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Heather Flanagan

Showing results (31-40 of 47) with videos related to

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Disease Models & Mechanisms|November 3, 2011
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis IIAaron C Petrey, Heather Flanagan-Steet, Steven Johnson, et al.
Molecular Biology of the Cell|September 8, 2012
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiencyAbigail Cline, Ningguo Gao, Heather Flanagan-Steet, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
JCI Insight|November 16, 2021
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesisElsenoor J Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, et al.
Human Molecular Genetics|September 13, 2013
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylationLuigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, et al.
Genetics|December 31, 2024
A Drosophila model of mucopolysaccharidosis IIIBBibhu Simkhada, Nestor O Nazario-Yepiz, Patrick S Freymuth, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Disease Models & Mechanisms|April 21, 2023
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformationBrittany T Truong, Lomeli C Shull, Ezra Lencer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiencySeok-Ho Yu, Tong Wang, Kali Wiggins, et al.
Disease Models & Mechanisms|January 26, 2026
Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVAJen-Jie Lee, Po-Nien Lu, Lynn Dukes-Rimsky, et al.
Pageof 5

Showing results (31-40 of 47) with videos related to

Sort By:
Pageof 5
Disease Models & Mechanisms|November 3, 2011
Excessive activity of cathepsin K is associated with cartilage defects in a zebrafish model of mucolipidosis IIAaron C Petrey, Heather Flanagan-Steet, Steven Johnson, et al.
Molecular Biology of the Cell|September 8, 2012
A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiencyAbigail Cline, Ningguo Gao, Heather Flanagan-Steet, et al.
Cell Reports|November 19, 2024
O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorderCourtney Matheny-Rabun, Sneha S Mokashi, Silvia Radenkovic, et al.
JCI Insight|November 16, 2021
Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesisElsenoor J Klaver, Lynn Dukes-Rimsky, Brijesh Kumar, et al.
Human Molecular Genetics|September 13, 2013
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylationLuigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, et al.
Genetics|December 31, 2024
A Drosophila model of mucopolysaccharidosis IIIBBibhu Simkhada, Nestor O Nazario-Yepiz, Patrick S Freymuth, et al.
NPJ Genomic Medicine|April 24, 2026
Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autismCourtney Matheny-Rabun, Lynda Holloway, Ken Corning, et al.
Disease Models & Mechanisms|April 21, 2023
PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformationBrittany T Truong, Lomeli C Shull, Ezra Lencer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 18, 2021
Lysosomal cholesterol accumulation contributes to the movement phenotypes associated with NUS1 haploinsufficiencySeok-Ho Yu, Tong Wang, Kali Wiggins, et al.
Disease Models & Mechanisms|January 26, 2026
Enhanced lysosomal exocytosis and altered growth factor signaling are associated with cartilage pathology in a zebrafish model of MPSIVAJen-Jie Lee, Po-Nien Lu, Lynn Dukes-Rimsky, et al.
Pageof 5