Zobrazeno 1 - 10
of 26
pro vyhledávání: '"Allison C. Crawley"'
Autor:
Allison C. Crawley, Neil Marshall, Helen Beard, Sofia Hassiotis, Vicki Walsh, Barbara King, Nicola Hucker, Maria Fuller, Robert D. Jolly, John J. Hopwood, Kim M. Hemsley
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 2, Pp 422-434 (2011)
There is no treatment for the progressive neurodegenerative lysosomal storage disorder mucopolysaccharidosis type IIIA (MPS IIIA), which occurs due to a deficiency of functional N-sulfoglucosamine sulfohydrolase (SGSH), with subsequent accumulation o
Externí odkaz:
https://doaj.org/article/5ecb4e4f030a40c99337b7dd57f5923f
Autor:
Sofia Hassiotis, Helen Beard, John J. Hopwood, Robert D. Jolly, Barbara King, Allison C. Crawley, Maria Fuller, Kim M. Hemsley, Neil R. Marshall, Vicki Walsh, Nicola Hucker
Publikováno v:
Neurobiology of Disease, Vol 43, Iss 2, Pp 422-434 (2011)
There is no treatment for the progressive neurodegenerative lysosomal storage disorder mucopolysaccharidosis type IIIA (MPS IIIA), which occurs due to a deficiency of functional N-sulfoglucosamine sulfohydrolase (SGSH), with subsequent accumulation o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::698eb2d723a27c79c2f29923edcd4d7d
http://www.sciencedirect.com/science/article/pii/S0969996111001318
http://www.sciencedirect.com/science/article/pii/S0969996111001318
Publikováno v:
Behavioural Brain Research. 191:130-136
Mucopolysaccharidosis (MPS) IIIA, or Sanfilippo syndrome, is a lysosomal storage disorder characterized by severe and progressive neuropathology. Following an asymptomatic period, patients may present with sleep disturbances, cognitive decline, aggre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbdc67e829a69856612347de534fb7f4
https://doi.org/10.1016/j.bbr.2008.03.024
https://doi.org/10.1016/j.bbr.2008.03.024
Autor:
Allison C. Crawley, Steven U. Walkley
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 66:687-697
The lysosomal storage disease alpha-mannosidosis is due to absence or defective function of lysosomal alpha-mannosidase, resulting in primary storage of undegraded mannose-rich oligosaccharides. Disease has been described in humans, cattle, cats, mic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab2b71a0827b1a9f54ea71daae405746
https://doi.org/10.1097/nen.0b013e31812503b6
https://doi.org/10.1097/nen.0b013e31812503b6
Publikováno v:
Molecular Genetics and Metabolism. 85:203-212
Alpha-mannosidosis is a lysosomal storage disorder characterised by the lysosomal accumulation of mannose-containing oligosaccharides and a range of pathological consequences, caused by a deficiency of the lysosomal enzyme alpha-mannosidase. One of t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8ecec3504619e32da40eb8fccc26b78
https://doi.org/10.1016/j.ymgme.2005.03.005
https://doi.org/10.1016/j.ymgme.2005.03.005
Publikováno v:
Pediatric Research. 55:585-591
Mucopolysaccharidosis type VI is an inherited disorder of glycosaminoglycan metabolism characterized by organomegaly, corneal clouding, and skeletal dysplasia. Recent developments in the use of tandem mass spectrometry to measure sulfated mono- and d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0bf40e8f05144247df9c920c4ea470c
https://doi.org/10.1203/01.pdr.0000113789.30640.5c
https://doi.org/10.1203/01.pdr.0000113789.30640.5c
Publikováno v:
Molecular Genetics and Metabolism. 78:163-174
This study evaluates the immunological response following weekly 2h infusions of recombinant human N-acetylgalactosamine 4-sulfatase (rh4S) in Mucopolysaccharidosis VI (MPS VI) cats. The results of three trials (Trial "A": 9 month duration with onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c7741d82cb1054d88276fbba3264128
https://doi.org/10.1016/s1096-7192(03)00007-6
https://doi.org/10.1016/s1096-7192(03)00007-6
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1453:284-296
Fibroblast-mediated ex vivo gene therapy was evaluated in the N-acetylgalactosamine 4-sulfatase (4S) deficient mucopolysaccharidosis type VI (MPS VI) cat. Skin biopsies were obtained at birth from severely affected MPS VI kittens and used to initiate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::038e558e6f5d67fab55030629e781bbf
https://doi.org/10.1016/s0925-4439(98)00112-4
https://doi.org/10.1016/s0925-4439(98)00112-4
Publikováno v:
Journal of Biological Chemistry. 273:13421-13429
The missense mutation, L476P, in theN-acetylgalactosamine 4-sulfatase (4S) gene, has previously been shown to be associated with a severe feline mucopolysaccharidosis type VI (MPS VI) phenotype. The present study describes a second mutation, D520N, i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd894ab3807e4a23e396e9ba540e682c
https://doi.org/10.1074/jbc.273.22.13421
https://doi.org/10.1074/jbc.273.22.13421
Publikováno v:
Journal of Clinical Investigation. 101:109-119
Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease caused by a deficiency of N-acetylgalactosamine-4-sulfatase (4S). A feline MPS VI model used to demonstrate efficacy of enzyme replacement therapy is due to the homozygous presence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1ba6041b0dd7917e075c170d806faf6
https://doi.org/10.1172/jci935
https://doi.org/10.1172/jci935