Monday, November 14, 2022
HomeMicrobiologyA strong bacterial high-throughput screening system to guage single nucleotide polymorphisms of...

A strong bacterial high-throughput screening system to guage single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase within the context of alkaptonuria


  • Fukao, T. & Nakamura, Okay. Advances in inborn errors of metabolism. J. Hum. Genet. 64, 65 (2019).

    PubMed 

    Google Scholar
     

  • Boyer, S. W., Barclay, L. J. & Burrage, L. C. Inherited metabolic problems: Facets of persistent dietary administration. Nutr. Clin. Pract. 30, 502 (2015).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Ranganath, L. R., Jarvis, J. C. & Gallagher, J. A. Current advances in administration of alkaptonuria (invited evaluation; greatest observe article). J. Clin. Pathol. 66, 367–373 (2013).

    CAS 
    PubMed 

    Google Scholar
     

  • Gallagher, J. A., Dillon, J. P., Sireau, N., Timmis, O. & Ranganath, L. R. Alkaptonuria: An instance of a ‘basic illness’-A uncommon illness with vital classes for extra widespread problems. Semin. Cell Dev. Biol. 52, 53–57 (2016).

    CAS 
    PubMed 

    Google Scholar
     

  • Saudubray, J.-M., van den Berghe, G. & Walter, J. H. Inborn metabolic illnesses analysis and remedy. Inborn Metabolic Ailments: Analysis and Therapy (Springer-Verlag Berlin Heidelberg, 2012). https://doi.org/10.1007/978-3-642-15720-2.

  • Suwannarat, P. et al. Use of nitisinone in sufferers with alkaptonuria. Metabolism 54, 719–728 (2005).

    CAS 
    PubMed 

    Google Scholar
     

  • Hughes, J. H. et al. Conditional focusing on in mice reveals that hepatic homogentisate 1,2-dioxygenase exercise is crucial in decreasing circulating homogentisic acid and for efficient remedy within the genetic illness alkaptonuria. Hum. Mol. Genet. 28, 3928–3939 (2019).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Neuckermans, J., Mertens, A., De Win, D., Schwaneberg, U. & De Kock, J. A strong bacterial assay for high-throughput screening of human 4-hydroxyphenylpyruvate dioxygenase inhibitors. Sci. Rep. 9, 1–11 (2019).

    CAS 

    Google Scholar
     

  • Lock, E., Ranganath, L. R. & Timmis, O. The position of nitisinone in tyrosine pathway problems. Curr. Rheumatol. Rep. 16, 1–8 (2014).

    CAS 

    Google Scholar
     

  • Ranganath, L. R. et al. Suitability of nitisinone In alkaptonuria 1 (SONIA 1): A world, multicentre, randomised, open-label, no-treatment managed, parallel-group, dose-response examine to research the impact of as soon as day by day nitisinone on 24-h urinary homogentisic acid excretion in sufferers with alkaptonuria after 4 weeks of remedy. Ann. Rheum. Dis. 75, 362–367 (2016).

    CAS 
    PubMed 

    Google Scholar
     

  • Nemethova, M. et al. Twelve novel HGD gene variants recognized in 99 alkaptonuria sufferers: Deal with ‘black bone illness’ in Italy. Eur. J. Hum. Genet. 24, 66–72 (2015).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Helliwell, T. R., Gallagher, J. A. & Ranganath, L. Alkaptonuria—A evaluation of surgical and post-mortem pathology. Histopathology 53, 503–512 (2008).

    CAS 
    PubMed 

    Google Scholar
     

  • Ranganath, L. R. et al. Nitisinone arrests ochronosis and reduces charge of development of alkaptonuria: Analysis of the impact of nitisinone in the UK nationwide alkaptonuria centre. Mol. Genet. Metab. 125, 127–134 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Zatkova, A., Ranganath, L. & Kadasi, L. Alkaptonuria: Present views. Appl. Clin. Genet. 13, 37–47 (2020).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Spiga, O. et al. A brand new built-in and interactive instrument relevant to inborn errors of metabolism: Utility to alkaptonuria. Comput. Biol. Med. 103, 1–7 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Spiga, O., Cicaloni, V., Bernini, A., Zatkova, A. & Santucci, A. ApreciseKUre: An strategy of precision drugs in a uncommon illness. BMC Med. Inform. Decis. Mak. 17, 42 (2017).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Zatkova, A. An replace on molecular genetics of Alkaptonuria (AKU). J. Inherit. Metab. Dis. 34, 1127–1136 (2011).

    PubMed 

    Google Scholar
     

  • Al-Sbou, M., Mwafi, N. & Lubad, M. A. Identification of forty circumstances with alkaptonuria in a single village in Jordan. Rheumatol. Int. 32, 3737–3740 (2012).

    PubMed 

    Google Scholar
     

  • Al-sbou, M. Novel mutations within the homogentisate 1,2 dioxygenase gene recognized in Jordanian sufferers with alkaptonuria. Rheumatol. Int. 32, 1741–1746 (2011).

    PubMed 

    Google Scholar
     

  • Al-Sbou, M. & Mwafi, N. 9 circumstances of alkaptonuria in a single household in southern Jordan. Rheumatol. Int. 32, 621–625 (2012).

    PubMed 

    Google Scholar
     

  • Sakthivel, S. et al. Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with vital founder impact and excessive prevalence. Ann. Hum. Genet. 78, 155–164 (2014).

    CAS 
    PubMed 

    Google Scholar
     

  • Zatková, A. et al. Excessive frequency of alkaptonuria in Slovakia: Proof for the looks of a number of mutations in HGO involving totally different mutational scorching spots. Am. J. Hum. Genet. 67, 1333 (2000).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Srsen, S. & Varga, F. Screening for alkaptonuria within the new child in Slovakia. Lancet 2, 576 (1978).

    CAS 
    PubMed 

    Google Scholar
     

  • Ranganath, L. R. et al. Efficacy and security of once-daily nitisinone for sufferers with alkaptonuria (SONIA 2): A world, multicentre, open-label, randomised managed trial. Lancet Diabetes Endocrinol. 8, 762–772 (2020).

    CAS 
    PubMed 

    Google Scholar
     

  • Ascher, D. B. et al. Homogentisate 1,2-dioxygenase (HGD) gene variants, their evaluation and genotype–phenotype correlations within the largest cohort of sufferers with AKU. Eur. J. Hum. Genet. 27, 888–902 (2019).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • White, A. & Tchan, C. M. Nitisinone-induced keratopathy in alkaptonuria: A difficult analysis regardless of medical suspicion. JIMD Rep. 40, 7–9 (2018).

    PubMed 

    Google Scholar
     

  • Khedr, M. et al. Asymptomatic corneal keratopathy secondary to hypertyrosinaemia following low dose nitisinone and a literature evaluation of tyrosine keratopathy in alkaptonuria. JIMD Rep. 40, 31–37 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Hughes, J. H. et al. Dietary restriction of tyrosine and phenylalanine lowers tyrosinemia related to nitisinone remedy of alkaptonuria. J. Inherit. Metab. Dis. 43, 259–268 (2020).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Thimm, E. et al. Neurocognitive end result in sufferers with hypertyrosinemia sort i after long-term remedy with NTBC. J. Inherit. Metab. Dis. 35, 263–268 (2012).

    CAS 
    PubMed 

    Google Scholar
     

  • Khedr, M. et al. Nitisinone causes acquired tyrosinosis in alkaptonuria. J. Inherit. Metab. Dis. 43, 1014–1023 (2020).

    CAS 
    PubMed 

    Google Scholar
     

  • Davison, A. S. et al. Evaluation of the impact of as soon as day by day nitisinone remedy on 24-h urinary metadrenalines and 5-hydroxyindole acetic acid excretion in sufferers with alkaptonuria after 4 weeks of remedy. JIMD Rep. 41, 1–10 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Garrod, A. E. The incidence of alkaptonuria: A examine in chemical individuality. Yale J. Biol. Med. 75, 221–231 (2002).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • La Du, B. N., Zannoni, V. G., Laster, L. & Seegmiller, J. E. The character of the defect in tyrosine metabolism in alcaptonuria. J. Biol. Chem. 230, 251–260 (1958).


    Google Scholar
     

  • Fernândez-Canon, J. M. et al. The molecular foundation of alkaptonuria. Nat. Genet. 14, 19–24 (1996).

    PubMed 

    Google Scholar
     

  • Bernini, A. et al. Towards a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Utility to the homogentisate 1,2-dioxygenase mutants on the base of uncommon illness alkaptonuria. Comput. Biol. Chem. 70, 133–141 (2017).

    CAS 
    PubMed 

    Google Scholar
     

  • HGD homepage–HGD mutation database–Leiden open variation database. Out there at: http://hgddatabase.cvtisr.sk/residence.php?select_db=HGD. Accessed: nineteenth April 2022.

  • Karmakar, M. et al. HGDiscovery: A web-based instrument offering practical and phenotypic info on novel variants of homogentisate 1,2- dioxigenase. bioRxiv https://doi.org/10.1101/2021.04.26.441386 (2021).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Jia, B. & Jeon, C. O. Excessive-throughput recombinant protein expression in Escherichia coli: Present standing and future views. Open Biol. 6, 160–196 (2016).


    Google Scholar
     

  • Rosano, G. L. & Ceccarelli, E. A. Recombinant protein expression in Escherichia coli: Advances and challenges. Entrance. Microbiol. 5, 1–17 (2014).


    Google Scholar
     

  • Rodríguez, J. M. et al. Structural and practical evaluation of mutations in alkaptonuria. Hum. Mol. Genet. 9, 2341–2350 (2000).

    PubMed 

    Google Scholar
     

  • Matalonga, L., Gort, L. & Ribes, A. Small molecules as therapeutic brokers for inborn errors of metabolism. J. Inherit. Metab. Dis. 40, 177–193 (2017).

    CAS 
    PubMed 

    Google Scholar
     

  • Hou, Z. S., Ulloa-Aguirre, A. & Tao, Y. X. Pharmacoperone medication: focusing on misfolded proteins inflicting lysosomal storage-, ion channels-, and G protein-coupled receptors-associated conformational problems. Professional Rev. Clin. Pharmacol. 11, 611–624 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Aymami, J., Barril, X., Rodríguez-Pascau, L. & Martinell, M. Pharmacological chaperones for enzyme enhancement remedy in genetic illnesses. Pharm. Pat. Anal. 2, 109–124 (2013).

    CAS 
    PubMed 

    Google Scholar
     

  • Iversen, P. W. et al. Assay Steering Guide. HTS Assay Validation (Eli Lilly & Firm and the Nationwide Middle for Advancing Translational Sciences, 2004).

  • Tee, Okay. L. & Schwaneberg, U. A screening system for the directed evolution of epoxygenases: Significance of place 184 in P450 BM3 for stereoselective styrene epoxidation. Angew. Chemie Int. Ed. 45, 5380–5383 (2006).

    CAS 

    Google Scholar
     

  • Islam, S., Mate, D. M., Martínez, R., Jakob, F. & Schwaneberg, U. A strong protocol for directed aryl sulfotransferase evolution towards the carbohydrate constructing block GlcNAc. Biotechnol. Bioeng. 115, 1106–1115 (2018).

    CAS 
    PubMed 

    Google Scholar
     

  • Garrod, A. E. The croonian lectures on inborn errors of metabolism. Lancet 172, 1–7 (1908).


    Google Scholar
     

  • Amaya, A. A., Brzezinski, Okay. T., Farrington, N. & Moran, G. R. Kinetic evaluation of human homogentisate 1,2-dioxygenase. Arch. Biochem. Biophys. 421, 135–142 (2004).

    CAS 
    PubMed 

    Google Scholar
     

  • Birolo, G. et al. Protein stability perturbation contributes to the lack of operate in haploinsufficient genes. Entrance. Mol. Biosci. 8, 10 (2021).


    Google Scholar
     

  • Veldhuizen, E. J. A. et al. Regular-state kinetics and inhibition of anaerobically purified human homogentisate 1,2-dioxygenase. Biochem. J. 386, 305–314 (2005).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Lin, B. & Tao, Y. Complete-cell biocatalysts by design. Microb. Cell Truth. 16, 106 (2017).

    PubMed 
    PubMed Central 

    Google Scholar
     

  • Baneyx, F. Recombinant protein expression in Escherichia coli. Curr. Opin. Biotechnol. 10, 411–421 (1999).

    CAS 
    PubMed 

    Google Scholar
     

  • Schein, C. H. Manufacturing of soluble recombinant proteins in micro organism. Bio/Technol. 7, 1141–1149 (1989).

    CAS 

    Google Scholar
     

  • Feller, G., Le Bussy, O. & Gerday, C. Expression of psychrophilic genes in mesophilic hosts: Evaluation of the folding state of a recombinant α-amylase. Appl. Environ. Microbiol. 64, 1163 (1998).

    ADS 
    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Shaw, M. Okay. & Ingraham, J. L. Synthesis of macromolecules by Escherichia coli close to the minimal temperature for progress. J. Bacteriol. 94, 157–164 (1967).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Broeze, R. J., Solomon, C. J. & Pope, D. H. Results of low temperature on in vivo and in vitro protein synthesis in Escherichia coli and Pseudomonas fluorescens. J. Bacteriol. 134, 861 (1978).

    CAS 
    PubMed 
    PubMed Central 

    Google Scholar
     

  • Tissue expression of HGD—Abstract—The human protein atlas. Out there at: https://www.proteinatlas.org/ENSG00000113924-HGD/tissue. Accessed: tenth Might 2022

  • Pollak, M. R. et al. Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat. Genet. 5, 201–204 (1993).

    CAS 
    PubMed 

    Google Scholar
     

  • Janocha, S. et al. The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics 19, 5–8 (1994).

    CAS 
    PubMed 

    Google Scholar
     

  • Ng, P. C. & Henikoff, S. Predicting the results of amino acid substitutions on protein operate. Annu. Rev. Genomics Hum. Genet. 7, 61–80 (2006).

    CAS 
    PubMed 

    Google Scholar
     

  • Singh, A., Upadhyay, V., Upadhyay, A. Okay., Singh, S. M. & Panda, A. Okay. Protein restoration from inclusion our bodies of Escherichia coli utilizing delicate solubilization course of. Microb. Cell Truth. 14, 1–10 (2015).

    CAS 

    Google Scholar
     

  • Eiberle, M. Okay. & Jungbauer, A. Technical refolding of proteins: Do we’ve freedom to function?. Biotechnol. J. 5, 547–559 (2010).

    CAS 
    PubMed 

    Google Scholar
     

  • Mizutani, H. et al. REFOLDdb: A brand new and sustainable gateway to experimental protocols for protein refolding. BMC Struct. Biol. 17, 1–8 (2017).


    Google Scholar
     

  • Colleen, Okay. & Gage, M. J. Protein unfolding: Denaturant vs. Power. Biomedicines 9, 1395 (2021).


    Google Scholar
     

  • Chai, S. C., Goktug, A. N. & Chen, T. Drug Discovery and Improvement—From Molecules to Medication. Assay Validation in Excessive-throughput Screening—From Idea to Validation (InTech, 2015). https://doi.org/10.5772/59765

  • Zhang, J. H., Chung, T. D. Y. & Oldenburg, Okay. R. A easy statistical parameter to be used in analysis and validation of excessive throughput screening assays. J. Biomol. Display screen. 4, 67–73 (1999).

    CAS 
    PubMed 

    Google Scholar
     

  • RELATED ARTICLES

    LEAVE A REPLY

    Please enter your comment!
    Please enter your name here

    Most Popular

    Recent Comments