Výsledky vyhledávání - "Jeffrey Y. Huang"

Akademický článek

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Autor: Jerry F. Harb, Chloe L. Christensen, Shih-Hsin Kan, Allisandra K. Rha, Perla Andrade-Heckman, Laura Pollard, Richard Steet, Jeffrey Y. Huang, Raymond Y. Wang

Publikováno v: Molecular Therapy: Nucleic Acids, Vol 34, Iss , Pp 102022- (2023)

Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the SLC17A5 gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of the lysosome, leading to cellular d

Externí odkaz: https://doaj.org/article/9f2bdbea600d469e85d806bd6c11c8c8

Zobrazit plný text záznamu

Akademický článek

CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease

Autor: Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang

Publikováno v: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

Abstract Pompe disease, an autosomal recessive disorder caused by deficient lysosomal acid α-glucosidase (GAA), is characterized by accumulation of intra-lysosomal glycogen in skeletal and oftentimes cardiac muscle. The c.1935C>A (p.Asp645Glu) varia

Externí odkaz: https://doaj.org/article/23464ddf02a94fbeb809115494e48be1

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Hepatitis C virus has a genetically determined lymphotropism through co-receptor B7.2

Autor: Chia-Lin Chen, Jeffrey Y. Huang, Chun-Hsiang Wang, Stanley M Tahara, Lin Zhou, Yasuteru Kondo, Joel Schechter, Lishan Su, Michael M C. Lai, Takaji Wakita, François-Loïc Cosset, Jae U Jung, Keigo Machida

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)

Infection of B cells by hepatitis C virus (HCV) is poorly understood, but is thought to result in lymphoproliferative disorders. Here, Chenet al. identify CD86 as co-receptor for lymphotropic HCV and show that HCV infection inhibits memory B-cell fun

Externí odkaz: https://doaj.org/article/1991ac8957f64473b697653d17ea07e4

Zobrazit plný text záznamu

Akademický článek

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

Autor: Anke Vermehren-Schmaedick, Jeffrey Y. Huang, Madison Levinson, Matthew B. Pomaville, Sarah Reed, Gary A. Bellus, Fred Gilbert, Boris Keren, Delphine Heron, Damien Haye, Christine Janello, Christine Makowski, Katharina Danhauser, Lev M. Fedorov, Tobias B. Haack, Kevin M. Wright, Michael S. Cohen

Publikováno v: Cells, Vol 10, Iss 6, p 1289 (2021)

PARP6, a member of a family of enzymes (17 in humans) known as poly-ADP-ribose polymerases (PARPs), is a neuronally enriched PARP. While previous studies from our group show that Parp6 is a regulator of dendrite morphogenesis in rat hippocampal neuro

Externí odkaz: https://doaj.org/article/8ff36d525ddf4f6e84929af32c3cf56e

Zobrazit plný text záznamu

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weakness

Autor: Emilie K. Sandfeld, Shih-hsin Kan, Jeremy Davis-Turak, Nancy D. Dalton, Raymond Y. Wang, Jon Neumann, Jeffrey Y. Huang, Anthony D. Rangel, Yunghang Chan

Publikováno v: Scientific Reports, Vol 10, Iss 1, Pp 1-13 (2020)
Scientific Reports
Scientific reports, vol 10, iss 1

The goal of this study is to generate and characterize a knock-in model of Pompe disease (PD) – a rare, progressive, fatal disorder primarily affecting the cardiac and musculoskeletal systems. While a murine model of PD exists, it bears a Cre/loxP

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff3b0608896a0957cb158af5c5d75dd
http://link.springer.com/article/10.1038/s41598-020-65259-8

Zobrazit plný text záznamu

Plný text ve formátu HTML

Prime editing corrects the c.1826dupA mutation in infantile-onset Pompe disease

Autor: Allisandra K. Rha, Jeffrey Y. Huang, Shih-hsin Kan, Jerry Harb, Chloe Christensen, Raymond Y. Wang

Publikováno v: Molecular Genetics and Metabolism. 135:S104-S105

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4ef9bcec54ef56f3466b588cbc01588f
https://doi.org/10.1016/j.ymgme.2021.11.275

Zobrazit plný text záznamu

Hepatitis C virus has a genetically determined lymphotropism through co-receptor B7.2

Autor: Joel E. Schechter, Lishan Su, Chia-Lin Chen, Keigo Machida, François-Loïc Cosset, Jeffrey Y. Huang, Takaji Wakita, Jae U. Jung, Yasuteru Kondo, Chun-Hsiang Wang, Stanley M. Tahara, Lin Zhou, Michael M. C. Lai

Publikováno v: Nature Communications, Vol 8, Iss 1, Pp 1-17 (2017)
Nature Communications
Nature Communications, Nature Publishing Group, 2017, 8, pp.13882. ⟨10.1038/ncomms13882⟩
Nature Communications, 2017, 8, pp.13882. ⟨10.1038/ncomms13882⟩

B-cell infection by hepatitis C virus (HCV) has been a controversial topic. To examine whether HCV has a genetically determined lymphotropism through a co-receptor specific for the infection by lymphotropic HCV, we established an infectious clone and

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87bd36272c40ece08a6f14b9f91f4959
https://doaj.org/article/1991ac8957f64473b697653d17ea07e4

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání