Article
Cell Biology
Tamara L. Paget, Emma J. Parkinson-Lawrence, Paul J. Trim, Chiara Autilio, Madhuriben H. Panchal, Grielof Koster, Mercedes Echaide, Marten F. Snel, Anthony D. Postle, Janna L. Morrison, Jesus Perez-Gil, Sandra Orgeig
Summary: In MPS IIIA patients, alterations in biochemical and biophysical properties of alveolar surfactant in lung tissue and BALF indicate potential impairment in lung function.
Article
Chemistry, Applied
Noemi Veraldi, Isabelle Dentand Quadri, Yohan van de Looij, Laura Malaguti Modernell, Corinne Sinquin, Agata Zykwinska, Benjamin B. Tournier, Fabien Dalonneau, Honglian Li, Jin-Ping Li, Philippe Millet, Romain Vives, Sylvia Colliec-Jouault, Ariane de Agostini, Eduardo Farias Sanches, Stephane V. Sizonenko
Summary: Derivative A5_3, derived from marine polysaccharides, inhibits intracellular HS accumulation and shows protective effects on brain metabolism and microstructure in MPSIIIA mice.
CARBOHYDRATE POLYMERS
(2023)
Article
Biochemistry & Molecular Biology
Jenna Magat, Samantha Jones, Brian Baridon, Vishal Agrawal, Hio Wong, Alexander Giaramita, Linley Mangini, Britta Handyside, Catherine Vitelli, Monica Parker, Natasha Yeung, Yu Zhou, Erno Pungor, Ilya Slabodkin, Olivia Gorostiza, Allora Aguilera, Melanie J. Lo, Saida Alcozie, Terri M. Christianson, Pascale M. N. Tiger, Jon Vincelette, Sylvia Fong, Geuncheol Gil, Chuck Hague, Roger Lawrence, Daniel J. Wendt, Jonathan H. Lebowitz, Stuart Bunting, Sherry Bullens, Brett E. Crawford, Sushmita M. Roy, Josh C. Woloszynek
Summary: This study demonstrates the efficacy of rhSGSH in treating MPS IIIA through intracerebroventricular delivery. RhSGSH can completely normalize lysosomal HS storage and markers of neuroimmune response.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Article
Multidisciplinary Sciences
Kari Pollock, Sabrina Noritake, Denise M. Imai, Gabrielle Pastenkos, Marykate Olson, Whitney Cary, Sheng Yang, Fernando A. Fierro, Jeannine White, Justin Graham, Heather Dahlenburg, Karl Johe, Jan A. Nolta
Summary: A novel immune deficient MPSIIIA mouse model (MPSIIIA-TKO) was created in this study, which exhibits the MPSIIIA disease phenotype and lacks T cells, B cells, and NK cells. This model has the potential to test human cellular therapies in animal models.
SCIENTIFIC REPORTS
(2023)
Article
Biochemistry & Molecular Biology
Catarina Marques, Juliana Pocas, Catarina Gomes, Isabel Faria-Ramos, Celso A. Reis, Romain R. Vives, Ana Magalhaes
Summary: Heparan sulfate (HS) proteoglycans play important roles in cancer cell behavior and tumor microenvironment properties. This study reveals the regulatory roles of two specific glycosyltransferases, EXTL2 and EXTL3, in the biosynthesis of HS and chondroitin sulfate (CS) and their impact on gastric cancer cells.
JOURNAL OF BIOLOGICAL CHEMISTRY
(2022)
Review
Biochemistry & Molecular Biology
Anthony J. Hayes, James Melrose
Summary: The recent discovery of nuclear and perinuclear perlecan in annulus fibrosus and nucleus pulposus cells and its potential roles in stabilizing the nucleus through interactions with nuclear envelope components raises the possibility of regulating gene expression. The presence of perlecan in tumor cell nuclei suggests its involvement in disease progression, while this review aims to explore its roles in both normal and malignant cells.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biotechnology & Applied Microbiology
Antonella Capuozzo, Sandro Montefusco, Vincenzo Cacace, Martina Sofia, Alessandra Esposito, Gennaro Napolitano, Eduardo Nusco, Elena Polishchuk, Maria Teresa Pizzo, Maria De Risi, Elvira De Leonibus, Nicolina Cristina Sorrentino, Diego Luis Medina
Summary: Through screening clinically approved drugs in MPS-IIIA cells, we found that fluoxetine can enhance lysosomal and autophagic functions, and improve MPS-IIIA pathology and cognitive deterioration by clearing heparan sulfate. We repurposed fluoxetine for potential MPS-IIIA therapeutics.
Review
Endocrinology & Metabolism
Berna Seker Yilmaz, James Davison, Simon A. Jones, Julien Baruteau
Summary: MPS III, a neurodegenerative disease, currently lacks disease-modifying therapy, but multiple curative therapies have been developed, emphasizing the importance of early treatment before extensive neuronal loss occurs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2021)
Article
Biochemistry & Molecular Biology
Marissa L. Maciej-Hulme, Eamon Dubaissi, Chun Shao, Joseph Zaia, Enrique Amaya, Sabine L. Flitsch, Catherine L. R. Merry
Summary: The study presents a simple method for selective inhibition of HS biosynthesis using a small molecule compound Ac(4)GalNAz. This inhibition is transient and dose-dependent, successfully reducing HS expression without affecting CS production. The utility of this method is demonstrated in both cell culture and whole organisms, proving its potential as a tool for HS inhibition in biological systems.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Genetics & Heredity
Francesca Maccari, Laura Rigon, Veronica Mantovani, Fabio Galeotti, Marika Salvalaio, Francesca D'Avanzo, Alessandra Zanetti, Federica Capitani, Orazio Gabrielli, Rosella Tomanin, Nicola Volpi
Summary: This study examined the changes in plasma and urinary GAGs in Ids knock-out (Ids-ko) mice over a 24-week follow-up, with and without enzyme replacement therapy (ERT). Untreated Ids-ko mice showed increased levels of GAGs, while ERT was associated with a decrease in heparan-sulfate (HS) and partially in chondroitin-sulfate (CS) and dermatan-sulfate (DS). Various structural parameters were altered in untreated mice and partially restored after ERT, although not reaching physiological levels.
JOURNAL OF MOLECULAR MEDICINE-JMM
(2022)
Article
Endocrinology & Metabolism
Paul Harmatz, Joseph Muenzer, Fatih Ezgu, Per Dalen, Gunilla Huledal, Daniel Lindqvist, Stefan Svensson Gelius, Margareta Wiken, Kristin Onnestam, Anders Broijersen
Summary: This study evaluated the long-term safety, tolerability, pharmacokinetics/pharmacodynamics, and clinical efficacy of SOBI003 in MPS IIIA patients. Results showed that SOBI003 was well tolerated, crossed the BBB, and had pharmacological activity on HS in CSF. However, it did not result in a clear overall clinical effect. This study provides a potential treatment option for MPS IIIA.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Cell Biology
Ana A. Jones, Elvira Diamantopoulou, Sarah Baxendale, Tanya T. Whitfield
Summary: Epithelial morphogenesis of the zebrafish inner ear depends on the production and localization of glycosaminoglycans, particularly hyaluronan and proteoglycans, which play critical roles in epithelial projection outgrowth and otolith development.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Chemistry, Medicinal
John Hogwood, Elaine Gray, Barbara Mulloy
Summary: Sepsis is a life-threatening hyperreaction to infection that causes damage to host tissues and organs. Heparan sulphate (HS), a component of the cell surface glycocalyx, plays a role in sepsis by modulating pathogen interactions and neutrophil recruitment. Heparin, a structural relative of HS, can influence sepsis-related processes due to its similarity to HS, but its anticoagulant activity limits its use. Developing heparin derivatives and mimetic compounds with reduced anticoagulant activity may be a potential therapeutic approach for sepsis.
Article
Immunology
Chee Wah Tan, Akshamal M. Gamage, Wee Chee Yap, Leon Jia Wei Tang, Yuan Sun, Xing-Lou Yang, Alyssa Pyke, Kaw Bing Chua, Lin-Fa Wang
Summary: This study discovered that pteropine orthoreoviruses (PRVs) may use heparan sulphate (HS), a receptor widely expressed in all cell types, as an attachment receptor for entering host cells due to its broad tissue tropism. The hypothesis was supported by experiments on multiple genetically distinct PRV species. Moreover, it was found that HS plays a crucial role in the early phase of PRV infection.
EMERGING MICROBES & INFECTIONS
(2023)
Article
Cell Biology
Tayler F. L. Wishart, Frank J. Lovicu
Summary: Heparan sulphate proteoglycans (HSPGs) are composed of a core protein and sulphated HS-glycosaminoglycan (GAG) chains. These HS-GAG chains bind to and regulate the activity of HS-binding proteins, including growth factors, playing a crucial role in cellular processes during lens development. The different localisation of HSPG core proteins suggests their specialized roles in lens induction and morphogenesis.
Article
Dentistry, Oral Surgery & Medicine
M. Altaii, X. Kaidonis, S. Koblar, P. Cathro, L. Richards
AUSTRALIAN DENTAL JOURNAL
(2017)
Article
Developmental Biology
Wenru Pan, Karlea L. Kremer, Xenia Kaidonis, Victoria E. Ludlow, Mary-Louise Rogers, Jianling Xie, Christopher G. Proud, Simon A. Koblar
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE
(2016)
Article
Endocrinology & Metabolism
Xenia Kaidonis, Sharon Byers, Enzo Ranieri, Peter Sharp, Janice Fletcher, Ainslie Derrick-Roberts
MOLECULAR GENETICS AND METABOLISM
(2016)
Article
Biochemistry & Molecular Biology
Jennifer T. Saville, Hong Ngoc Thai, Rebecca J. Lehmann, Ainslie L. K. Derrick-Roberts, Maria Fuller
JOURNAL OF NEUROCHEMISTRY
(2017)
Article
Endocrinology & Metabolism
Zhirui Jiang, Ainslie L. K. Derrick-Roberts, Matilda R. Jackson, Charne Rossouw, Carmen E. Pyragius, Cory Xian, Janice Fletcher, Sharon Byers
MOLECULAR GENETICS AND METABOLISM
(2018)
Article
Endocrinology & Metabolism
Zhirui Jiang, Ainslie L. K. Derrick-Roberts, Clare Reichstein, Sharon Byers
Article
Endocrinology & Metabolism
Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R. Jackson, Wan Chin Liaw, XiaoDan Ding, Chun Ong, Enzo Ranieri, Peter Sharp, Janice Fletcher, Sharon Byers
MOLECULAR GENETICS AND METABOLISM
(2020)
Article
Biotechnology & Applied Microbiology
Jennifer T. Saville, Ainslie L. K. Derrick-Roberts, Chantelle McIntyre, Maria Fuller
Summary: The study shows that gene therapy for MPS IIIA in mice can alleviate some symptoms, but cognitive impairments persist in older individuals, likely due to downstream consequences of heparan sulfate affecting neurological functions.
HUMAN GENE THERAPY
(2021)
Article
Genetics & Heredity
Zhirui Jiang, Ainslie L. K. Derrick-Roberts, Sharon Byers
MOLECULAR GENETICS AND METABOLISM REPORTS
(2020)
Correction
Endocrinology & Metabolism
Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R. Jackson, Wan Chin Liaw, XiaoDan Ding, Chun Ong, Enzo Ranieri, Peter Sharp, Janice Fletcher, Sharon Byers
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Genetics & Heredity
Rebecca J. Lehmann, Lachlan A. Jolly, Brett Johnson, Megan S. Lord, Ha Na Kim, Jennifer T. Saville, Maria Fuller, Sharon Byers, Ainslie L. K. Derrick-Roberts
Summary: MPS IIIA is a genetic disorder that leads to progressive neurological decline due to bi-allelic loss-of-function mutations in a specific gene encoding an enzyme. Accumulation of HS GAG in MPS IIIA patients affects cell proliferation and neurogenesis, indicating potential mechanisms underlying the disease progression.
MOLECULAR GENETICS AND METABOLISM REPORTS
(2021)
Letter
Genetics & Heredity
Ainslie L. K. Derrick-Roberts
MOLECULAR GENETICS AND METABOLISM REPORTS
(2022)
Article
Nanoscience & Nanotechnology
Siti Musliha Ajmal Mokhtar, Ainslie L. K. Derrick-Roberts, Drew R. Evans, Xanthe L. Strudwick
Summary: Transdermal monitoring and drug delivery have attracted attention due to the development of minimally invasive microneedle (MN) devices. Recent research has focused on incorporating conducting polymers (CPs) onto MNs, but the biocompatibility of CPs in skin and the effects of electrical biasing on cells have not been extensively studied. This study found that cells cultured at a low seeding density exhibited lower viability and proliferation after exposure to electrochemically biased MNs comprising PEDOT polymers.
ACS APPLIED BIO MATERIALS
(2023)
Review
Cell & Tissue Engineering
Siiri E. Iismaa, Xenia Kaidonis, Amy M. Nicks, Nikolay Bogush, Kazu Kikuchi, Nawazish Naqvi, Richard P. Harvey, Ahsan Husain, Robert M. Graham
NPJ REGENERATIVE MEDICINE
(2018)