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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.
Proteins|October 28, 2003
Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modelingDonald Petrey, Zhexin Xiang, Christopher L Tang, et al.
The Journal of Biological Chemistry|May 18, 2025
Quantification and structure-function analysis of calpain-1 and calpain-2 protease subunit interactionsIvan Shapovalov, Prawin Rimal, Pitambar Poudel, et al.
Proteins|October 18, 2011
Progress in the prediction of pKa values in proteinsEmil Alexov, Ernest L Mehler, Nathan Baker, et al.
The Journal of Biological Chemistry|March 18, 2017
Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disabilityKrithika Vaidyanathan, Tejasvi Niranjan, Nithya Selvan, et al.
Cell Reports. Medicine|May 5, 2021
Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilitiesRossana Aprigliano, Merdane Ezgi Aksu, Stefano Bradamante, et al.
Human Molecular Genetics|June 10, 2015
ZC4H2, an XLID gene, is required for the generation of a specific subset of CNS interneuronsMelanie May, Kyu-Seok Hwang, Judith Miles, et al.
Human Genetics|December 23, 2024
Assessing the predicted impact of single amino acid substitutions in calmodulin for CAGI6 challengesPaola Turina, Giuditta Dal Cortivo, Carlos A Enriquez Sandoval, et al.
Nature Communications|July 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathyYu-Ri Lee, Kamal Khan, Kim Armfield-Uhas, et al.
Human Genetics|February 20, 2025
Assessing the predicted impact of single amino acid substitutions in MAPK proteins for CAGI6 challengesPaola Turina, Maria Petrosino, Carlos A Enriquez Sandoval, et al.
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