Sanfilippo type C disease: pathogenic mechanism and potential therapeutic applications

References

• Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999 Jan 20;281(3):249–254. PubMed PMID: 9918480.
   PubMed Web of Science ®Google Scholar
• Bartsocas C, Grobe H, van de Kamp JJ, et al. Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III [Case reports]. Eur J Pediatr. 1979 Apr 3;130(4):251–258. PubMed PMID: 108106; eng.
   PubMed Web of Science ®Google Scholar
• Klein U, Kresse H, von Figura K. Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminideN-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci U S A. 1978 Oct;75(10):5185–5189. PubMed PMID: 33384; PubMed Central PMCID: PMC336290. eng.
   PubMed Web of Science ®Google Scholar
• Rome LH, Hill DF, Bame KJ, et al. Utilization of exogenously added acetyl coenzyme A by intact isolated lysosomes [Research support, Non-U.S. Gov’t Research support, U.S. Gov’t, P.H.S.]. J Biol Chem. 1983 Mar 10;258(5):3006–3011. PubMed PMID: 6402508; eng.
   PubMed Web of Science ®Google Scholar
• Bame KJ, Rome LH. Acetyl coenzyme A: alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism [Research support, Non-U.S. Gov’t Research support, U.S. Gov’t, P.H.S.]. J Biol Chem. 1985 Sep 15;260(20):11293–11299. PubMed PMID: 3897232; eng.
   PubMed Web of Science ®Google Scholar
• Pinto R, Caseiro C, Lemos M, et al. Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet. 2004 Feb;12(2):87–92. PubMed PMID: 14685153; eng.
   PubMed Web of Science ®Google Scholar
• Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet. 1999 Jul-Aug;105(1–2):151–156. PubMed PMID: 10480370; eng.
   PubMed Web of Science ®Google Scholar
• Neufeld EF, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WSeditors. The metabolic and molecular basis of inherited disease. USA, New-York: McGraw-Hill; 2001. p. 3421–3452.
   Google Scholar
• Valstar MJ, Ruijter GJ, van Diggelen OP, et al. Sanfilippo syndrome: a mini-review [Review]. J Inherit Metab Dis. 2008 Apr;31(2):240–252. PubMed PMID: 18392742; eng.
   PubMed Web of Science ®Google Scholar
• Haer-Wigman L, Newman H, Leibu R, et al. Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT). Hum Mol Genet. 2015 Jul 1;24(13):3742–3751. PubMed PMID: 25859010; PubMed Central PMCID: PMCPMC4459392.
   PubMed Web of Science ®Google Scholar
• Ausseil J, Loredo-Osti JC, Verner A, et al. Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8 [Research support, Non-U.S. Gov’t]. J Med Genet. 2004 Dec;41(12):941–945. PubMed PMID: 15591281; PubMed Central PMCID: PMC1735628. eng.
   PubMed Web of Science ®Google Scholar
• Seyrantepe V, Tihy F, Pshezhetsky AV. The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients [Research support, Non-U.S. Gov’t]. Hum Genet. 2006 Sep;120(2):293–296.. PubMed PMID: 16783568; eng.
   PubMed Web of Science ®Google Scholar
• Hrebicek M, Mrazova L, Seyrantepe V, et al. Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome) [Research support, Non-U.S. Gov’t]. Am J Hum Genet. 2006 Nov;79(5):807–819. PubMed PMID: 17033958; PubMed Central PMCID: PMC1698556.eng.
   PubMed Web of Science ®Google Scholar
• Fan X, Zhang H, Zhang S, et al. Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C) [Research support, Non-U.S. Gov’t]. Am J Hum Genet. 2006 Oct;79(4):738–744. PubMed PMID: 16960811; PubMed Central PMCID: PMC1592569. eng.
   PubMed Web of Science ®Google Scholar
• Feldhammer M, Durand S, Mrazova L, et al. Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene [Research support, Non-U.S. Gov’t ** First review of mutations in MPS IIIC patients Review]. Hum Mutat. 2009 Jun;30(6):918–925. PubMed PMID: 19479962; eng.
   PubMed Web of Science ®Google Scholar
• Ruijter GJ, Valstar MJ, van de Kamp JM, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands [Research support, Non-U.S. Gov’t]. Mol Genet Metab. 2008 Feb;93(2):104–111. PubMed PMID: 18024218; eng.
   PubMed Web of Science ®Google Scholar
• Matos L, Canals I, Dridi L, et al. Therapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations. Orphanet J Rare Dis. 2014 Dec 10;9:180. PubMed PMID: 25491247; PubMed Central PMCID: PMCPMC4279800.
   PubMed Web of Science ®Google Scholar
• Ali Pervaiz M, Patterson MC, Struys EA, et al. Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol. 2011 Aug;258(8):1564–1565. PubMed PMID: 21384162.
   PubMed Web of Science ®Google Scholar
• Canals I, Elalaoui SC, Pineda M, et al. Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles. Clin Genet. 2011 Oct;80(4):367–374. PubMed PMID: 20825431.
   PubMed Web of Science ®Google Scholar
• Durand S, Feldhammer M, Bonneil E, et al. Analysis of the biogenesis of heparan sulfate acetyl-CoA: alpha-glucosaminideN-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC [Research support, Non-U.S. Gov’t]. J Biol Chem. 2010 Oct 8;285(41):31233–31242. PubMed PMID: 20650889; PubMed Central PMCID: PMC2951197. eng.
   PubMed Web of Science ®Google Scholar
• Fedele AO, Filocamo M, Di Rocco M, et al. Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online [Research support, Non-U.S. Gov’t]. Hum Mutat. 2007 May;28(5):523. PubMed PMID: 17397050; eng.
   PubMedGoogle Scholar
• Coutinho MF, Lacerda L, Prata MJ, et al. Molecular characterization of Portuguese patients with mucopolysaccharidosis IIIC: two novel mutations in the HGSNAT gene [Letter research support, Non-U.S. Gov’t]. Clin Genet. 2008 Aug;74(2):194–195. PubMed PMID: 18518886; eng.
   PubMed Web of Science ®Google Scholar
• Ouesleti S, Coutinho MF, Ribeiro I, et al. Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations. World J Pediatr. 2017 Aug;13(4):374–380. 10.1007/s12519-017-0005-x. PubMed PMID: 28101780.
   PubMed Web of Science ®Google Scholar
• Ouesleti S, Brunel V, Ben Turkia H, et al. Molecular characterization of MPS IIIA, MPS IIIB and MPS IIIC in Tunisian patients. Clin Chim Acta. 2011 Nov 20;412(23–24):2326–2331. PubMed PMID: 21910976.
   PubMed Web of Science ®Google Scholar
• Velasco HM, Sanchez Y, Martin AM, et al. Natural history of sanfilippo syndrome type C in Boyaca, Colombia. J Child Neurol. 2017 Feb;32(2):177–183. PubMed PMID: 27733599.
   PubMed Web of Science ®Google Scholar
• Helenius A, Marquardt T, Braakman I. The endoplasmic reticulum as a protein-folding compartment. Trends Cell Biol. 1992 Aug;2(8):227–231. PubMed PMID: 14731479.
   PubMedGoogle Scholar
• Fedele AO, Hopwood JJ. Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome). Hum Mutat. 2010 Jul;31(7):E1574–86.. PubMed PMID: 20583299.
   PubMed Web of Science ®Google Scholar
• Maquat LE. When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. Rna. 1995 Jul;1(5):453–465. PubMed PMID: 7489507; PubMed Central PMCID: PMCPMC1482424.
   PubMed Web of Science ®Google Scholar
• Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C [Research support, Non-U.S. Gov’t]. PLoS One. 2009;4(10):e7434. PubMed PMID: 19823584; PubMed Central PMCID: PMC2757673.eng.
   PubMed Web of Science ®Google Scholar
• Huh HJ, Seo JY, Cho SY, et al. The first Korean case of mucopolysaccharidosis IIIC (Sanfilippo syndrome type C) confirmed by biochemical and molecular investigation. Ann Lab Med. 2013 Jan;33(1):75–79. PubMed PMID: 23301227; PubMed Central PMCID: PMCPMC3535201.
   PubMed Web of Science ®Google Scholar
• Hu H, Hubner C, Lukacs Z, et al. Kluver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C). Eur J Hum Genet. 2017 Feb;25(2):253–256. PubMed PMID: 27827379; PubMed Central PMCID: PMCPMC5255949.
   PubMed Web of Science ®Google Scholar
• Martins C, Hulkova H, Dridi L, et al. Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model [Research support, Non-U.S. Gov’t]. Brain. 2015 Feb;138(Pt 2):336–355. PubMed PMID: 25567323; PubMed Central PMCID: PMC4306821.eng.
   PubMedGoogle Scholar
• Ryazantsev S, Yu WH, Zhao HZ, et al. Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B [Research support, N.I.H., Extramural research support, Non-U.S. Gov’t]. Mol Genet Metab. 2007 Apr;90(4):393–401. PubMed PMID: 17185018; PubMed Central PMCID: PMC1892176. eng.
   PubMed Web of Science ®Google Scholar
• McGlynn R, Dobrenis K, Walkley SU. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders [Comparative study research support, Non-U.S. Gov’tResearch support, U.S. Gov’t, P.H.S.]. J Comp Neurol. 2004 Dec 20;480(4):415–426.. PubMed PMID: 15558784; eng.
   PubMed Web of Science ®Google Scholar
• Baregamian N, Song J, Bailey CE, et al. Tumor necrosis factor-alpha and apoptosis signal-regulating kinase 1 control reactive oxygen species release, mitochondrial autophagy, and c-Jun N-terminal kinase/p38 phosphorylation during necrotizing enterocolitis [Research support, N.I.H., Extramural research support, Non-U.S. Gov’t]. Oxid Med Cell Longev. 2009 Nov-Dec;2(5):297–306. PubMed PMID: 20716917; PubMed Central PMCID: PMC2835918. eng.
   PubMed Web of Science ®Google Scholar
• Chen XH, Zhao YP, Xue M, et al. TNF-alpha induces mitochondrial dysfunction in 3T3-L1 adipocytes [Research support, Non-U.S. Gov’t]. Mol Cell Endocrinol. 2010 Oct 26;328(1–2):63–69. PubMed PMID: 20667497; eng.
   PubMed Web of Science ®Google Scholar
• Vitner EB, Farfel-Becker T, Eilam R, et al. Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher’s disease [Research support, Non-U.S. Gov’t]. Brain. 2012 Jun;135(Pt 6):1724–1735. PubMed PMID: 22566609; eng.
   PubMedGoogle Scholar
• Shapiro EG, Nestrasil I, Ahmed A, et al. Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo Behavior Rating Scale. Mol Genet Metab. 2015 Apr;114(4):594–598. PubMed PMID: 25770355; eng.
   PubMed Web of Science ®Google Scholar
• Marco S, Pujol A, Roca C, et al. Progressive neurologic and somatic disease in a novel mouse model of human mucopolysaccharidosis type IIIC. Dis Model Mech. 2016 Sep 1;9(9):999–1013. PubMed PMID: 27491071; PubMed Central PMCID: PMCPMC5047683.
   PubMed Web of Science ®Google Scholar
• Cressant A, Desmaris N, Verot L, et al. Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum [Comparative study research support, Non-U.S. Gov’t]. J Neurosci. 2004 Nov 10;24(45):10229–10239. PubMed PMID: 15537895; eng.
   PubMed Web of Science ®Google Scholar
• Ciron C, Desmaris N, Colle MA, et al. Gene therapy of the brain in the dog model of Hurler’s syndrome [Research support, Non-U.S. Gov’t]. Ann Neurol. 2006 Aug;60(2):204–213. PubMed PMID: 16718701; eng.
   PubMedGoogle Scholar
• Markakis EA, Vives KP, Bober J, et al. Comparative transduction efficiency of AAV vector serotypes 1-6 in the substantia nigra and striatum of the primate brain [Research support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov’t]. Molecular Therapy: the Journal of the American Society of Gene Therapy. 2010 Mar;18(3):588–593. PubMed PMID: 20010918; PubMed Central PMCID: PMC2839442. eng.
   PubMed Web of Science ®Google Scholar
• Tordo J, O’Leary C, Antunes A, et al. A novel adeno-associated virus capsid with enhanced neurotropism corrects a lysosomal transmembrane enzyme deficiency. Brain. PubMed PMID: 29788236 May 16 2018. Doi:10.1093/brain/awy126.
   PubMed Web of Science ®Google Scholar
• Mader KM, Beard H, King BM, et al. Effect of high dose, repeated intra-cerebrospinal fluid injection of sulphamidase on neuropathology in mucopolysaccharidosis type IIIA mice. Genes, Brain, and Behavior. 2008 Oct;7(7):740–753. PubMed PMID: 18518922; eng.
   PubMed Web of Science ®Google Scholar
• Kohlschutter A, Schulz A. CLN2 disease (Classic late infantile neuronal ceroid lipofuscinosis). Pediatr Endocrinol Rev. 2016 Jun;13(Suppl 1):682–688. PubMed PMID: 27491216.
   PubMed Web of Science ®Google Scholar
• Jones SA, Breen C, Heap F, et al. A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA. Mol Genet Metab. 2016 Jul;118(3):198–205. PubMed PMID: 27211612.
   PubMed Web of Science ®Google Scholar
• Muenzer J, Hendriksz CJ, Fan Z, et al. A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II. Genet Med. 2016 Jan;18(1):73–81. PubMed PMID: 25834948.
   PubMed Web of Science ®Google Scholar
• Bonney DK, O’Meara A, Shabani A, et al. Successful allogeneic bone marrow transplant for Niemann-Pick disease type C2 is likely to be associated with a severe ‘graft versus substrate’ effect [Case reports]. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S171–3. PubMed PMID: 20393800; eng.
   PubMed Web of Science ®Google Scholar
• Krivit W, Sung JH, Shapiro EG, et al. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases [Research support, U.S. Gov’t, P.H.S. Review]. Cell Transplantation. 1995 Jul-Aug;4(4):385–392. PubMed PMID: 7582569; eng.
   PubMed Web of Science ®Google Scholar
• Biffi A, De Palma M, Quattrini A, et al. Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells. J Clin Invest. 2004 Apr;113(8):1118–1129. PubMed PMID: 15085191; PubMed Central PMCID: PMCPMC385395.• .
   PubMed Web of Science ®Google Scholar
• Shemesh E, Deroma L, Bembi B, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015 Mar 27;3:CD010324. Doi:10.1002/14651858.CD010324.pub2. PubMed PMID: 25812601.
   PubMed Web of Science ®Google Scholar
• Malinowska M, Wilkinson FL, Langford-Smith KJ, et al. Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One. 2010 Dec 1;5(12):e14192. PubMed PMID: 21152017; PubMed Central PMCID: PMCPMC2995736.
   PubMed Web of Science ®Google Scholar
• de Ruijter J, Valstar MJ, Narajczyk M, et al. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol. 2012 Jan;71(1):110–120. PubMed PMID: 22275257.• .
   PubMed Web of Science ®Google Scholar
• Sergijenko A, Langford-Smith A, Liao AY, et al. Myeloid/Microglial driven autologous hematopoietic stem cell gene therapy corrects a neuronopathic lysosomal disease [Research support, Non-U.S. Gov’t]. Mol Ther. 2013 Oct;21(10):1938–1949. PubMed PMID: 23748415; PubMed Central PMCID: PMC3808137. eng.
   PubMed Web of Science ®Google Scholar
• Wilkinson FL, Sergijenko A, Langford-Smith KJ, et al. Busulfan conditioning enhances engraftment of hematopoietic donor-derived cells in the brain compared with irradiation. Mol Ther. 2013 Apr;21(4):868–876. PubMed PMID: 23423338; PubMed Central PMCID: PMCPMC3616529.
   PubMed Web of Science ®Google Scholar
• Biffi A, Montini E, Lorioli L, et al. Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy [Clinical trial research support, Non-U.S. Gov’t]. Science. 2013 Aug 23;341(6148):1233158. PubMed PMID: 23845948; eng.
   PubMed Web of Science ®Google Scholar
• Capotondo A, Milazzo R, Politi LS, et al. Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation. Proc Natl Acad Sci U S A. 2012 Sep 11;109(37):15018–15023. PubMed PMID: 22923692; PubMed Central PMCID: PMCPMC3443128.
   PubMed Web of Science ®Google Scholar
• Sessa M, Lorioli L, Fumagalli F, et al. Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial. Lancet. 2016 Jul 30;388(10043):476–487. PubMed PMID: 27289174.
   PubMed Web of Science ®Google Scholar
• Larochelle A, Bellavance MA, Michaud JP, et al. Bone marrow-derived macrophages and the CNS: an update on the use of experimental chimeric mouse models and bone marrow transplantation in neurological disorders. Biochim Biophys Acta. 2016 Mar;1862(3):310–322. PubMed PMID: 26432480.
   PubMed Web of Science ®Google Scholar
• Holley RJ, Ellison SM, Fil D, et al. Macrophage enzyme and reduced inflammation drive brain correction of mucopolysaccharidosis IIIB by stem cell gene therapy. Brain. 2018 Jan 1;141(1):99–116. PubMed PMID: 29186350.
   Google Scholar
• Langford-Smith A, Wilkinson FL, Langford-Smith KJ, et al. Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. Mol Ther. 2012 Aug;20(8):1610–1621. PubMed PMID: 22547151; PubMed Central PMCID: PMCPMC3421066.
   PubMed Web of Science ®Google Scholar
• Fan JQ, Ishii S, Asano N, et al. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med. 1999 Jan;5(1):112–115. PubMed PMID: 9883849.
   PubMed Web of Science ®Google Scholar
• Frustaci A, Chimenti C, Ricci R, et al. Improvement in cardiac function in the cardiac variant of Fabry’s disease with galactose-infusion therapy. N Engl J Med. 2001 Jul 5;345(1):25–32. PubMed PMID: 11439944.
   PubMed Web of Science ®Google Scholar
• Asano N, Ishii S, Kizu H, et al. In vitro inhibition and intracellular enhancement of lysosomal alpha-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives. Eur J Biochem. 2000 Jul;267(13):4179–4186. PubMed PMID: 10866822.
   PubMedGoogle Scholar
• Sawkar AR, Cheng WC, Beutler E, et al. Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease. Proc Natl Acad Sci U S A. 2002 Nov 26;99(24):15428–15433. PubMed PMID: 12434014; PubMed Central PMCID: PMCPMC137733.
   PubMed Web of Science ®Google Scholar
• Matsuda J, Suzuki O, Oshima A, et al. Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15912–15917. PubMed PMID: 14676316; PubMed Central PMCID: PMCPMC307667.
   PubMed Web of Science ®Google Scholar
• Tropak MB, Reid SP, Guiral M, et al. Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients. J Biol Chem. 2004 Apr 2;279(14):13478–13487. PubMed PMID: 14724290; PubMed Central PMCID: PMCPMC2904802.
   PubMed Web of Science ®Google Scholar
• Maegawa GH, Tropak M, Buttner J, et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem. 2007 Mar 23;282(12):9150–9161. PubMed PMID: 17237499; PubMed Central PMCID: PMCPMC1851921.
   PubMed Web of Science ®Google Scholar
• Desnick RJ. Enzyme replacement and enhancement therapies for lysosomal diseases. PubMed PMID: 15190196 J Inherit Metab Dis. 2004;273:385–410.
   PubMed Web of Science ®Google Scholar
• Parenti G. Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics. EMBO Mol Med. 2009 Aug;1(5):268–279.. PubMed PMID: 20049730; PubMed Central PMCID: PMCPMC3378140.
   PubMed Web of Science ®Google Scholar
• Arora K, Naren AP. Pharmacological correction of cystic fibrosis: molecular mechanisms at the plasma membrane to augment mutant CFTR function. Curr Drug Targets. 2016;17(11): 1275–1281. PubMed PMID: 26648081.
   PubMed Web of Science ®Google Scholar
• Narita A, Shirai K, Itamura S, et al. Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study. Ann Clin Transl Neurol. 2016 Mar;3(3):200–215. PubMed PMID: 27042680; PubMed Central PMCID: PMCPMC4774255.
   PubMed Web of Science ®Google Scholar
• Parenti G, Fecarotta S, la Marca G, et al. A chaperone enhances blood alpha-glucosidase activity in Pompe disease patients treated with enzyme replacement therapy. Mol Ther. 2014 Nov;22(11):2004–2012. PubMed PMID: 25052852; PubMed Central PMCID: PMCPMC4429731.
   PubMed Web of Science ®Google Scholar
• Germain DP, Hughes DA, Nicholls K, et al. Treatment of Fabry’s disease with the pharmacologic chaperone migalastat. N Engl J Med. 2016 Aug 11;375(6):545–555. PubMed PMID: 27509102.
   PubMed Web of Science ®Google Scholar
• Boyd RE, Lee G, Rybczynski P, et al. Pharmacological chaperones as therapeutics for lysosomal storage diseases. J Med Chem. 2013 Apr 11;56(7):2705–2725. PubMed PMID: 23363020.
   PubMed Web of Science ®Google Scholar