Zobrazeno 1 - 10
of 79
pro vyhledávání: '"Heather Flanagan"'
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:
Brittany T. Truong, Lomeli C. Shull, Ezra Lencer, Eric G. Bend, Michael Field, Elizabeth E. Blue, Michael J. Bamshad, Cindy Skinner, David Everman, Charles E. Schwartz, Heather Flanagan-Steet, Kristin B. Artinger
Publikováno v:
Disease Models & Mechanisms, Vol 16, Iss 4 (2023)
Externí odkaz:
https://doaj.org/article/c0a757e69bd44ff28873ec2e013dc8c8
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
Publikováno v:
Frontiers in Research Metrics and Analytics, Vol 6 (2021)
Trust is a core component of collaboration. Trust is a local phenomenon, and scientific research is a global collaborative, its impact multiplied through open exchange, communication and mobility of people and information. Given the diversity of part
Externí odkaz:
https://doaj.org/article/807d5d4fd20e4a3784d006a0d1e9da5d
Autor:
Po-Nien Lu, Trevor Moreland, Courtney J. Christian, Troy C. Lund, Richard A. Steet, Heather Flanagan-Steet
Publikováno v:
JCI Insight, Vol 5, Iss 20 (2020)
Although congenital heart defects (CHDs) represent the most common birth defect, a comprehensive understanding of disease etiology remains unknown. This is further complicated since CHDs can occur in isolation or as a feature of another disorder. Ana
Externí odkaz:
https://doaj.org/article/9e731d35097f4c88b50a577195b3997a
Autor:
Kristin M. Ates, Tong Wang, Trevor Moreland, Rajalakshmi Veeranan-Karmegam, Manxiu Ma, Chelsi Jeter, Priya Anand, Wolfgang Wenzel, Hyung-Goo Kim, Lynne A. Wolfe, Joshi Stephen, David R. Adams, Thomas Markello, Cynthia J. Tifft, Robert Settlage, William A. Gahl, Graydon B. Gonsalvez, May Christine Malicdan, Heather Flanagan-Steet, Y. Albert Pan
Publikováno v:
Disease Models & Mechanisms, Vol 13, Iss 5 (2020)
A critical barrier in the treatment of endosomal and lysosomal diseases is the lack of understanding of the in vivo functions of the putative causative genes. We addressed this by investigating a key pair of endocytic adaptor proteins, PH domain-cont
Externí odkaz:
https://doaj.org/article/5fdaaca4db97458da46d83a12c823db0
Autor:
Heather Flanagan-Steet, Courtney Christian, Po-Nien Lu, Megan Aarnio-Peterson, Laura Sanman, Stephanie Archer-Hartmann, Parastoo Azadi, Matthew Bogyo, Richard A. Steet
Publikováno v:
Cell Reports, Vol 22, Iss 11, Pp 2964-2977 (2018)
Summary: Cysteine cathepsins play roles during development and disease beyond their function in lysosomal protein turnover. Here, we leverage a fluorescent activity-based probe (ABP), BMV109, to track cysteine cathepsins in normal and diseased zebraf
Externí odkaz:
https://doaj.org/article/b0d4cabe87ad4f0bb576918a90b828f7
Autor:
Elsenoor Klaver, Peng Zhao, Melanie May, Heather Flanagan-Steet, Hudson H. Freeze, Reid Gilmore, Lance Wells, Joseph Contessa, Richard Steet
Publikováno v:
Disease Models & Mechanisms, Vol 12, Iss 6 (2019)
Global inhibition of N-linked glycosylation broadly reduces glycan occupancy on glycoproteins, but identifying how this inhibition functionally impacts specific glycoproteins is challenging. This limits our understanding of pathogenesis in the congen
Externí odkaz:
https://doaj.org/article/71db76a11e90405f8d9d510bf04c122f
Publikováno v:
International Journal of Neonatal Screening, Vol 6, Iss 4, p 88 (2020)
The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme α-L-iduronidase. Newborn screening efforts for MPSI have greatly increased the number of nov
Externí odkaz:
https://doaj.org/article/58d645a1e408479789067749059c847f
Autor:
Brianna M. Naumchik, Ashish Gupta, Heather Flanagan-Steet, Richard A. Steet, Sara S. Cathey, Paul J. Orchard, Troy C. Lund
Publikováno v:
Cells, Vol 9, Iss 6, p 1411 (2020)
The glycoprotein disorders are a group of lysosomal storage diseases (α-mannosidosis, aspartylglucosaminuria, β-mannosidosis, fucosidosis, galactosialidosis, sialidosis, mucolipidosis II, mucolipidosis III, and Schindler Disease) characterized by s
Externí odkaz:
https://doaj.org/article/7d1ba3c4a8904b5ea45a687286544437