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Last update 08 May 2025

Alpha-1,3-glucosyltransferases

Last update 08 May 2025

Basic Info

Synonyms

Dol-P-Glc:Man(9)GlcNAc(2)-PP-Dol alpha-1->3-glucosyltransferases, Dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha-1,3-glucosyltransferases

Introduction-

Drugs associated with Alpha-1,3-glucosyltransferases

WO2022129115

Patent Mining

Target

Alpha-1,3-glucosyltransferases

Mechanism-

Active Org.

Vrije Universiteit Brussel [+3]

Originator Org.

Universidad Complutense de Madrid [+3]

Active Indication

Infectious Diseases

Inactive Indication-

Drug Highest PhaseDiscovery

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with Alpha-1,3-glucosyltransferases

100 Translational Medicine associated with Alpha-1,3-glucosyltransferases

0 Patents (Medical) associated with Alpha-1,3-glucosyltransferases

185

Literatures (Medical) associated with Alpha-1,3-glucosyltransferases

08 Apr 2025·Clinical Kidney Journal

The spectrum of diseases, genetic landscape and new mutation sites of hereditary cystic kidney disease

Article

Author: Li, Shuang ; Wang, Peng ; Xie, Yuansheng ; Li, Qinggang ; Guo, Wenkai ; Bi, Jingru ; Ji, Pengcheng

ABSTRACTBackgroundCystic kidney disease is common. Beyond autosomal dominant polycystic kidney disease (ADPKD), knowledge of other hereditary forms of cystic kidney disease remains limited. This study aimed to retrospectively analyse 702 patients with multiple renal cysts from the Chinese PLA General Hospital (September 2015–December 2023).MethodsPatients suspected of having hereditary cystic kidney disease underwent next-generation sequencing (NGS) and subsequent bioinformatics analysis. Variations were assessed for pathogenicity in accordance with the American College of Medical Genetics and Genomics (ACMG) guidelines. Moreover, the ClinVar and Mastermind databases were used to identify novel mutation sites. Statistical analysis was performed using SPSS 25.0 software.ResultsOf 702 patients, 96 (13.7%) lacked gene mutations associated with cystic kidney disease. In contrast, 606 patients (86.3%) were found to have gene mutations associated with renal cyst phenotypes, involving 23 unique mutated genes. Among these, mutations in 158 patients were categorized as variants of uncertain significance. The remaining 448 patients harboured mutations predicted by the ACMG guidelines to be pathogenic or likely pathogenic, enabling a diagnosis of hereditary cystic kidney disease. These mutations were linked to seven diseases and 10 genes. The most common was ADPKD [434 cases (96.9%)], followed by autosomal dominant tubulointerstitial kidney disease [ADTKD; six cases (1.3%)], autosomal recessive polycystic kidney disease [ARPKD; five cases (1.1%)] and tuberous sclerosis complex [two cases (0.4%)]. One case each was found for autosomal dominant polycystic liver disease, COL4A1-related disease and IFT140-related disease. The mutated genes included PKD1, PKD2, GANAB, HNF1B, REN, PKHD1, ALG8, IFT140, COL4A1 and TSC2. Moreover, 63 novel pathogenic or likely pathogenic variants were identified.ConclusionIn this study we identified 23 mutated genes linked to renal cyst phenotypes, 10 of which had pathogenic or likely pathogenic variants. These findings facilitated the diagnosis of seven hereditary cystic kidney diseases, including ADPKD, ADTKD, ARPKD and others. Furthermore, 63 novel pathogenic or likely pathogenic variants were identified.

14 Mar 2025·Medicine

Exploring the effective components and mechanism of action of Sojae Semen Praeparatum against depressive disorder based on bioconfidence analysis

Article

Author: Fang, Cong ; Yu, DanDan ; Zhang, Chen ; Li, Fan ; Chen, QingFeng ; Li, Jian

Depressive disorder is a mental disorder characterized by significant and persistent low mood and cognitive impairments such as memory loss. Sojae Semen Praeparatum (SSP), a traditional Chinese medicine capable of dual use in food for medicinal purposes, can significantly reduce the level of inflammatory factors, but it is not clear whether SSP contains a component that produces an ameliorative effect on depressive disorder by acting on the Tryptophan-Kynurenine pathway (TK pathway). This study aimed to explore the material basis and mechanism of action of the TK pathway, combined with raw letter analysis and molecular docking methods. Through database screening, target comparison, Gene Ontology (GO) annotation, protein-protein interaction analysis, molecular docking, and intermolecular force validation. Differential genes of 4588 clinical patients with depression were obtained through database screening, and 29 shared targets, such as the SKI protooncogene and PR domain-containing protein 16, were obtained by comparison with 295 targets in the existing disease database. Gene Ontology Annotation (GO annotation) and protein-protein interaction analysis using Metascape and String platforms revealed that they were mainly involved in biological processes, such as cell morphogenesis involved in neuron differentiation. Using molecular docking and intermolecular force validation, it was found that 10 components of tempeh, including caffeic acid, interacted with tryptophan, kynurenine, and ALG6 targets in the tryptophan-kynurenine signaling pathway through hydrogen bonding, hydrophobic interactions, and electrostatic interactions. It was determined that 10 ingredients, including caffeic acid in SSP, interact with tryptophan, kynurenine, and ALG6 targets through hydrogen bonding and other forces, thus producing relevant therapeutic effects.

01 Mar 2025·Mammalian Genome

Genome-wide study for signatures of selection identifies genomic regions and candidate genes associated with milk traits in sheep

Article

Author: Gholizadeh, Mohsen ; Sahebalam, Hamid ; Ebrahimi, Fatemeh

Milk production traits in sheep are influenced by complex genetic factors, and understanding these traits requires the identification of candidate genes under selection. This study employed two methods, FST and XP-EHH, to identify selection signatures and candidate genes associated with milk production traits in sheep. For this purpose, 9 different breeds from the Sheep HapMap dataset generated by the International Sheep Genomics Consortium (ISGC) based on analysis of the Ovine SNP50 BeadChip were used. The dairy breeds included Brown East Friesian (n = 39), Milk Lacaune (n = 103), Chios (n = 23), Churra (n = 120), and Comisana (n = 24), while the non-dairy breeds included Afshari (n = 37), Moghani (n = 34), Galway (n = 49), and Australian Suffolk (n = 109). Genomic regions in the top 0.1 percentile of FST values revealed 71 genes, while regions with the highest positive XP-EHH values identified 69 genes. Five overlapping genes-DHRS3, TNFRSF1B, AADACL4, ARHGEF11, and LRRC71-were detected by both methods, highlighting their relevance to milk production. Several candidate genes in regions identified from FST, such as PER2, SH3PXD2A, TMEM117, DDX6, PDCD11, CALHM2, and CALHM3, have been previously associated with milk production traits. Notably, CRABP2, PEAR1, PGM1, ALG6, COX15, and OAT were identified in regions with high XP-EHH values in the dairy group. Gene ontology analysis indicated that the identified genes are enriched in pathways related to chemokine receptor activity, gap junction channel activity, and gap junction-mediated intercellular transport, as well as cellular components like the connexin complex. Further studies on these genes may improve understanding of the genetic architecture of milk production traits in sheep.

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Alpha-1,3-glucosyltransferases

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