Zobrazeno 1 - 10
of 71
pro vyhledávání: '"T, Saville"'
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
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:
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:
Rebecca J. Lehmann, Lachlan A. Jolly, Brett V. Johnson, Megan S. Lord, Ha Na Kim, Jennifer T. Saville, Maria Fuller, Sharon Byers, Ainslie L.K. Derrick-Roberts
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100811- (2021)
Mucopolysaccharidosis type IIIA (MPS IIIA) is characterised by a progressive neurological decline leading to early death. It is caused by bi-allelic loss-of-function mutations in SGSH encoding sulphamidase, a lysosomal enzyme required for heparan sul
Externí odkaz:
https://doaj.org/article/af43741fe8bf40afb6575ab48eb56474
Autor:
Sarah E. Hancock, Ramesh Ailuri, David L. Marshall, SimonH.J. Brown, Jennifer T. Saville, Venkateswara R. Narreddula, Nathan R. Boase, BerwyckL.J. Poad, Adam J. Trevitt, MarkD.P. Willcox, Michael J. Kelso, Todd W. Mitchell, Stephen J. Blanksby
Publikováno v:
Journal of Lipid Research, Vol 59, Iss 8, Pp 1510-1518 (2018)
The (O-acyl)-ω-hydroxy FAs (OAHFAs) comprise an unusual lipid subclass present in the skin, vernix caseosa, and meibomian gland secretions. Although they are structurally related to the general class of FA esters of hydroxy FAs (FAHFAs), the ultra-l
Externí odkaz:
https://doaj.org/article/75e7c317588d447f82e39acf63c176b5
Autor:
Jennifer T. Saville, Maria Fuller
Publikováno v:
Metabolites, Vol 11, Iss 7, p 446 (2021)
Following clinical indications, the laboratory diagnosis of the inherited metabolic myopathy, Pompe disease (PD), typically begins with demonstrating a reduction in acid alpha-glucosidase (GAA), the enzyme required for lysosomal glycogen degradation.
Externí odkaz:
https://doaj.org/article/dcb4c342236c421494a8c36c3eed727b
Autor:
Andreas Zankl, Belinda K. McDermott, Jennifer T. Saville, Janice M. Fletcher, Sharon J. Chin, Maria Fuller
Publikováno v:
JIMD Reports
JIMD Reports, Vol 55, Iss 1, Pp 68-74 (2020)
JIMD Reports, Vol 55, Iss 1, Pp 68-74 (2020)
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, chondroitin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ba4d7279ab3c7987d35eb2d1ec5b2bd
https://doi.org/10.1002/jmd2.12132
https://doi.org/10.1002/jmd2.12132
Autor:
Gabrielle R. Phillips, Jennifer T. Saville, Sarah E. Hancock, Simon H. J. Brown, Andrew M. Jenner, Catriona McLean, Maria Fuller, Kelly A. Newell, Todd W. Mitchell
Publikováno v:
Brain Communications. 4
Huntington’s disease is a devastating neurodegenerative disorder that onsets in late adulthood as progressive and terminal cognitive, psychiatric and motor deficits. The disease is genetic, triggered by a CAG repeat (polyQ) expansion mutation in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1bbc6293db967b2ee36d76b79464043
https://doi.org/10.1093/braincomms/fcab303
https://doi.org/10.1093/braincomms/fcab303
Autor:
Jennifer T. Saville, Ainslie L. K. Derrick-Roberts, Brett V. Johnson, Megan S. Lord, Maria Fuller, Ha Na Kim, Lachlan A. Jolly, Rebecca J. Lehmann, Sharon Byers
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss, Pp 100811-(2021)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Mucopolysaccharidosis type IIIA (MPS IIIA) is characterised by a progressive neurological decline leading to early death. It is caused by bi-allelic loss-of-function mutations in SGSH encoding sulphamidase, a lysosomal enzyme required for heparan sul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8319b125d94dfde1df85ea9122f3ab4d
http://www.sciencedirect.com/science/article/pii/S2214426921001063
http://www.sciencedirect.com/science/article/pii/S2214426921001063
Autor:
Maria Fuller, Jennifer T. Saville
Publikováno v:
Metabolites
Volume 11
Issue 7
Metabolites, Vol 11, Iss 446, p 446 (2021)
Volume 11
Issue 7
Metabolites, Vol 11, Iss 446, p 446 (2021)
Following clinical indications, the laboratory diagnosis of the inherited metabolic myopathy, Pompe disease (PD), typically begins with demonstrating a reduction in acid alpha-glucosidase (GAA), the enzyme required for lysosomal glycogen degradation.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d8d2b31638572fb0095fa7497381ca2