September 2024 Research Spotlight:

FOCUS ON MPS

The first edition of SPOTLIGHT highlights recent scientific publications on mucopolysaccharidoses (MPS). Authors who have been speakers at WORLDSymposium are noted in bold.

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• Capsular and retinaculum thickening in type II mucopolysaccharidosis: a novel MRI finding
  Sato VN, Moriwaki TL, do Amaral E Castro A, da Rocha Correa Fernandes A, Guimaraes JB, Bigger B.
  Skeletal Radiol. 2024 Jun;53(6):1211-1217. doi: 10.1007/s00256-023-04499-x. Epub 2023 Nov 6. PMID: 37930378
• A novel graphene oxide-based fluorescence method for detection of urine glycosaminoglycans
  Kösoğlu CB, Dede S, Karakuş E, Erdoğmuş A, Keskin B, Önal H.
  Biotechnol Appl Biochem. 2024 Jun;71(3):651-660. doi: 10.1002/bab.2565. Epub 2024 Mar 6. PMID: 38449083
• Mucopolysaccharidosis (MPS IIIA) mice have increased lung compliance and airway resistance, decreased diaphragm strength, and no change in alveolar structure
  Paget TL, Larcombe AN, Pinniger GJ, Tsioutsias I, Schneider JP, Parkinson-Lawrence EJ, Orgeig S.
  Am J Physiol Lung Cell Mol Physiol. 2024 Jun 1;326(6):L713-L726. doi: 10.1152/ajplung.00445.2022. Epub 2024 Mar 5. PMID: 38469649
• Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis
  Wongkittichote P, Cho SH, Miller A, King K, Herbst ZM, Ren Z, Gelb MH, Hong X.
  Clin Chem. 2024 Jun 3;70(6):865-877. doi: 10.1093/clinchem/hvae043. PMID: 38597162
• Novel human recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in a glyco-engineered Escherichia coli strain
  Pimentel-Vera LN, Rodríguez-López A, Espejo-Mojica AJ, Ramírez AM, Cardona C, Reyes LH, Tomatsu S, Jaroentomeechai T, DeLisa MP, Sánchez OF, Alméciga-Díaz CJ.
  Heliyon. 2024 Jun 8;10(12):e32555. doi: 10.1016/j.heliyon.2024.e32555. eCollection 2024 Jun 30. PMID: 38952373
• Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT)
  Navratna V, Kumar A, Rana JK, Mosalaganti S.
  bioRxiv [Preprint]. 2024 Jun 12:2023.10.23.563672. doi: 10.1101/2023.10.23.563672. PMID: 37961489
• Improved specificity and efficacy of base-editing therapies with hybrid guide RNAs
  Whittaker MN, Brooks DL, Quigley A, Jindal I, Said H, Qu P, Wang JZ, Ahrens-Nicklas RC, Musunuru K, Alameh MG, Peranteau WH, Wang X.
  bioRxiv [Preprint]. 2024 Jun 16:2024.04.22.590531. doi: 10.1101/2024.04.22.590531. PMID: 38712058
• Anakinra in Sanfilippo syndrome: a phase 1/2 trial
  Polgreen LE, Chen AH, Pak Y, Luzzi A, Morales Garval A, Acevedo J, Bitan G, Iacovino M, O’Neill C, Eisengart JB.
  Nat Med. 2024 Jun 21. doi: 10.1038/s41591-024-03079-3. Online ahead of print. PMID: 38907160
• Structural and mechanistic insights into a lysosomal membrane enzyme HGSNAT involved in Sanfilippo syndrome
  Zhao B, Cao Z, Zheng Y, Nguyen P, Bowen A, Edwards RH, Stroud RM, Zhou Y, Van Lookeren Campagne M, Li F.
  Nat Commun. 2024 Jun 25;15(1):5388. doi: 10.1038/s41467-024-49614-1. PMID: 38918376
• Genetic features of patients with MPS type IIIB: Description of five pathogenic gene variations
  Nasir Shalal M, Aminzadeh M, Saberi A, Azizi Malmiri R, Aminzadeh R, Ghandil P.
  Gene. 2024 Jun 30;913:148354. doi: 10.1016/j.gene.2024.148354. Epub 2024 Mar 15. PMID: 38492611
• Evaluation of tendon and ligament microstructure and mechanical properties in a canine model of mucopolysaccharidosis I
  Lau YK, Iyer K, Shetye S, Friday CS, Dodge GR, Hast MW, Casal ML, Gawri R, Smith LJ.
  J Orthop Res. 2024 Jul;42(7):1409-1419. doi: 10.1002/jor.25813. Epub 2024 Feb 18. PMID: 38368531
• AAV gene replacement therapy for treating MPS IIIC: Facilitating bystander effects via EV-mRNA cargo
  Bobo TA, Robinson M, Tofade C, Sokolski-Papkov M, Nichols P, Vorobiov S, Fu H.
  J Extracell Vesicles. 2024 Jul;13(7):e12464. doi: 10.1002/jev2.12464. PMID: 38961538
• Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease
  Mandolfo O, Parker H, Aguado È, Ishikawa Learmonth Y, Liao AY, O’Leary C, Ellison S, Forte G, Taylor J, Wood S, Searle R, Holley RJ, Boutin H, Bigger BW.
  EMBO Mol Med. 2024 Jul;16(7):1579-1602. doi: 10.1038/s44321-024-00092-4. Epub 2024 Jun 18. PMID: 38890537
• Generation of a novel immunodeficient mouse model of Mucopolysaccharidosis type IIIA to test human stem cell-based therapies
  Mandolfo O, Parker H, Usman A, Learmonth YI, Holley RJ, MacDonald A, McKay T, Bigger B.
  Mol Genet Metab. 2024 Jul 9;143(1-2):108533. doi: 10.1016/j.ymgme.2024.108533. Online ahead of print. PMID: 39059269
• Enzymatic testing for mucopolysaccharidosis type I in Kuwaiti newborns: a preliminary study toward newborn screening
  Alsharhan H, Haider MZ, Qadoura B, Ayed M, Dhaunsi GS, Alkandari H.
  Front Pediatr. 2024 Jul 15;12:1376053. doi: 10.3389/fped.2024.1376053. eCollection 2024. PMID: 39077064
• Laronidase-loaded liposomes reach the brain and other hard-to-treat organs after noninvasive nasal administration
  Schuh RS, Franceschi EP, Brum BB, Fachel FNS, Poletto É, Vera LNP, Santos HS, Medeiros-Neves B, Monteagudo de Barros V, Helena da Rosa Paz A, Baldo G, Matte U, Giugliani R, Ferreira Teixeira H.
  Int J Pharm. 2024 Jul 20;660:124355. doi: 10.1016/j.ijpharm.2024.124355. Epub 2024 Jun 17. PMID: 38897489
• Long-term cardiovascular outcomes and mortality with enzyme replacement therapy in patients with mucopolysaccharidosis type II
  Kwak JH, Choi YJ, Kim S, Yang A.
  J Inherit Metab Dis. 2024 Jul 30. doi: 10.1002/jimd.12779. Online ahead of print. PMID: 39076005
• Community consensus for Heparan sulfate as a biomarker to support accelerated approval in Neuronopathic Mucopolysaccharidoses
  Muenzer J, Ho C, Lau H, Dant M, Fuller M, Boulos N, Dickson P, Ellinwood NM, Jones SA, Zanelli E, O’Neill C.
  Mol Genet Metab. 2024 Aug;142(4):108535. doi: 10.1016/j.ymgme.2024.108535. Epub 2024 Jul 10. PMID: 39018614
• Evaluation of neuroretina following i.v. or intra-CSF AAV9 gene replacement in mice with MPS IIIA, a childhood dementia
  Beard H, Winner L, Shoubridge A, Parkinson-Lawrence E, Lau AA, Mubarokah SN, Lance TR, King B, Scott W, Snel MF, Trim PJ, Hemsley KM.
  CNS Neurosci Ther. 2024 Aug;30(8):e14919. doi: 10.1111/cns.14919. PMID: 39123298
• Identification of Orthosteric and Allosteric Pharmacological Chaperones for Mucopolysaccharidosis Type IIIB
  Losada JC, Triana H, Vanegas E, Caro A, Rodríguez-López A, Espejo-Mojica AJ, Alméciga-Diaz CJ.
  Chembiochem. 2024 Aug 1;25(15):e202400081. doi: 10.1002/cbic.202400081. Epub 2024 Jul 16. PMID: 38830828
• Synergistic effects of resveratrol and enzyme replacement therapy in the Mucopolysaccharidosis type I
  Rintz E, Ziemian M, Kobus B, Gaffke L, Pierzynowska K, Wegrzyn G.
  Biochem Pharmacol. 2024 Aug 5;229:116467. doi: 10.1016/j.bcp.2024.116467. Online ahead of print. PMID: 39111602
• Structure of the human heparan-α-glucosaminide N-acetyltransferase (HGSNAT)
  Navratna V, Kumar A, Rana JK, Mosalaganti S.
  Elife. 2024 Aug 28;13:RP93510. doi: 10.7554/eLife.93510. PMID: 39196614