Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Ainslie L.K. Derrick-Roberts"'
Autor:
Ainslie L.K. Derrick-Roberts
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100831- (2022)
Externí odkaz:
https://doaj.org/article/0925631836264f11bf29d246725a875a
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
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100668- (2020)
Bone elongation is driven by chondrocyte proliferation and hypertrophy in the growth plate. Both processes are modulated by multiple signaling pathways including the Indian Hedgehog (IHH) signaling pathway. Mucopolysaccharidoses (MPS) are a group of
Externí odkaz:
https://doaj.org/article/39b91f4575ef480ba7c8e5b2231827fc
Autor:
Wan Chin Liaw, Janice M. Fletcher, Peter Sharp, Matilda R. Jackson, Xiaodan Ding, Chun Ong, Xenia Kaidonis, Enzo Ranieri, Sharon Byers, Ainslie L.K. Derrick-Roberts
Publikováno v:
Molecular Genetics and Metabolism. 131:197-205
The cause of neurodegeneration in MPS mouse models is the focus of much debate and what the underlying cause of disease pathology in MPS mice is. The timing of development of pathology and when this can be reversed or impacted is the key to developin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d807843dcbe6d556c2ee4f944e700636
https://doi.org/10.1016/j.ymgme.2020.07.006
https://doi.org/10.1016/j.ymgme.2020.07.006
Publikováno v:
Bone. 132:115195
Endochondral bone growth is abnormal in 6 of the 11 types of mucopolysaccharidoses (MPS) disorders; resulting in short stature, reduced size of the thoracic cavity and compromised manual dexterity. Cut-rent therapies for MPS have had a limited effect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8259cc0fe33aaaa698b11e2faf48ce72
https://doi.org/10.1016/j.bone.2019.115195
https://doi.org/10.1016/j.bone.2019.115195
Autor:
Matilda R. Jackson, Ainslie L.K. Derrick-Roberts, Carmen E. Pyragius, Cory J. Xian, Sharon Byers, Zhirui Jiang, Janice M. Fletcher, Charné Rossouw
Short stature is a characteristic feature of most of the mucopolysaccharidoses, a group of inherited lysosomal storage disorders caused by a single enzyme deficiency. MPS patients present with progressive skeletal defects from an early age, including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3843762a6d7f097087ba78cf2108702f
https://hdl.handle.net/11541.2/132335
https://hdl.handle.net/11541.2/132335
Publikováno v:
Diseases, Vol 5, Iss 1, p 5 (2017)
Diseases; Volume 5; Issue 1; Pages: 5
Diseases
Diseases; Volume 5; Issue 1; Pages: 5
Diseases
Mucopolysaccharidosis type I (MPS I) is the most common form of the MPS group of genetic diseases. MPS I results from a deficiency in the lysosomal enzyme α-l-iduronidase, leading to accumulation of undegraded heparan and dermatan sulphate glycosami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f483c7296723db0675eeee0365272f8e
https://hdl.handle.net/11541.2/28171
https://hdl.handle.net/11541.2/28171
Autor:
Ainslie L.K. Derrick-Roberts, Gerald J. Atkins, Kavita Panir, Carmen E. Pyragius, Sharon Byers, Krystyna H. Zarrinkalam
Publikováno v:
Molecular genetics and metabolism. 119(3)
Severe, progressive skeletal dysplasia is a major symptom of multiple mucopolysaccharidoses (MPS) types. While a gene therapy approach initiated at birth has been shown to prevent the development of bone pathology in different animal models of MPS, t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d268c6bfb0b3e21607f4186c13f120e6
https://pubmed.ncbi.nlm.nih.gov/27692945
https://pubmed.ncbi.nlm.nih.gov/27692945
Autor:
Janice M. Fletcher, Peter Sharp, Xenia Kaidonis, Sharon Byers, Ainslie L.K. Derrick-Roberts, Enzo Ranieri
Mucopolysaccharidosis IIIA is a heritable neurodegenerative disorder resulting from the dysfunction of the lysosomal hydrolase sulphamidase. This leads to the primary accumulation of the complex carbohydrate heparan sulphate in a wide range of tissue
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a35111d4b8e130280005290f62fcc0f
https://hdl.handle.net/11541.2/28168
https://hdl.handle.net/11541.2/28168
Publikováno v:
Molecular Genetics and Metabolism. 106:214-220
MPS disorders result from a deficiency or absence of glycosaminoglycan (GAG) degrading enzymes leading to an imbalance between the synthesis and degradation of GAGs and their subsequent accumulation in a range of cells. The inhibition of GAG synthesi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b1a5f0543b18dcb083a47abb4c1c101
https://doi.org/10.1016/j.ymgme.2012.04.002
https://doi.org/10.1016/j.ymgme.2012.04.002