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis, Mol. Genet. Metab., 94, 204, 10.1016/j.ymgme.2008.02.005 Hahn, 1997, Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid β-galactosidase, Hum. Mol. Genet., 6, 205, 10.1093/hmg/6.2.205 Hicks, 1997, Synapsin I and syntaxin 1B: key elements in the control of neurotransmitter release are regulated by neuronal activation and long-term potentiation in vivo, Neuroscience, 79, 329, 10.1016/S0306-4522(96)00700-2 Hilfiker, 1999, Synapsins as regulators of neurotransmitter release, Philos. Trans. R. Soc. Lond. Ser. B Biol. Sci., 354, 269, 10.1098/rstb.1999.0378 Iwamasa, 1987, Demonstration of GM1-ganglioside in nervous-system in generalized GM1-gangliosidosis using cholera TOXIN-B subunit, Acta Neuropathol., 73, 357, 10.1007/BF00688259 Kabeya, 2000, LC3, a mammalian homologue of yeast Apg8p, is localized in autophagosome membranes after processing, EMBO J., 19, 5720, 10.1093/emboj/19.21.5720 Kaizuka, 2016, An autophagic flux probe that releases an internal control, Mol. Cell, 64, 835, 10.1016/j.molcel.2016.09.037 Komatsu, 2007, Homeostatic levels of p62 control cytoplasmic inclusion body formation in autophagy-deficient mice, Cell, 131, 1149, 10.1016/j.cell.2007.10.035 Latour, 2019, Human GLB1 knockout cerebral organoids: a model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis, Mol. Genet. Metab. Rep., 21, 100513, 10.1016/j.ymgmr.2019.100513 Li, 2003, The molecular machinery of synaptic vesicle exocytosis, Cell. Mol. Life Sci., 60, 942, 10.1007/s00018-003-2240-7 Lieberman, 2012, Autophagy in lysosomal storage disorders, Autophagy, 8, 719, 10.4161/auto.19469 Maetzel, 2014, Genetic and chemical correction of cholesterol accumulation and impaired autophagy in hepatic and neural cells derived from Niemann-Pick type C patient-specific iPS cells, Stem Cell Reports, 2, 866, 10.1016/j.stemcr.2014.03.014 Matsuda, 1997, beta-galactosidase-deficient mouse as an animal model for G(M1)-gangliosidosis, Glycoconj. J., 14, 729, 10.1023/A:1018573518127 Mayr, 2009, Novel trends in high-throughput screening, Curr. Opin. Pharmacol., 9, 580, 10.1016/j.coph.2009.08.004 Morita, 2009, Structural bases of GM1 gangliosidosis and Morquio B disease, J. Hum. Genet., 54, 510, 10.1038/jhg.2009.70 Numakawa, 1999, Neurotrophin-elicited short-term glutamate release from cultured cerebellar granule neurons, Brain Res., 842, 431, 10.1016/S0006-8993(99)01867-3 O'Leary, 2012, The therapeutic potential of pharmacological chaperones and proteosomal inhibitors, Celastrol and MG132 in the treatment of sialidosis, Mol. Genet. Metab., 107, 173, 10.1016/j.ymgme.2012.07.013 Okita, 2011, A more efficient method to generate integration-free human iPS cells, Nat. Methods, 8, 409, 10.1038/nmeth.1591 Qiao, 2013, The antimalarial amodiaquine causes autophagic-lysosomal and proliferative blockade sensitizing human melanoma cells to starvation-and chemotherapy-induced cell death, Autophagy, 9, 2087, 10.4161/auto.26506 Sandhoff, 2013, Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis, J. Neurosci., 33, 10195, 10.1523/JNEUROSCI.0822-13.2013 Sano, 2009, GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca2+-dependent mitochondrial apoptosis, Mol. Cell, 36, 500, 10.1016/j.molcel.2009.10.021 Shield, 2005, Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis, J. Inherit. Metab. Dis., 28, 797, 10.1007/s10545-005-0089-7 Soga, 2015, HPGCD outperforms HPBCD as a potential treatment for Niemann-Pick disease type C during disease modeling with iPS cells, Stem Cells, 33, 1075, 10.1002/stem.1917 Son, 2015, A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation, J. Pathol., 237, 98, 10.1002/path.4551 Suzuki, 2012, Therapeutic chaperone effect of N-octyl 4-epi-beta-valienamine on murine G(M1)-gangliosidosis, Mol. Genet. Metab., 106, 92, 10.1016/j.ymgme.2012.02.012 Suzuki, 2015, Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant alpha-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease, Hum. Mol. Genet., 24, 6675, 10.1093/hmg/ddv372 Takahashi, 2007, Induction of pluripotent stem cells from adult human fibroblasts by defined factors, Cell, 131, 861, 10.1016/j.cell.2007.11.019 Takamura, 2008, Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis, Biochem. Biophys. Res. Commun., 367, 616, 10.1016/j.bbrc.2007.12.187 Tessitore, 2004, G(M1)-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis, Mol. Cell, 15, 753, 10.1016/j.molcel.2004.08.029 Tucker, 2002, Role of synaptotagmin in Ca2+-triggered exocytosis, Biochem. J., 366, 1, 10.1042/bj20020776 Vardar, 2016, Distinct functions of syntaxin-1 in neuronal maintenance, synaptic vesicle docking, and fusion in mouse neurons, J. Neurosci., 36, 7911, 10.1523/JNEUROSCI.1314-16.2016 Venier, 2012, Miglustat as a therapeutic agent: prospects and caveats, J. Med. Genet., 49, 591, 10.1136/jmedgenet-2012-101070 Yoshino, 1990, Abnormal glycosphingolipid metabolism in the nervous system of galactosialidosis, J. Neurol. Sci., 97, 53, 10.1016/0022-510X(90)90098-8 Yue, 2009, The cellular pathways of neuronal autophagy and their implication in neurodegenerative diseases, Biochim. Biophys. Acta, 1793, 1496, 10.1016/j.bbamcr.2009.01.016