Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Annalisa Nguyen"'
Autor:
Jason Pinkstaff, Emma McCullagh, Anita Grover, Andrew C. Melton, Anu Cherukuri, Jill CM Wait, Annalisa Nguyen, Mark T. Butt, Jami L. Trombley, Randall P. Reed, Eric.L. Adams, Robert B. Boyd, Sundeep Chandra, Joshua Henshaw, Charles A. O’Neill, Eric Zanelli, Joseph Kovalchin
Publikováno v:
Toxicology Reports, Vol 10, Iss , Pp 357-366 (2023)
Mucopolysaccharidosis Type IIIB (MPS IIIB) is an ultrarare, fatal pediatric disease with no approved therapy. It is caused by mutations in the gene encoding for lysosomal enzyme alpha-N-acetylglucosaminidase (NAGLU). Tralesinidase alfa (TA) is a fusi
Externí odkaz:
https://doaj.org/article/cfbd12d153c245b5adea0f11f64be6c8
Autor:
Sundeep Chandra, Katherine Bibi, Charles A. O'Neill, John Sinclair, Daniella P. Vansteenkiste, Martin L. Katz, Jacqueline W. Pearce, Annalisa Nguyen, Grace Robinson Kick, Stefanie Lim, Leilani J. Castaner, Rebecca E.H. Whiting
Publikováno v:
Exp Eye Res
CLN2 neuronal ceroid lipofuscinosis is a hereditary neurodegenerative disorder characterized by progressive vision loss, neurological decline, and seizures. CLN2 disease results from mutations in TPP1 that encodes the lysosomal enzyme tripeptidyl pep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f993cf47b7dc132a777799fb9a5ae6ab
https://europepmc.org/articles/PMC7484259/
https://europepmc.org/articles/PMC7484259/
Autor:
Rebecca E.H. Whiting, Annalisa Nguyen, Charles A. O'Neill, Martin L. Katz, Joseph B. Kowal, Cheryl A. Jensen, Stefanie Lim, Carley R. Corado, Grace Robinson Kick, Leilani J. Castaner, Juri Ota-Kuroki
Publikováno v:
Exp Eye Res
CLN2 neuronal ceroid lipofuscinosis is a rare recessive hereditary retinal and neurodegenerative disease resulting from deleterious sequence variants in TPP1 that encodes the soluble lysosomal enzyme tripeptidyl peptidase-1 (TPP1). Children with this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6981cfc8ea142c1b7a7a2b81c2067604
https://pubmed.ncbi.nlm.nih.gov/32634395
https://pubmed.ncbi.nlm.nih.gov/32634395