Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease
RC Vignogna, M Allocca, M Monticelli, JW Norris… - Elife, 2022 - elifesciences.org
The most common cause of human congenital disorders of glycosylation (CDG) are
mutations in the phosphomannomutase gene PMM2, which affect protein N-linked …
mutations in the phosphomannomutase gene PMM2, which affect protein N-linked …
Enzyme dysfunction at atomic resolution: Disease-associated variants of human phosphoglucomutase-1
LJ Beamer - Biochimie, 2021 - Elsevier
Once experimentally prohibitive, structural studies of individual missense variants in proteins
are increasingly feasible, and can provide a new level of insight into human genetic disease …
are increasingly feasible, and can provide a new level of insight into human genetic disease …
Destabilization and Degradation of a Disease-Linked PGM1 Protein Variant
PGM1-linked congenital disorder of glycosylation (PGM1-CDG) is an autosomal recessive
disease characterized by several phenotypes, some of which are life-threatening. Research …
disease characterized by several phenotypes, some of which are life-threatening. Research …
Combined metabolomics and network pharmacology to elucidate the mechanisms of Dracorhodin Perchlorate in treating diabetic foot ulcer rats
P Deng, H Liang, S Wang, R Hao, J Han… - Frontiers in …, 2022 - frontiersin.org
Background: Diabetic foot ulcer (DFU) is a severe chronic complication of diabetes, that can
result in disability or death. Dracorhodin Perchlorate (DP) is effective for treating DFU, but …
result in disability or death. Dracorhodin Perchlorate (DP) is effective for treating DFU, but …
PSCAN: Spatial scan tests guided by protein structures improve complex disease gene discovery and signal variant detection
Germline disease-causing variants are generally more spatially clustered in protein 3-
dimensional structures than benign variants. Motivated by this tendency, we develop a fast …
dimensional structures than benign variants. Motivated by this tendency, we develop a fast …
Genetic validation of Aspergillus fumigatus phosphoglucomutase as a viable therapeutic target in invasive aspergillosis
K Yan, M Stanley, B Kowalski, OG Raimi… - Journal of Biological …, 2022 - ASBMB
Aspergillus fumigatus is the causative agent of invasive aspergillosis, an infection with
mortality rates of up to 50%. The glucan-rich cell wall of A. fumigatus is a protective structure …
mortality rates of up to 50%. The glucan-rich cell wall of A. fumigatus is a protective structure …
Structure and characterization of phosphoglucomutase 5 from atlantic and baltic herring—An inactive enzyme with intact substrate binding
Phosphoglucomutase 5 (PGM5) in humans is known as a structural muscle protein without
enzymatic activity, but detailed understanding of its function is lacking. PGM5 belongs to the …
enzymatic activity, but detailed understanding of its function is lacking. PGM5 belongs to the …
[HTML][HTML] Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape
N Himmelreich, S Ramón-Maiques, R Navarrete… - Molecular Genetics and …, 2024 - Elsevier
Phenylketonuria (PKU) is a genetic disorder caused by variations in the phenylalanine
hydroxylase (PAH) gene. Among the 3369 reported PAH variants, 33.7% are missense …
hydroxylase (PAH) gene. Among the 3369 reported PAH variants, 33.7% are missense …
Structural basis for substrate and product recognition in human phosphoglucomutase-1 (PGM1) isoform 2, a member of the α-d-phosphohexomutase superfamily
Abstract Human phosphoglucomutase 1 (PGM1) is an evolutionary conserved enzyme that
belongs to the ubiquitous and ancient α-d-phosphohexomutases, a large enzyme …
belongs to the ubiquitous and ancient α-d-phosphohexomutases, a large enzyme …
[HTML][HTML] Structural and dynamical description of the enzymatic reaction of a phosphohexomutase
Enzymes are known to adopt various conformations at different points along their catalytic
cycles. Here, we present a comprehensive analysis of 15 isomorphous, high resolution …
cycles. Here, we present a comprehensive analysis of 15 isomorphous, high resolution …