Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Raymond Wang"'
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)
Abstract Background Mucopolysaccharidosis VII (MPS VII) is an ultra-rare, autosomal recessive, debilitating, progressive lysosomal storage disease caused by reduced activity of β-glucuronidase (GUS) enzyme. Vestronidase alfa (recombinant human GUS)
Externí odkaz:
https://doaj.org/article/035cbead2c0241dba2d01dd40974329c
Autor:
Young Bae Sohn, Raymond Wang, Jane Ashworth, Pierre Broqua, Mireille Tallandier, Jean-Louis Abitbol, Erin Jozwiak, Laura Pollard, Timothy C. Wood, Tariq Aslam, Paul R. Harmatz
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101041- (2024)
Mucopolysaccharidosis type VI (MPS VI) is an autosomal recessive lysosomal storage disorder characterized by deficient activity of arylsulfatase B enzyme (ASB) resulting in cellular accumulation of dermatan sulfate (DS) and chondroitin sulfate (CS) t
Externí odkaz:
https://doaj.org/article/efb44fff9b354619a473658aafb0ccd6
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100875- (2024)
Externí odkaz:
https://doaj.org/article/dd5c6ffd103d4a67a15bd4ef3f3cf744
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101157- (2024)
Externí odkaz:
https://doaj.org/article/aa2da1fa7f1f46a4a2ce1c92fa0270f8
Autor:
Shijie Zhou, Raymond Wang, Avery Seagren, Noah Emmert, James W. Warren, Paul J. MacInnis, Amir AbdelWahab, John L. Sapp
Publikováno v:
Frontiers in Physiology, Vol 14 (2023)
Background: We previously developed a non-invasive approach to localize the site of early left ventricular activation origin in real time using 12-lead ECG, and to project the predicted site onto a generic LV endocardial surface using the smallest an
Externí odkaz:
https://doaj.org/article/a0884e4ae72d4638b2e241c8124959d5
Publikováno v:
Stem Cell Research, Vol 69, Iss , Pp 103117- (2023)
Pompe disease is an autosomal recessive lysosomal storage disease caused by pathogenic variants in GAA, which encodes an enzyme integral to glycogen catabolism, acid α-glucosidase. Disease-relevant cell lines are necessary to evaluate the efficacy o
Externí odkaz:
https://doaj.org/article/c612482487e44409bb7455683725df58
Autor:
Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100218- (2023)
Externí odkaz:
https://doaj.org/article/51f01bfed75f42b5b1f964c5d5864064
Autor:
Raymond Wang, Louis Kang
Publikováno v:
PLoS Computational Biology, Vol 18, Iss 10, p e1010547 (2022)
A central function of continuous attractor networks is encoding coordinates and accurately updating their values through path integration. To do so, these networks produce localized bumps of activity that move coherently in response to velocity input
Externí odkaz:
https://doaj.org/article/b193bb51d70a44749470844923cc7739
Autor:
Rohit Prakash, Thomas Sandoval, Florian Morati, Jennifer A. Zagelbaum, Pei-Xin Lim, Travis White, Brett Taylor, Raymond Wang, Emilie C. B. Desclos, Meghan R. Sullivan, Hayley L. Rein, Kara A. Bernstein, Przemek M. Krawczyk, Jean Gautier, Mauro Modesti, Fabio Vanoli, Maria Jasin
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Human SWS1, SWSAP1, and SPIDR interact with RAD51, a critical protein for homology-directed repair. Here the authors reveal roles for the mouse SWS1–SWSAP1–SPIDR complex in inter-homolog recombination, including during meiosis, and sister chromat
Externí odkaz:
https://doaj.org/article/1b96dd6800dc4b43afc200198f18973b
Autor:
Cristel C. Chapel-Crespo, Ricardo Villalba, Raymond Wang, Monica Boyer, Richard Chang, Hans R. Waterham, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100608- (2020)
Externí odkaz:
https://doaj.org/article/d0e4a570f8cd4a7ba27e5a1a7d1b77d6