Huizing et al. Page 19 [109]. Walker MT, Montell C, Suppression of the motor deficit in a mucolipidosis type IV mouse A model by bone marrow transplantation, Hum Mol Genet 25 (2016) 2752–2761. [PubMed: uthor Man 27270598] [110]. Pshezhetsky AV, Martins C, Ashmarina M, Sanfilippo type C disease: pathogenic mechanism and potential therapeutic applications, Expert Opinion on Orphan Drugs 6 (2018) 635–646. [111]. Chen CC, Keller M, Hess M, Schiffmann R, Urban N, Wolfgardt A, Schaefer M, Bracher F, Biel uscr M, Wahl-Schott C, Grimm C, A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV, Nat Commun 5 (2014) 4681. [PubMed: 25119295] ipt [112]. Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordonez CL, Campbell PW, Ashlock MA, Ramsey BW, Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation, N Engl J Med 363 (2010) 1991–2003. [PubMed: 21083385] [113]. Poletti V, Biffi A, Gene-Based Approaches to Inherited Neurometabolic Diseases, Hum Gene Ther 30 (2019) 1222–1235. [PubMed: 31397176] A [114]. Gigliobianco MR, Di Martino P, Deng S, Casadidio C, Censi R, New Advanced Strategies for uthor Man the Treatment of Lysosomal Diseases Affecting the Central Nervous System, Curr Pharm Des 25 (2019) 1933–1950. [PubMed: 31566121] [115]. Ingusci S, Verlengia G, Soukupova M, Zucchini S, Simonato M, Gene Therapy Tools for Brain Diseases, Front Pharmacol 10 (2019) 724. [PubMed: 31312139] [116]. Yang Y, Hong Y, Cho E, Kim GB, Kim IS, Extracellular vesicles as a platform for membrane- uscr associated therapeutic protein delivery, J Extracell Vesicles 7 (2018) 1440131. [PubMed: 29535849] ipt [117]. Kohlschutter A, Schulz A, Bartsch U, Storch S, Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses, CNS Drugs 33 (2019) 315–325. [PubMed: 30877620] [118]. Harrison F, Yeagy BA, Rocca CJ, Kohn DB, Salomon DR, Cherqui S, Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis, Mol Ther 21 (2013) 433–444. [PubMed: 23089735] [119]. Maurizi A, Capulli M, Patel R, Curle A, Rucci N, Teti A, RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development, Bone 110 (2018) A 343–354. [PubMed: 29501587] uthor Man [120]. Ballabio A, The awesome lysosome, EMBO Mol Med 8 (2016) 73–76. [PubMed: 26787653] [121]. Zoncu R, Efeyan A, Sabatini DM, mTOR: from growth signal integration to cancer, diabetes and ageing, Nat Rev Mol Cell Biol 12 (2011) 21–35. [PubMed: 21157483] [122]. Scotto Rosato A, Montefusco S, Soldati C, Di Paola S, Capuozzo A, Monfregola J, Polishchuk uscr E, Amabile A, Grimm C, Lombardo A, De Matteis MA, Ballabio A, Medina DL, TRPML1 links lysosomal calcium to autophagosome biogenesis through the activation of the CaMKKbeta/ ipt VPS34 pathway, Nat Commun 10 (2019) 5630. [PubMed: 31822666] [123]. Ivanova EA, van den Heuvel LP, Elmonem MA, De Smedt H, Missiaen L, Pastore A, Mekahli D, Bultynck G, Levtchenko EN, Altered mTOR signalling in nephropathic cystinosis, J Inherit Metab Dis 39 (2016) 457–464. [PubMed: 26909499] [124]. Andrzejewska Z, Nevo N, Thomas L, Chhuon C, Bailleux A, Chauvet V, Courtoy PJ, Chol M, Guerrera IC, Antignac C, Cystinosin is a Component of the Vacuolar H+-ATPase-Ragulator-Rag Complex Controlling Mammalian Target of Rapamycin Complex 1 Signaling, J Am Soc Nephrol A 27 (2016) 1678–1688. [PubMed: 26449607] uthor Man [125]. Palmieri M, Pal R, Nelvagal HR, Lotfi P, Stinnett GR, Seymour ML, Chaudhury A, Bajaj L, Bondar VV, Bremner L, Saleem U, Tse DY, Sanagasetti D, Wu SM, Neilson JR, Pereira FA, Pautler RG, Rodney GG, Cooper JD, Sardiello M, mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases, Nat Commun 8 (2017) 14338. [PubMed: 28165011] uscr [126]. Alajoki L, Varho T, Posti K, Aula P, Korhonen T, Neurocognitive profiles in Salla disease, Dev Med Child Neurol 46 (2004) 832–837. [PubMed: 15581157] ipt Neurosci Lett. Author manuscript; available in PMC 2021 June 11.