SLC62 Pyrophosphate transporters

Last update 08 May 2025

Basic Info

Synonyms

ANKH inorganic pyrophosphate transport regulator family, Pyrophosphate transporters, SLC62 Pyrophosphate transporters

Introduction-

100 Clinical Results associated with SLC62 Pyrophosphate transporters

100 Translational Medicine associated with SLC62 Pyrophosphate transporters

0 Patents (Medical) associated with SLC62 Pyrophosphate transporters

177

Literatures (Medical) associated with SLC62 Pyrophosphate transporters

14 Apr 2025·Journal of Chemical Information and Modeling

ATP-Pred: Prediction of Protein-ATP Binding Residues via Fusion of Residue-Level Embeddings and Kolmogorov–Arnold Network

Article

Author: Zhang, Lingrong ; Liu, Taigang

Accurately identifying protein-ATP binding residues is essential for understanding biological processes and designing drugs. However, current sequence-based methods have limitations, such as difficulties in extracting discriminative features and the need for more efficient algorithms. Additionally, methods based on multiple sequence alignments often face challenges in handling large-scale predictions. To address these issues, we developed ATP-Pred, a sequence-based method for predicting ATP-binding residues in proteins. This model applies transfer learning by using two recently developed pretrain protein language models, Ankh and ProstT5, to extract residue-level embeddings that capture protein functionality. ATP-Pred also integrates a CNN-BiLSTM network and a Kolmogorov-Arnold network to build the prediction model. To handle data imbalance, we introduced a weighted focal loss function. Experimental results on three independent test data sets showed that ATP-Pred outperforms most existing methods. Its generalizability was further validated on four protein-mononucleotide binding residue data sets, where it delivered promising results. These findings suggest that ATP-Pred is a robust and reliable predictor.

06 Mar 2025·Brain

Human longevity and Alzheimer’s disease variants act via microglia and oligodendrocyte gene networks

Article

Author: Escott-Price, Valentina ; Magusali, Naciye ; Rambarack, Naiomi ; Yaman, Umran ; Hardy, John ; Botia, Juan A ; Graham, Andrew C ; Sala Frigerio, Carlo ; Salih, Dervis A ; Celikag, Meral ; Harwood, Janet C ; Bellou, Eftychia

AbstractAgeing underlies functional decline of the brain and is the primary risk factor for several neurodegenerative conditions, including Alzheimer’s disease (AD). However, the molecular mechanisms that cause functional decline of the brain during ageing, and how these contribute to AD pathogenesis, are not well understood.The objective of this study was to identify biological processes that are altered during ageing in the hippocampus and that modify Ad risk and lifespan, and then to identify putative gene drivers of these programmes. We integrated common human genetic variation associated with human lifespan or Ad from genome-wide association studies with co-expression transcriptome networks altered with age in the mouse and human hippocampus.Our work confirmed that genetic variation associated with Ad was enriched in gene networks expressed by microglia responding to ageing and revealed that they were also enriched in an oligodendrocytic gene network. Compellingly, longevity-associated genetic variation was enriched in a gene network expressed by homeostatic microglia whose expression declined with age. The genes driving this enrichment include CASP8 and STAT3, highlighting a potential role for these longevity-associated genes in the homeostatic functions of innate immune cells, and these genes might drive ‘inflammageing’. Thus, we observed that gene variants contributing to ageing and AD balance different aspects of microglial and oligodendrocytic function. Furthermore, we also highlight putative Ad risk genes, such as LAPTM5, ITGAM and LILRB4, whose association with Ad falls below genome-wide significance but show strong co-expression with known Ad risk genes in these networks. Indeed, five of the putative risk genes highlighted by our analysis, ANKH, GRN, PLEKHA1, SNX1 and UNC5CL, have subsequently been identified as genome-wide significant risk genes in a subsequent genome-wide association study with larger sample size, validating our analysis.This work identifies new genes that influence ageing and AD pathogenesis, and highlights the importance of microglia and oligodendrocytes in the resilience of the brain against ageing and AD pathogenesis. Our findings have implications for developing markers indicating the physiological age of the brain and new targets for therapeutic intervention.

01 Feb 2025·BMJ Case Reports

Highlighting the importance of X-ray diagnostics for targeted molecular genetic analysis in the diagnosis of rare autosomal dominant craniometaphyseal dysplasia

Article

Author: Friedova, Natalie ; Baxova, Alice ; Liska, Frantisek ; Sipek, Antonin

Autosomal dominant craniometaphyseal dysplasia (AD-CMD) is a rare condition defined by the occurrence of progressive diffuse hyperostosis of cranial bones and abnormal metaphyseal widening of the tubular bones.ANKHis known to be the only gene associated with AD-CMD. We present a case of a toddler boy with macrodolichocephaly, asymmetry of the skull, wide bulging forehead, gingival hypertrophy and irregular teeth. Physical examination, X-ray and DNA analysis were performed. All exons and flanking intron regions ofANKHwere amplified by PCR and directly sequenced using the Sanger method. X-ray images showed diffuse osteosclerosis in the area of facial skeleton and skull base. Limbs exhibited club-shaped enlargement of the distal metaphysis of the femur and the proximal metaphysis of the tibia were described. The DNA analysis showed that the patient is a heterozygous carrier of the known pathogenic in-frame deletion (rs121908406;ANKH:c.1122-4delCTC, p.Ser375del), which has already been described in patients with AD-CMD.

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SLC62 Pyrophosphate transporters

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