Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Francis Y.M. Choy"'
Publikováno v:
EBioMedicine, Vol 13, Iss C, Pp 13-14 (2016)
Externí odkaz:
https://doaj.org/article/1b2f69d46d1046688b8b9b9978ebf583
Autor:
Tessa N. Campbell, Francis Y.M. Choy
Publikováno v:
BioTechniques, Vol 30, Iss 1, Pp 32-34 (2001)
Externí odkaz:
https://doaj.org/article/16829fde9adb4b268ec92de13f177174
Publikováno v:
Archives of Clinical and Biomedical Research. :200-208
Background: Sanfilippo B syndrome, or mucopolysaccharidosis type IIIB (MPS IIIB), is a rare lysosomal storage disorder resulting from mutations in NAGLU, which encodes for the enzyme α-Nacetylglucosaminidase (NAGLU). Patients afflicted with this dis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::229a322585548b89b4011e19cdd184c3
https://doi.org/10.26502/acbr.50170022
https://doi.org/10.26502/acbr.50170022
Autor:
Jenna Thompson, Anna-Maria Hilton, Emma Wells-Durand, Francis Y.M. Choy, Samuel Chu, Chloe L. Christensen
Publikováno v:
Molecular Genetics and Metabolism. 132:S26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5b949ebea3314fbae561ce32de20df64
https://doi.org/10.1016/j.ymgme.2020.12.042
https://doi.org/10.1016/j.ymgme.2020.12.042
Publikováno v:
Molecular Genetics and Metabolism. 129:S41
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::883ceff4af6d434983c808d7edb7e22a
https://doi.org/10.1016/j.ymgme.2019.11.083
https://doi.org/10.1016/j.ymgme.2019.11.083
Publikováno v:
Diseases
Diseases, Vol 5, Iss 1, p 6 (2017)
Diseases, Vol 5, Iss 1, p 6 (2017)
Ease of design, relatively low cost and a multitude of gene-altering capabilities have all led to the adoption of the sophisticated and yet simple gene editing system: clustered regularly interspaced short palindromic repeats/CRISPR-associated protei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48eae3b06d0071a560bf2a341a1bb077
http://europepmc.org/articles/PMC5456334
http://europepmc.org/articles/PMC5456334
Publikováno v:
Gene. 538:84-87
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from deficient glucocerebrosidase activity. There have been nearly 300 mutations described to date. Novel mutations can potentially provide insight into the biochemical ba
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f094203661ff0f7ed489d4789de7999
https://doi.org/10.1016/j.gene.2014.01.015
https://doi.org/10.1016/j.gene.2014.01.015
Publikováno v:
Diseases, Vol 7, Iss 3, p 47 (2019)
Diseases
Diseases
Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb60b365e2434f2937763ff03e724d43
https://doi.org/10.3390/diseases7030047
https://doi.org/10.3390/diseases7030047
Publikováno v:
Molecular Genetics and Metabolism. 126:S25
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cff62137922ec613a2f9cb4b9624dac6
https://doi.org/10.1016/j.ymgme.2018.12.039
https://doi.org/10.1016/j.ymgme.2018.12.039
Publikováno v:
Process Biochemistry. 48:1197-1202
Human α-N-acetylglucosaminidase (Naglu) is a lysosomal acid hydrolase implicated in Mucopolysaccharidosis type IIIB (MPS IIIB). We utilize a Spodoptera frugiperda (Sf9) system to express Naglu fused to a synthetic protein transduction domain in hope
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2bcb8b05198a3e323906a65acbe3963c
https://doi.org/10.1016/j.procbio.2013.05.007
https://doi.org/10.1016/j.procbio.2013.05.007