Zobrazeno 1 - 10
of 156
pro vyhledávání: '"Brian W Bigger"'
Systemic immune challenge exacerbates neurodegeneration in a model of neurological lysosomal disease
Autor:
Oriana Mandolfo, Helen Parker, Èlia Aguado, Yuko Ishikawa Learmonth, Ai Yin Liao, Claire O’Leary, Stuart Ellison, Gabriella Forte, Jessica Taylor, Shaun Wood, Rachel Searle, Rebecca J Holley, Hervé Boutin, Brian W Bigger
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 7, Pp 1579-1602 (2024)
Abstract Mucopolysaccharidosis type IIIA (MPS IIIA) is a rare paediatric lysosomal storage disorder, caused by the progressive accumulation of heparan sulphate, resulting in neurocognitive decline and behavioural abnormalities. Anecdotal reports from
Externí odkaz:
https://doaj.org/article/6b33c2341e654421a1e1e4301ad75310
Autor:
Oriana Mandolfo, Brian W Bigger
Publikováno v:
Neural Regeneration Research, Vol 18, Iss 9, Pp 1954-1955 (2023)
Externí odkaz:
https://doaj.org/article/4af34126b5c84caf86875bd3c96c31fd
Autor:
Helen Parker, Stuart M Ellison, Rebecca J Holley, Claire O'Leary, Aiyin Liao, Jalal Asadi, Emily Glover, Arunabha Ghosh, Simon Jones, Fiona L Wilkinson, David Brough, Emmanuel Pinteaux, Hervé Boutin, Brian W Bigger
Publikováno v:
EMBO Molecular Medicine, Vol 12, Iss 3, Pp 1-19 (2020)
Abstract Mucopolysaccharidosis IIIA is a neuronopathic lysosomal storage disease, characterised by heparan sulphate and other substrates accumulating in the brain. Patients develop behavioural disturbances and cognitive decline, a possible consequenc
Externí odkaz:
https://doaj.org/article/860e4ff997044c5bbd042e03d9871bf4
Brain‐targeted stem cell gene therapy corrects mucopolysaccharidosis type II via multiple mechanisms
Autor:
Hélène FE Gleitz, Ai Yin Liao, James R Cook, Samuel F Rowlston, Gabriella MA Forte, Zelpha D'Souza, Claire O'Leary, Rebecca J Holley, Brian W Bigger
Publikováno v:
EMBO Molecular Medicine, Vol 10, Iss 7, Pp 1-19 (2018)
Abstract The pediatric lysosomal storage disorder mucopolysaccharidosis type II is caused by mutations in IDS, resulting in accumulation of heparan and dermatan sulfate, causing severe neurodegeneration, skeletal disease, and cardiorespiratory diseas
Externí odkaz:
https://doaj.org/article/7b790fd6101949a990e17c2cd9b2efa6
Autor:
Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-15 (2017)
Abstract Background Mucopolysaccharidosis type III is a progressive, neurodegenerative lysosomal storage disorder for which there is currently no effective therapy. Though numerous potential therapies are in development, there are several challenges
Externí odkaz:
https://doaj.org/article/a5a8d3ebc74f47b9bd47ebf1d110b7ff
Autor:
Kenny Kwok-Hei Yu, Jessica T Taylor, Omar N Pathmanaban, Amir Saam Youshani, Deniz Beyit, Joanna Dutko-Gwozdz, Roderick Benson, Gareth Griffiths, Ian Peers, Peter Cueppens, Brian A Telfer, Kaye J Williams, Catherine McBain, Ian D Kamaly-Asl, Brian W Bigger
Publikováno v:
PLoS ONE, Vol 13, Iss 3, p e0193694 (2018)
Glioblastoma (GBM) is the most common primary brain malignancy in adults, yet survival outcomes remain poor. First line treatment is well established, however disease invariably recurs and improving prognosis is challenging. With the aim of personali
Externí odkaz:
https://doaj.org/article/c0919e2e2f8a4abbb588898382f3d76c
Publikováno v:
PLoS ONE, Vol 13, Iss 9, p e0203216 (2018)
INTRODUCTION:Mucopolysaccharide diseases are a group of lysosomal storage disorders caused by deficiencies of hydrolase enzymes, leading to pathological glycosaminoglycan accumulation. A number of mucopolysaccharidosis (MPS) types are characterised b
Externí odkaz:
https://doaj.org/article/78fbae1346184df691be2b03cc9c0a13
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172435 (2017)
Severe mucopolysaccharidosis type II (MPS II) is a progressive lysosomal storage disease caused by mutations in the IDS gene, leading to a deficiency in the iduronate-2-sulfatase enzyme that is involved in heparan sulphate and dermatan sulphate catab
Externí odkaz:
https://doaj.org/article/625c86f024d540f58ec6dc67c394cfe7
Autor:
Kia J Langford-Smith, Zara Sandiford, Alex Langford-Smith, Fiona L Wilkinson, Simon A Jones, J Ed Wraith, Robert F Wynn, Brian W Bigger
Publikováno v:
PLoS ONE, Vol 8, Iss 10, p e77632 (2013)
Non-myeloablative allogeneic haematopoietic stem cell transplantation (HSCT) is rarely achievable clinically, except where donor cells have selective advantages. Murine non-myeloablative conditioning regimens have limited clinical success, partly thr
Externí odkaz:
https://doaj.org/article/d4dd05eb1e8b4b4c9bd7225f5277a426
Autor:
Fiona L Wilkinson, Rebecca J Holley, Kia J Langford-Smith, Soumya Badrinath, Aiyin Liao, Alex Langford-Smith, Jonathan D Cooper, Simon A Jones, J Ed Wraith, Rob F Wynn, Catherine L R Merry, Brian W Bigger
Publikováno v:
PLoS ONE, Vol 7, Iss 4, p e35787 (2012)
Mucopolysaccharide diseases (MPS) are caused by deficiency of glycosaminoglycan (GAG) degrading enzymes, leading to GAG accumulation. Neurodegenerative MPS diseases exhibit cognitive decline, behavioural problems and shortened lifespan. We have chara
Externí odkaz:
https://doaj.org/article/795f2465ae6c40f69f556671f049448c