Results 61 to 70 of about 24,062 (183)

Mutation type‐specific transcriptomic signatures and readthrough therapy rescue in SMC1A‐related developmental and epileptic encephalopathy

Epilepsia, Volume 67, Issue 6, Page 3185-3198, June 2026.
Abstract Objective This study was undertaken to investigate the molecular consequences of pathogenic variants in the SMC1A gene—particularly those associated with developmental and epileptic encephalopathy (DEE85)—and to evaluate the therapeutic potential of ataluren in restoring SMC1A function and mitigating disease‐related transcriptomic and genomic ...
Maddalena Di Nardo, Francesca Sardina, Maria M. Pallotta, Iñigo Marcos‐Alcalde, Paulino Gómez‐Puertas, Cinzia Rinaldo, Ian D. Krantz, Antonio Musio   +7 more
wiley   +1 more source

Chronic Cholestatic Liver Disease Induced by Larval Ascariasis: Novel Insights Into Immune‐Mediated Pathogenesis and Hepatic Fibrosis in Mice

The FASEB Journal, Volume 40, Issue 10, 31 May 2026.
Liver alterations induced by single infection (SI) or reinfection (RE) with 250 or 2500 Ascaris suum eggs in mice. Histological analysis shows inflammatory cell infiltration (eosinophils, lymphocytes, macrophages, and neutrophils), fibrotic areas, and bile duct proliferation in infected animals compared with uninfected controls.
Jorge Lucas Nascimento Souza, Chiara Cássia Oliveira Amorim, Ana Rafaela Antunes‐Porto, Fernanda Rezende Souza, Evelyn Ane Oliveira, Izabela da Silva Oliveira, Isabela de Brito Duval, Andressa Mariana Saldanha‐Elias, Marcelo Eduardo Cardozo, Ramayana Morais de Medeiros Brito, Luisa Mourão Dias Magalhães, Geovanni Dantas Cassali, Neima Briggs, Ricardo Toshio Fujiwara, Remo Castro Russo, Guilherme Grossi Lopes Cançado, Lilian Lacerda Bueno   +16 more
wiley   +1 more source

Targeting TNBC: core–shell polycationic polyurea dendrimers with inherent anticancer activity

FEBS Open Bio, Volume 16, Issue 5, Page 944-965, May 2026.
Core–shell polycationic PURE dendrimers were tested in TNBC‐derived tumor models. Both formulations selectively targeted TNBC and effectively reduced tumor volume. PUREG4‐OEI48 suppressed tumor growth without detectable toxicity, whereas PUREG4‐OCEI24, despite showing efficacy, induced hepatic toxicity.
Adriana Cruz, Bruna Abreu, Cindy Mendes, Catarina Freitas‐Dias, Filipe Gonçalves, Fernanda Silva, José Ramalho, Saudade André, Vasco D. B. Bonifácio, Jacinta Serpa   +9 more
wiley   +1 more source

Metabolic and neurobehavioral disturbances induced by purine recycling deficiency in Drosophila

eLife
Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans.
Céline Petitgas, Laurent Seugnet, Amina Dulac, Giorgio Matassi, Ali Mteyrek, Rebecca Fima, Marion Strehaiano, Joana Dagorret, Baya Chérif-Zahar, Sandrine Marie, Irène Ceballos-Picot, Serge Birman   +11 more
doaj   +1 more source

Metabolic constraint of human telomere length by nucleotide salvage efficiency

Nature Communications
Human telomere length is tightly regulated and associated with diseases at either extreme, but how these bounds are established remains incompletely understood.
William Mannherz, Andrew Crompton, Noah Lampl, Suneet Agarwal   +3 more
doaj   +1 more source

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay

Frontiers in Genetics
Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng, Haoyang Zheng, Haoyang Zheng, Gui Chen, Gui Chen, Gui Chen, Tingting Wang, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Fang Liu, Fang Liu, Fang Liu, Yuanhong Xu, Yuanhong Xu, Yuanhong Xu   +24 more
doaj   +1 more source

Xanthine calculi in a patient with Lesch-Nyhan syndrome and factor V Leiden treated with allopurinol: case report

BMC Pediatrics, 2018
Background Lesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Lisa B. E. Shields, Dennis S. Peppas, Eran Rosenberg   +2 more
doaj   +1 more source

A Golgi study of neuronal architecture in a genetic mouse model for Lesch–Nyhan disease

Neurobiology of Disease, 2005
Lesch–Nyhan disease (LND) is an inherited disorder associated with deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT), an enzyme essential for purine recycling.
Ivan Mikolaenko, Lekha M. Rao, Rosalinda C. Roberts, Bryan Kolb, H.A. Jinnah   +4 more
doaj   +1 more source

Targeted Nucleotide Substitution in Mammalian Cell by Target-AID

Bio-Protocol, 2017
Programmable RNA-guided nucleases based on CRISPR (clustered regularly interspaced short palindromic repeats)-Cas (CRISPR-associated protein) systems have been applied to various type of cells as powerful genome editing tools. By using activation-induced
Takayuki Arazoe, Keiji Nishida, Akihiko Kondo   +2 more
doaj   +1 more source

Data supporting the design and evaluation of a universal primer pair for pseudogene-free amplification of HPRT1 in real-time PCR

Data in Brief, 2015
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan, Akbar Hedayatizadeh-Omran, Mahdyieh Naghavi Alhosseini-Abyazani, Omolbanin Amjadi, Alireza Rafiei, Mohsen Tehrani, Reza Alizadeh-Navaei   +6 more
doaj   +1 more source