Zobrazeno 1 - 10
of 166
pro vyhledávání: '"Maria Fuller"'
Autor:
Murtaza S. Nagree, Jitka Rybova, Annie Kleynerman, Carissa J. Ahrenhoerster, Jennifer T. Saville, TianMeng Xu, Maxwell Bachochin, William M. McKillop, Michael W. Lawlor, Alexey V. Pshezhetsky, Olena Isaeva, Matthew D. Budde, Maria Fuller, Jeffrey A. Medin
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-20 (2023)
Abstract Mutations in ASAH1 have been linked to two allegedly distinct disorders: Farber disease (FD) and spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME). We have previously reported FD-like phenotypes in mice harboring a single
Externí odkaz:
https://doaj.org/article/04fa51e06c84484887be51ce53256008
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 36, Iss , Pp 100985- (2023)
Mucopolysaccharidosis type IIIA (MPS IIIA) is an inherited metabolic disorder caused by a lysosomal enzyme deficiency resulting in heparan sulphate (HS) accumulation and manifests with a progressive neurodegenerative phenotype. A naturally occurring
Externí odkaz:
https://doaj.org/article/031d46439576421e970d36243a42d3f8
Autor:
Shani Blumenreich, Tamar Nehushtan, Or B. Barav, Jennifer T. Saville, Tamir Dingjan, John Hardy, Maria Fuller, Anthony H. Futerman
Publikováno v:
npj Parkinson's Disease, Vol 8, Iss 1, Pp 1-11 (2022)
Abstract A number of genetic risk factors have been identified over the past decade for Parkinson’s Disease (PD), with variants in GBA prominent among them. GBA encodes the lysosomal enzyme that degrades the glycosphingolipid, glucosylceramide (Glc
Externí odkaz:
https://doaj.org/article/eef8903ef3da4d92af2541024a5a2e06
Autor:
Andrew Mallett, Phoebe Jane Kearey, Anne Cameron, Helen G. Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Louise Stark, Maria Fuller, Zaimin Wang, Wendy E. Hoy
Publikováno v:
BMC Nephrology, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Prevalence of Fabry disease amongst Chronic Kidney Disease (CKD) patients on haemodialysis has been shown to be approximately 0.2%. Methods We undertook a cross-sectional study employing a cascade screening strategy for Fabry Dise
Externí odkaz:
https://doaj.org/article/b21287a68cd94665ab11d9d31d522dd0
Autor:
Maria Fuller, David Ketteridge
Publikováno v:
JIMD Reports, Vol 60, Iss 1, Pp 10-14 (2021)
Abstract Mucopolysaccharidosis type II (MPS II) is a multi‐systemic disorder arising due to pathogenic variants in the gene located on chromosome Xq28 encoding the lysosomal enzyme, iduronate 2‐sulfatase (IDS). The broad clinical heterogeneity of
Externí odkaz:
https://doaj.org/article/b371d7866d7b47219ae3aeb7473698ce
Autor:
William M. Hague, Leonie Callaway, Jennifer Chambers, Lucy Chappell, Suzette Coat, Jiska de Haan-Jebbink, Marloes Dekker, Peter Dixon, Jodie Dodd, Maria Fuller, Sanne Gordijn, Dorothy Graham, Oskari Heikinheimo, Annemarie Hennessy, Risto Kaaja, Teck Yee Khong, Laura Lampio, Jennie Louise, Angela Makris, Corey Markus, Hanns-Ulrich Marschall, Philippa Middleton, Ben W. Mol, Jonathan Morris, John P. Newnham, Caroline Ovadia, Michael Peek, Antonia Shand, Michael Stark, Jim Thornton, Susanna Timonen, Susan Walker, David Warrilow, Catherine Williamson
Publikováno v:
BMC Pregnancy and Childbirth, Vol 21, Iss 1, Pp 1-14 (2021)
Abstract Background Severe early onset (less than 34 weeks gestation) intrahepatic cholestasis of pregnancy (ICP) affects 0.1% of pregnant women in Australia and is associated with a 3-fold increased risk of stillbirth, fetal hypoxia and compromise,
Externí odkaz:
https://doaj.org/article/8a92114777df44d2a59f24c463bf44c6
Autor:
Murtaza S Nagree, Tania C Felizardo, Mary L Faber, Jitka Rybova, C Anthony Rupar, S Ronan Foley, Maria Fuller, Daniel H Fowler, Jeffrey A Medin
Publikováno v:
EMBO Molecular Medicine, Vol 14, Iss 4, Pp n/a-n/a (2022)
Abstract T cells are the current choice for many cell therapy applications. They are relatively easy to access, expand in culture, and genetically modify. Rapamycin‐conditioning ex vivo reprograms T cells, increasing their memory properties and cap
Externí odkaz:
https://doaj.org/article/0079c95dea544963be14b09273e298e6
Autor:
Sharon J Chin, Maria Fuller
Publikováno v:
The Lancet Regional Health. Western Pacific, Vol 19, Iss , Pp 100344- (2022)
Summary: Background: Lysosomal storage disorders (LSD) are a family of genetic diseases that have a devastating impact on the patient and family with a concomitant health burden. Although considered rare disorders, improved diagnostic capabilities, n
Externí odkaz:
https://doaj.org/article/8145a011fc9f4ed58ce496d3560be901
Autor:
Sharon J. Chin, Jennifer T. Saville, Belinda K. McDermott, Andreas Zankl, Janice M. Fletcher, Maria Fuller
Publikováno v:
JIMD Reports, Vol 55, Iss 1, Pp 68-74 (2020)
Abstract Mucopolysaccharidosis type IVA (MPS IVA) is an inborn error of glycosaminoglycan (GAG) catabolism characterized by a deficiency of the lysosomal enzyme, N‐acetylgalactosamine 6‐sulphatase (GALNS). Consequently, partially degraded GAG, ch
Externí odkaz:
https://doaj.org/article/f459ecb7de324ec7934bca6e5361d25f
Autor:
Andrew Mallett, Phoebe Kearey, Anne Cameron, Helen Healy, Charles Denaro, Mark Thomas, Vincent W. Lee, Samantha Stark, Maria Fuller, Wendy E. Hoy
Publikováno v:
BMC Nephrology, Vol 21, Iss 1, Pp 1-12 (2020)
Abstract Background Fabry disease (FD) is a rare, lysosomal storage disorder caused by the absence or deficiency of the enzyme alpha-galactosidase A (α-Gal A) that leads to the abnormal accumulation of the lipid globotriaosylceramide (GB3) in a vari
Externí odkaz:
https://doaj.org/article/ee4a1292aca845d78dd532bbd5cbc616