[HTML][HTML] Inborn errors of purine salvage and catabolism

M Camici, M Garcia-Gil, S Allegrini, R Pesi… - Metabolites, 2023 - mdpi.com
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover
and, only marginally, from dietary intake. They are subjected to catabolism, eventually …

Perspectives and challenges in developing small molecules targeting purine nucleoside phosphorylase

Y Chen, Y Li, J Gao, Q Yu, Y Zhang, J Zhang - European Journal of …, 2024 - Elsevier
As a cytosolic enzyme involved in the purine salvage pathway metabolism, purine
nucleoside phosphorylase (PNP) plays an important role in a variety of cellular functions but …

Tissue proteome analysis revealed an association between cancer, immune system response, and the idiopathic granulomatous mastitis

MGB Albayrak, T Simsek, M Kasap, G Akpinar… - Medical Oncology, 2022 - Springer
Abstract Idiopathic Granulomatous Mastitis (IGM) is a disease that clinically mimics breast
cancers with symptoms of pain, edema, erythema, nipple discharge, nipple retraction, and …

[HTML][HTML] Prolonged administration of total glucosides of paeony improves intestinal immune imbalance and epithelial barrier damage in collagen-induced arthritis rats …

R Xu, J Peng, Z Ma, K Xie, M Li, Q Wang… - Frontiers in …, 2023 - frontiersin.org
Rheumatoid arthritis (RA) is a chronic systemic autoimmune disease characterized by
synovial inflammation and joint damage with complex pathological mechanisms. In recent …

[HTML][HTML] Immunodeficiency and autoimmunity: companions not opposites

DA Fox - The Journal of Clinical Investigation, 2022 - Am Soc Clin Investig
Autoimmunity has long been regarded as the polar opposite of immunodeficiency, but
clinical and experimental evidence refute this notion. Indeed, numerous inborn or acquired …

[HTML][HTML] Databases of ligand-binding pockets and protein-ligand interactions

KA Carpenter, RB Altman - Computational and Structural Biotechnology …, 2024 - Elsevier
Many research groups and institutions have created a variety of databases curating
experimental and predicted data related to protein-ligand binding. The landscape of …

Neurologic status of patients with purine nucleoside phosphorylase deficiency before and after hematopoetic stem cell transplantation

BG Karaaslan, I Turan, S Aydemir, ZA Meric… - Journal of Clinical …, 2023 - Springer
Background Purine nucleoside phosphorylase (PNP) deficiency is a rare autosomal
recessive combined immunodeficiency. The phenotype is profound T cell deficiency with …

Neurological presentations of inborn errors of purine and pyrimidine metabolism

MC Nassogne, S Marie, JP Dewulf - European Journal of Paediatric …, 2023 - Elsevier
Purines and pyrimidines are essential components as they are the building blocks of vital
molecules, such as nucleic acids, coenzymes, signalling molecules, as well as energy …

[HTML][HTML] Purine Nucleoside Phosphorylase Deficiency in Two Unrelated Patients with Autoimmune Hemolytic Anemia and Eosinophilia: Two Novel Mutations

Z Alizadeh, M Badalzadeh, H Heydarlou… - Archives of Iranian …, 2023 - ncbi.nlm.nih.gov
Two Iranian patients with purine nucleoside phosphorylase (PNP) deficiency are described
in terms of their clinical and molecular evaluations. PNP deficiency is a rare form of …

Purine Nucleoside Phosphorylase Deficient Severe Combined Immunodeficiencies: A Case Report and Systematic Review (1975–2022)

SM Habib Dzulkarnain, IF Hashim… - Journal of Clinical …, 2023 - Springer
Purine nucleoside phosphorylase deficient severe combined immunodeficiency (PNP SCID)
is one of the rare autosomal recessive primary immunodeficiency disease, and the data on …