Richard Steet
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Explore the profile of Richard Steet including associated specialties, affiliations and a list of published articles.
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56
Citations
798
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Recent Articles
1.
Yu S, Kubaski F, Arno G, Phinney W, Wood T, Flanagan-Steet H, et al.
NPJ Genom Med
. 2024 Dec;
9(1):68.
PMID: 39702574
With the expansion of newborn screening efforts for MPS disorders, the number of identified variants of uncertain significance in IDUA continues to increase. To better define functional consequences of identified...
2.
Matheny-Rabun C, Mokashi S, Radenkovic S, Wiggins K, Dukes-Rimsky L, Angel P, et al.
Cell Rep
. 2024 Nov;
43(11):114976.
PMID: 39561044
Core components of the N-glycosylation pathway are known, but the metabolic and post-translational mechanisms regulating this pathway in normal and disease states remain elusive. Using a multi-omic approach in zebrafish,...
3.
Badenetti L, Yu S, Colonna M, Hull R, Bethard J, Ball L, et al.
Mol Genet Metab
. 2024 Oct;
143(3):108596.
PMID: 39461112
Defining the molecular consequences of lysosomal dysfunction in neuronal cell types remains an area of investigation that is needed to understand many underappreciated phenotypes associated with lysosomal disorders. Here we...
4.
Lee J, Wang T, Wiggins K, Lu P, Underwood C, Ochenkowska K, et al.
iScience
. 2024 Mar;
27(4):109293.
PMID: 38495824
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...
5.
Harb J, Christensen C, Kan S, Rha A, Andrade-Heckman P, Pollard L, et al.
Mol Ther Nucleic Acids
. 2023 Sep;
34:102022.
PMID: 37727271
Free sialic acid storage disorders (FSASDs) result from pathogenic variations in the gene, which encodes the lysosomal transmembrane protein sialin. Loss or deficiency of sialin impairs FSA transport out of...
6.
Dookwah M, Wagner S, Ishihara M, Yu S, Ulrichs H, Kulik M, et al.
Hum Mol Genet
. 2023 Sep;
32(24):3323-3341.
PMID: 37676252
GM3 Synthase Deficiency (GM3SD) is a neurodevelopmental disorder resulting from pathogenic variants in the ST3GAL5 gene, which encodes GM3 synthase, a glycosphingolipid (GSL)-specific sialyltransferase. This enzyme adds a sialic acid...
7.
Claus L, Chen C, Stallworth J, Turner J, Slaats G, Hawks A, et al.
Kidney Int
. 2023 Aug;
104(5):995-1007.
PMID: 37598857
Autosomal dominant polycystic kidney disease (ADPKD) resulting from pathogenic variants in PKD1 and PKD2 is the most common form of PKD, but other genetic causes tied to primary cilia function...
8.
Rudy N, Aoki K, Ananth A, Holloway L, Skinner C, Hurst A, et al.
JIMD Rep
. 2023 Mar;
64(2):138-145.
PMID: 36873089
GM3 synthase deficiency (GM3SD) is caused by biallelic variants in . The ganglioside GM3, enriched in neuronal tissues, is a component of lipid rafts and regulates numerous signaling pathways. Affected...
9.
Vignogna R, Allocca M, Monticelli M, Norris J, Steet R, Perlstein E, et al.
Elife
. 2022 Oct;
11.
PMID: 36214454
The most common cause of human congenital disorders of glycosylation (CDG) are mutations in the phosphomannomutase gene which affect protein -linked glycosylation. The yeast gene encodes a homolog of human...
10.
Colonna M, Moss T, Mokashi S, Srikanth S, Jones J, Foley J, et al.
Hum Mol Genet
. 2022 Sep;
32(5):732-744.
PMID: 36067040
Mono- and bi-allelic variants in ALDH18A1 cause a spectrum of human disorders associated with cutaneous and neurological findings that overlap with both cutis laxa and spastic paraplegia. ALDH18A1 encodes the...