Zobrazeno 1 - 10
of 87
pro vyhledávání: '"Richard, Steet"'
Autor:
Jen-Jie Lee, Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska, Eric Samarut, Laura M. Pollard, Heather Flanagan-Steet, Richard Steet
Publikováno v:
iScience, Vol 27, Iss 4, Pp 109293- (2024)
Summary: The classic view of the lysosome as a static recycling center has been replaced with one of a dynamic and mobile hub of metabolic regulation. This revised view raises new questions about how dysfunction of this organelle causes pathology in
Externí odkaz:
https://doaj.org/article/9d229b2a21904723996c072b771dd568
Autor:
Jenny Goldstein, Amber Waddell, Carlos Aschoff, Xiangwen Chen-Deutsch, Matthew Ellinwood, Roberto Mendez, Raquel Fernandez, Deeksha Bali, Troy Lund, Laura Pollard, Richard Steet, Filippo Pinto e Vairo, Timothy Wood, Lorne Clarke, Catherine Rehder
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100877- (2024)
Externí odkaz:
https://doaj.org/article/b527ee7bd72c43f48b7b5dc695356788
Autor:
Jessica Cooley Coleman, Sneha Mokashi, Adithya Kandhadai, Aubrey Rose, Richard Steet, Raymond Louie, Michael Lyons, Fatima Abidi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101569- (2024)
Externí odkaz:
https://doaj.org/article/54c619472c384253bb957d216e8642ed
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
Autor:
Natasha Rudy, Kazuhiro Aoki, Amitha Ananth, Lynda Holloway, Cindy Skinner, Anna Hurst, Michael Tiemeyer, Richard Steet
Publikováno v:
JIMD Reports, Vol 64, Iss 2, Pp 138-145 (2023)
Abstract GM3 synthase deficiency (GM3SD) is caused by biallelic variants in ST3GAL5. The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected individuals with GM3SD exhibit g
Externí odkaz:
https://doaj.org/article/204c7fa285a649e18e49b3a15749debc
Autor:
Aishwarya Siddharth, Christina Grassie, Emma Michl, Roy Peake, Olaf Bodamer, Richard Steet, Marzia Pasquali, Laura Pollard
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100002- (2023)
Externí odkaz:
https://doaj.org/article/058d83dfe6024efa91900cd73c81def9
Autor:
Ryan C Vignogna, Mariateresa Allocca, Maria Monticelli, Joy W Norris, Richard Steet, Ethan O Perlstein, Giuseppina Andreotti, Gregory I Lang
Publikováno v:
eLife, Vol 11 (2022)
The most common cause of human congenital disorders of glycosylation (CDG) are mutations in the phosphomannomutase gene PMM2, which affect protein N-linked glycosylation. The yeast gene SEC53 encodes a homolog of human PMM2. We evolved 384 population
Externí odkaz:
https://doaj.org/article/12fb21d1e1c5435787fcfc54b0ca4d30
Autor:
Xianzun Tao, Yi Zhu, Zoraida Diaz-Perez, Seok-Ho Yu, Jackson R. Foley, Tracy Murray Stewart, Robert A. Casero Jr., Richard Steet, R. Grace Zhai
Publikováno v:
JCI Insight, Vol 7, Iss 13 (2022)
Polyamine dysregulation plays key roles in a broad range of human diseases from cancer to neurodegeneration. Snyder-Robinson syndrome (SRS) is the first known genetic disorder of the polyamine pathway, caused by X-linked recessive loss-of-function mu
Externí odkaz:
https://doaj.org/article/a6c751f5d2ab41d29f14f66b38a91469
Autor:
Elsenoor J. Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, Zhi-Jie Xia, Tammie Dang, Mark A. Lehrman, Peggi Angel, Richard R. Drake, Hudson H. Freeze, Richard Steet, Heather Flanagan-Steet
Publikováno v:
JCI Insight, Vol 6, Iss 24 (2021)
The genetic bases for the congenital disorders of glycosylation (CDG) continue to expand, but how glycosylation defects cause patient phenotypes remains largely unknown. Here, we combined developmental phenotyping and biochemical studies in a potenti
Externí odkaz:
https://doaj.org/article/d2597283620949a4bf31541aa31b6117
Autor:
Addison Neighbors, Tonya Moss, Lynda Holloway, Seok‐Ho Yu, Fran Annese, Steve Skinner, Russell Saneto, Richard Steet
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background The rare, X‐linked neurodegenerative disorder, Mohr–Tranebjaerg syndrome (also called deafness‐dystonia‐optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dyst
Externí odkaz:
https://doaj.org/article/dbd914df64284d34aa13e99f91cafaa9