Sonntag, Juli 31, 2022
StartBiotechnologyEnvironment friendly CRISPR/Cas9 nickase-mediated genome enhancing in an in vitro mannequin of...

Environment friendly CRISPR/Cas9 nickase-mediated genome enhancing in an in vitro mannequin of mucopolysaccharidosis IVA


  • Sawamoto Ok, Álvarez González JV, Piechnik M, Otero FJ, Couce ML, Suzuki Y, et al. Mucopolysaccharidosis IVA: prognosis, therapy, and administration. Int J Mol Sci. 2020;21:1–26.

    Article 
    CAS 

    Google Scholar
     

  • Rivera-Colón Y, Schutsky EK, Kita AZ, Garman SC. The construction of human GALNS reveals the molecular foundation for mucopolysaccharidosis IV A. J Mol Biol. 2012;423:736–51.

    PubMed 
    PubMed Central 
    Article 
    CAS 

    Google Scholar
     

  • Çelik B, Tomatsu SC, Tomatsu S, Khan SA. Epidemiology of Mucopolysaccharidoses replace. Diagnostics. 2021;11:1–37.


    Google Scholar
     

  • Gómez AMG-RR, Suárez-Obando, F. Estimation of the mucopolysaccharidoses frequencies and cluster evaluation within the Colombian orovinces of Cundinamarca and Boyacá. Biomedica. 2012;32:602–9.

    PubMed 

    Google Scholar
     

  • Sistema de Vigilancia en Salud Pública (Sivigila). Enfermedades huérfanas—raras, Colombia, periodo epidemiológico I 2021. In: Instituto Nacional de Salud, 2021. pp 1–8.

  • Puentes-Tellez MA, Lerma-Barbosa PA, Garzon-Jaramillo RG, Suarez DA, Espejo-Mojica AJ, Guevara JM, et al. A perspective on analysis, prognosis, and administration of lysosomal storage issues in Colombia. Heliyon. 2020;6:e03635.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Cleary M, Davison J, Gould R, Geberhiwot T, Hughes D, Mercer J, et al. Influence of long-term elosulfase alfa therapy on scientific and patient-reported outcomes in sufferers with mucopolysaccharidosis sort IVA: outcomes from a Managed Entry Settlement in England. Orphanet J Uncommon Dis. 2021;16:38.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Leal AF, Espejo-Mojica AJ, Sánchez OF, Ramírez CM, Reyes LH, Cruz JC, et al. Lysosomal storage illnesses: present therapies and future options. J Mol Med. 2020;98:931–46.

    PubMed 
    Article 

    Google Scholar
     

  • Akyol MU, Alden TD, Amartino H, Ashworth J, Belani Ok, Berger KI, et al. Suggestions for the administration of MPS IVA: systematic evidence- and consensus-based steering. Orphanet J Uncommon Dis. 2019;14:137.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Lee CLCC, Chiu HC, Tu RY, Lo YT, Chang YH, Lin SP, et al. Medical utility of elosulfase alfa within the therapy of morquio A syndrome. Drug Des Dev Ther. 2022;16:143–54.

    CAS 
    Article 

    Google Scholar
     

  • Sawamoto Ok, Stapleton M, Almeciga-Diaz CJ, Espejo-Mojica AJ, Losada JC, Suarez DA, et al. Therapeutic choices for mucopolysaccharidoses: present and rising remedies. Medicine. 2019;79:1103–34.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Donida B, Marchetti DP, Jacques CED, Ribas G, Deon M, Manini P, et al. Oxidative profile exhibited by Mucopolysaccharidosis sort IVA sufferers at prognosis: elevated keratan urinary ranges. Mol Genet Metab Rep. 2017;11:46–53.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Donida B, Marchetti DP, Biancini GB, Deon M, Manini PR, da Rosa HT, et al. Oxidative stress and irritation in mucopolysaccharidosis sort IVA sufferers handled with enzyme substitute remedy. Biochim Biophys Acta. 2015;1852:1012–9.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Schweighardt B, Tompkins T, Lau Ok, Jesaitis L, Qi Y, Musson DG, et al. Immunogenicity of Elosulfase Alfa, an enzyme substitute remedy in sufferers with Morquio A syndrome: outcomes from MOR-004, a section III trial. Clin Ther. 2015;37:1012–21. e6

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Lengthy B, Tompkins T, Decker C, Jesaitis L, Khan S, Slasor P, et al. Lengthy-term immunogenicity of Elosulfase Alfa within the therapy of Morquio a syndrome: outcomes from MOR-005, a section III extension examine. Clin Ther. 2017;39:118–29. e3

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Olarte-Avellaneda S, Cepeda Del Castillo J, Rojas-Rodriguez AF, Sánchez O, Rodríguez-López A, Suárez García DA, et al. Bromocriptine as a novel pharmacological chaperone for mucopolysaccharidosis IV A. ACS Med Chem Lett. 2020;11:1377–85.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Losada Díaz JC, Cepeda del Castillo J, Rodriguez-López EA, Alméciga-Díaz CJ. Advances within the improvement of pharmacological chaperones for the mucopolysaccharidoses. Int J Mol Sci. 2020;21:232.

    Article 
    CAS 

    Google Scholar
     

  • Almeciga-Diaz CJ, Hidalgo OA, Olarte-Avellaneda S, Rodriguez-Lopez A, Guzman E, Garzon R, et al. Identification of ezetimibe and pranlukast as pharmacological chaperones for the therapy of the uncommon illness mucopolysaccharidosis sort IVA. J Med Chem. 2019;62:6175–89.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Poletto E, Baldo G, Gomez-Ospina N. Genome enhancing for mucopolysaccharidoses. Int J Mol Sci. 2020;21:1–20.

    Article 
    CAS 

    Google Scholar
     

  • Alméciga-Diaz CJ, Barrera LA. Design and purposes of gene remedy vectors for mucopolysaccharidosis in Colombia. Gene Ther. 2020;27:104–7.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Biffi A. Gene remedy for lysosomal storage issues: an excellent begin. Hum Mol Genet. 2016;25:R65–75.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Puentes-Tellez MA, Sánchez OF, Rojas-Rodriguez F, Benincore-Flórez E, Barbosa H, Alméciga Díaz CJ. Analysis of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis sort IV a fibroblasts. Gene. 2021;780:145527.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Alméciga-Díaz CJ, Montaño AM, Barrera LA, Tomatsu S. Tailoring the AAV2 capsid vector for bone-targeting. Pediatr Res. 2018;84:545–51.

    PubMed 
    PubMed Central 
    Article 
    CAS 

    Google Scholar
     

  • Gutierrez MA, Garcia-Vallejo F, Tomatsu S, Ceron F, Almeciga-Diaz CJ, Dominguez MC, et al. Building of an adenoassociated virus-derived expression vector to appropriate the genetic defect in Morquio A illness. Biomedica. 2008;28:448–59.

    PubMed 
    Article 

    Google Scholar
     

  • Alméciga-Díaz C, Montaño AM, Tomatsu S, Barrera L. Adeno-associated virus gene switch on Morquio A: impact of promoters and sulfatase-modifying issue 1. FEBS J. 2010;277:3608–19.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Sawamoto Ok, Karumuthil-Melethil S, Khan S, Stapleton M, Bruder JT, Danos O, et al. Liver-targeted AAV8 gene remedy ameliorates skeletal and cardiovascular pathology in a Mucopolysaccharidosis IVA murine mannequin. Mol Ther Strategies Clin Dev. 2020;18:50–61.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Bertolin J, Sánchez V, Ribera A, Jaén ML, Garcia M, Pujol A, et al. Therapy of skeletal and non-skeletal alterations of Mucopolysaccharidosis sort IVA by AAV-mediated gene remedy. Nat Commun. 2021;12:5343.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Milone MC, O’Doherty U. Medical use of lentiviral vectors. Leukemia. 2018;32:1529–41.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Choudhury SR, Hudry E, Maguire CA, Sena-Esteves M, Breakefield XO, Grandi P. Viral vectors for remedy of neurologic illnesses. Neuropharmacology. 2017;120:63–80.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Karimian A, Azizian Ok, Parsian H, Rafieian S, Shafiei-Irannejad V, Kheyrollah M, et al. CRISPR/Cas9 expertise as a potent molecular instrument for gene remedy. J Cell Physiol. 2019;234:12267–77.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Jiang F, Doudna JA. CRISPR-Cas9 constructions and mechanisms. Annu Rev Biophys. 2017;46:505–29.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Chiang TW, le Sage C, Larrieu D, Demir M, Jackson SP. CRISPR-Cas9(D10A) nickase-based genotypic and phenotypic screening to boost genome enhancing. Sci Rep. 2016;6:24356.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Wilson LOW, O’Brien AR, Bauer DC. The present state and way forward for CRISPR-Cas9 gRNA design instruments. Entrance Pharmacol. 2018;9:749.

    PubMed 
    PubMed Central 
    Article 
    CAS 

    Google Scholar
     

  • Schuh RS, Gonzalez EA, Tavares AMV, Seolin BG, Elias LS, Vera LNP, et al. Neonatal nonviral gene enhancing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone illness options of the mucopolysaccharidosis I phenotype in mice. Gene Ther. 2020;27:74–84.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Schuh RS, Poletto E, Pasqualim G, Tavares AMV, Meyer FS, Gonzalez EA, et al. In vivo genome enhancing of mucopolysaccharidosis I mice utilizing the CRISPR/Cas9 system. J Management Launch. 2018;288:23–33.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Schuh RS, de CTG, Giugliani R, Matte U, Baldo G, Teixeira HF. Gene enhancing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide utilizing nanoemulsions as nonviral carriers. Eur J Pharm Biopharm. 2018;122:158–66.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Ou L, Przybilla MJ, Tăbăran AF, Overn P, O’Sullivan MG, Jiang X, et al. A novel gene enhancing system to deal with each Tay-Sachs and Sandhoff illnesses. Gene Ther. 2020;27:226–36.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Pachajoa H, Acosta MA, Alméciga-Díaz CJ, Ariza Y, Diaz-Ordoñez L, Caicedo-Herrera G, et al. Molecular characterization of mucopolysaccharidosis sort IVA sufferers within the Andean area of Colombia. Am J Med Genet C Semin Med Genet. 2021;187:388–95.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Uniyal AP, Mansotra Ok, Yadav SK, Kumar V. An outline of designing and choice of sgRNAs for exact genome enhancing by the CRISPR-Cas9 system in vegetation. 3 Biotech. 2019;9:223.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Tomatsu S, Montano AM, Gutierrez M, Grubb JH, Oikawa H, Dung VC, et al. Characterization and pharmacokinetic examine of recombinant human N-acetylgalactosamine-6-sulfate sulfatase. Mol Genet Metab. 2007;91:69–78.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Brinkman EK, Chen T, Amendola M, van Steensel B. Simple quantitative evaluation of genome enhancing by sequence hint decomposition. Nucleic Acids Res. 2014;42:e168.

    PubMed 
    PubMed Central 
    Article 
    CAS 

    Google Scholar
     

  • Aranda PS, LaJoie DM, Jorcyk CL. Bleach gel: a easy agarose gel for analyzing RNA high quality. Electrophoresis. 2012;33:366–9.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • van Diggelen OP, Zhao H, Kleijer WJ, Janse HC, Poorthuis BJ, van Pelt J, et al. A fluorimetric enzyme assay for the prognosis of Morquio illness sort A (MPS IV A). Clin Chim Acta. 1990;187:131–9.

    PubMed 
    Article 

    Google Scholar
     

  • de Carvalho TG, Schuh R, Pasqualim G, Pellenz FM, Filippi-Chiela EC, Giugliani R, et al. CRISPR-Cas9-mediated gene enhancing in human MPS I fibroblasts. Gene. 2018;678:33–37.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Schneider CA, Rasband WS, Eliceiri KW. NIH Picture to ImageJ: 25 years of picture evaluation. Nat Strategies. 2012;9:671–5.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Lee YW, Cherng YG, Yang ST, Liu SH, Chen TL, Chen RM. Hypoxia induced by cobalt chloride triggers autophagic apoptosis of human and mouse drug-resistant glioblastoma cells via concentrating on the PI3K-AKT-mTOR signaling pathway. Oxid Med Cell Longev. 2021;2021:5558618.

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Muñoz-Sánchez J, Chánez-Cárdenas ME. Using cobalt chloride as a chemical hypoxia mannequin. J Appl Toxicol. 2019;39:556–70.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Dunbar CE, Excessive KA, Joung JK, Kohn DB, Ozawa Ok, Sadelain M. Gene remedy comes of age. Science. 2018;359:1–10.

    Article 
    CAS 

    Google Scholar
     

  • Fujitsuka H, Sawamoto Ok, Peracha H, Mason RW, Mackenzie W, Kobayashi H, et al. Biomarkers in sufferers with mucopolysaccharidosis sort II and IV. Mol Genet Metab Rep. 2019;19:100455.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Leal AF, Espejo-Mojica AJ, Alméciga-Díaz CJ. Genome enhancing on GM2 gangliosidoses fibroblasts utilizing CRISPR/nCas9. Mol Genet Metab. 2022;135:S72.


    Google Scholar
     

  • Jones J, Nivitchanyong T, Giblin C, Ciccarone V, Judd D, Gorfien S, et al. Optimization of tetracycline-responsive recombinant protein manufacturing and impact on cell progress and ER stress in mammalian cells. Biotechnol Bioeng. 2005;91:722–32.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Tossolini I, Gugliotta A, López Díaz F, Kratje R, Prieto C. Screening of CHO-K1 endogenous promoters for expressing recombinant proteins in mammalian cell cultures. Plasmid. 2022;119-120:102620.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Borkham-Kamphorst E, Steffen BT, Van de Leur E, Haas U, Tihaa L, Friedman SL, et al. CCN1/CYR61 overexpression in hepatic stellate cells induces ER stress-related apoptosis. Cell Sign. 2016;28:34–42.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Chen BD, He CH, Chen XC, Pan S, Liu F, Ma X, et al. Focusing on transgene to the center and liver with AAV9 by totally different promoters. Clin Exp Pharmacol Physiol. 2015;42:1108–17.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Conlon TJ, Erger Ok, Porvasnik S, Cossette T, Roberts C, Combee L, et al. Preclinical toxicology and biodistribution research of recombinant adeno-associated virus 1 human acid alpha-glucosidase. Hum Gene Ther Clin Dev. 2013;24:127–33.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Chen Q, Zhai H, Li X, Ma Y, Chen B, Liu F, et al. Recombinant adeno-associated virus serotype 9 in a mouse mannequin of atherosclerosis: Willpower of the optimum expression time in vivo. Mol Med Rep. 2017;15:2090–6.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Geng L, Gao Y, Chen X, Hou S, Zhan CG, Radic Z, et al. Gene switch of mutant mouse cholinesterase supplies excessive lifetime expression and lowered cocaine responses with no evident toxicity. PLoS One. 2013;8:e67446.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Schuh RS, Bidone J, Poletto E, Pinheiro CV, Pasqualim G, de Carvalho TG, et al. Nasal administration of cationic nanoemulsions as nucleic acids supply techniques aiming at mucopolysaccharidosis sort I gene remedy. Pharm Res. 2018;35:221.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Rintz E, Higuchi T, Kobayashi H, Galileo DS, Wegrzyn G, Tomatsu S. Promoter issues within the design of lentiviral vectors to be used in treating lysosomal storage illnesses. Mol Ther Strategies Clin Dev. 2022;24:71–87.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Alméciga-Díaz CJ, Montaño AM, Tomatsu S, Barrera LA. Adeno-associated virus gene switch in Morquio A illness—impact of promoters and sulfatase-modifying issue 1. FEBS J. 2010;277:3608–19.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Alméciga-Díaz C, Rueda-Paramo M, Espejo A, Echeverri O, Montaño A, Tomatsu S, et al. Impact of Elongation Issue 1α promoter and SUMF1 over in-vitro expression of N-acetylgalactosamine-6-sulfate sulfatase. Mol Biol Rep. 2009;36:1863–70.

    PubMed 
    Article 
    CAS 

    Google Scholar
     

  • Satomura A, Nishioka R, Mori H, Sato Ok, Kuroda Ok, Ueda M. Exact genome-wide base enhancing by the CRISPR Nickase system in yeast. Sci Rep. 2017;7:2095.

    PubMed 
    PubMed Central 
    Article 
    CAS 

    Google Scholar
     

  • Ge XA, Hunter CP. Environment friendly homologous recombination in mice utilizing lengthy single stranded DNA and CRISPR Cas9 nickase. G3. 2019;9:281–6.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Rong Z, Zhu S, Xu Y, Fu X. Homologous recombination in human embryonic stem cells utilizing CRISPR/Cas9 nickase and an extended DNA donor template. Protein Cell. 2014;5:258–60.

    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Christensen CL, Ashmead RE, Choy FYM. Cell and gene therapies for mucopolysaccharidoses: base enhancing and therapeutic supply to the CNS. Illnesses. 2019;7:1–27.

    Article 
    CAS 

    Google Scholar
     

  • Morrone A, Tylee KL, Al-Sayed M, Brusius-Facchin AC, Caciotti A, Church HJ, et al. Molecular testing of 163 sufferers with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations. Mol Genet Metab. 2014;112:160–70.

    CAS 
    PubMed 
    PubMed Central 
    Article 

    Google Scholar
     

  • Khan S, Alméciga-Díaz CJ, Sawamoto Ok, Mackenzie WG, Theroux MC, Pizarro C, et al. Mucopolysaccharidosis IVA and glycosaminoglycans. Mol Genet Metab. 2017;120:78–95.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Zanetti A, D’Avanzo F, AlSayed M, Brusius-Facchin AC, Chien YH, Giugliani R, et al. Molecular foundation of mucopolysaccharidosis IVA (Morquio A syndrome): a assessment and classification of GALNS gene variants and reporting of 68 novel variants. Hum Mutat. 2021;42:1384–98.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa Ok, Kondo N, et al. Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and evaluation of the 5’-flanking area. Genomics. 1994;20:99–104.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Giraldo KA, Bermudez JS, Torres CE, Reyes LH, Osma JF, Cruz JC. Microfluidics for multiphase mixing and liposomal encapsulation of nanobioconjugates: passive vs. acoustic techniques. Fluids. 2021;6:309.

    CAS 
    Article 

    Google Scholar
     

  • Lopez-Barbosa N, Suarez-Arnedo A, Cifuentes J, Gonzalez BAF, Silvera BCA, Osma JF, et al. Magnetite-OmpA nanobioconjugates as cell-penetrating automobiles with endosomal escape skills. ACS Biomater Sci Eng. 2020;6:415–24.

    CAS 
    PubMed 
    Article 

    Google Scholar
     

  • Aranguren A, Torres CE, Muñoz-Camargo C, Osma JF, Cruz JC. Synthesis of nanoscale liposomes through low-cost microfluidic techniques. Micromachines. 2020;11:1050.

    PubMed Central 
    Article 

    Google Scholar
     

  • RELATED ARTICLES

    Most Popular

    Recent Comments