Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Zih-Liang Yang"'
Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47
Autor:
Jessica P Wiseman, Joseph M Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K Davies, Paolo M Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J Robin Highley, Neil Hackett, Adrienn Angyal, Thushan de Silva, Adrian Higginbottom, Pamela J Shaw, Laura Ferraiuolo, Darius Ebrahimi-Fakhari, Mimoun Azzouz
Publikováno v:
EMBO Molecular Medicine, Vol 16, Iss 11, Pp 2882-2917 (2024)
Abstract Spastic paraplegia 47 (SPG47) is a neurological disorder caused by mutations in the adaptor protein complex 4 β1 subunit (AP4B1) gene leading to AP-4 complex deficiency. SPG47 is characterised by progressive spastic paraplegia, global devel
Externí odkaz:
https://doaj.org/article/7525f462e89f4274b18148dc6adcb126
Autor:
Zih-Liang Yang, 楊子諒
104
During translation, ribosome is responsible for reading-frame maintenance to guarantee codons translated into amino acids in correct order and folded into functional proteins. However, some specific signals within mRNAs can induce a fractio
During translation, ribosome is responsible for reading-frame maintenance to guarantee codons translated into amino acids in correct order and folded into functional proteins. However, some specific signals within mRNAs can induce a fractio
Externí odkaz:
http://ndltd.ncl.edu.tw/handle/48225291165311531880
Autor:
Zih-Liang Yang, 楊子良
92
The purpose of this research work was an attempt to the structure-property correlation in the chiral liquid crystal materials. Four series chiral liquid crystal materials which have an amide linkage were designed and synthesized in order to i
The purpose of this research work was an attempt to the structure-property correlation in the chiral liquid crystal materials. Four series chiral liquid crystal materials which have an amide linkage were designed and synthesized in order to i
Externí odkaz:
http://ndltd.ncl.edu.tw/handle/48453768541389440446
Autor:
Joseph M Scarrott, João Alves-Cruzeiro, Paolo M Marchi, Christopher P Webster, Zih-Liang Yang, Evangelia Karyka, Raffaele Marroccella, Ian Coldicott, Hannah Thomas, Mimoun Azzouz
Publikováno v:
Brain Communications
Mutations in any one of the four subunits (ɛ4, β4, μ4 and σ4) comprising the adaptor protein Complex 4 results in a complex form of hereditary spastic paraplegia, often termed adaptor protein Complex 4 deficiency syndrome. Deficits in adaptor pro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60122844c5386f6741f34955a293c0ba
https://doi.org/10.1093/braincomms/fcac335
https://doi.org/10.1093/braincomms/fcac335
Autor:
Lara Marrone, Paolo M Marchi, Christopher P Webster, Raffaele Marroccella, Ian Coldicott, Steven Reynolds, João Alves-Cruzeiro, Zih-Liang Yang, Adrian Higginbottom, Mukhran Khundadze, Pamela J Shaw, Christian A Hübner, Matthew R Livesey, Mimoun Azzouz
Publikováno v:
Human Molecular Genetics
Hereditary spastic paraplegia type 15 (HSP15) is a neurodegenerative condition caused by the inability to produce SPG15 protein, which leads to lysosomal swelling. However, the link between lysosomal aberrations and neuronal death is poorly explored.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f35f6183b3de31bbe7662bdddf7a4172
https://pubmed.ncbi.nlm.nih.gov/35313342
https://pubmed.ncbi.nlm.nih.gov/35313342
Autor:
Scarrott, Joseph M., Alves-Cruzeiro, João, Marchi, Paolo M., Webster, Christopher P., Zih-Liang Yang, Karyka, Evangelia, Marroccella, Raffaele, Coldicott, Ian, Thomas, Hannah, Azzouz, Mimoun
Publikováno v:
Brain Communications; 2023, Vol. 5 Issue 1, p1-17, 17p