Results 201 to 210 of about 211,543 (281)

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

Quantitative analysis of inhibitor-induced assembly disruption in human UDP-GlcNAc 2-epimerase using mass photometry. [PDF]

Protein Sci
Boback N, López JG, Hackenberger CPR, Di Lella S, Lauster DC.   +4 more
europepmc   +1 more source

Uptake of DPYD and UGT1A1 testing in Italy and adherence to pharmacogenetic guidelines: A 5‐year perspective from an EQA provider

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 445-456, February 2026.
Aims Pharmacogenetic implementation requires awareness of the state‐of‐the‐art practice of laboratories providing pharmacogenetic testing. This study investigated how pharmacogenetic guidelines and recommendations have been implemented over time by Italian laboratories participating in the external quality assessment (EQA) Pharmaco‐scheme established ...
Rossana Roncato, Samantha Perfler, Diletta Pasin, Elena Peruzzi, Michael Woodcock, Henry Thomas, Rebecca Goodall, Simon J. Patton, Erika Cecchin   +8 more
wiley   +1 more source

<i>SLC35A2</i>-Related Brain Disorders: Genetics, Pathophysiology, and Therapeutic Insights. [PDF]

Int J Mol Sci
Risso B, Riva A, Volpedo G, Conti V, di San Carlo CT, Zara F, Striano P, Falace A.   +7 more
europepmc   +1 more source

Population pharmacokinetics of artemether–lumefantrine plus amodiaquine in patients with uncomplicated Plasmodium falciparum malaria

British Journal of Clinical Pharmacology, Volume 92, Issue 2, Page 589-605, February 2026.
Aims Resistance to the artemisinins and the artemisinin‐based combination therapy (ACT) partner drugs has developed in Southeast Asia, and artemisinin resistance has also emerged in eastern Africa. Triple ACTs (triple artemisinin‐based combination therapies, TACT), consisting of two partner drugs with different mechanisms of action and similar ...
Junjie Ding, Richard M. Hoglund, Rob W. van der Pluijm, James J. Callery, Thomas J. Peto, Rupam Tripura, Sukanta Das, Nguyễn Hoàng Châu, Cholrawee Promnarate, Mavuto Mukaka, Lek Dysoley, Caterina Fanello, Marie A. Onyamboko, Anupkumar R. Anvikar, Mayfong Mayxay, Frank Smithuis, Lorenz von Seidlein, Mehul Dhorda, Chanaki Amaratunga, M. Abul Faiz, Ho Dang Trung Nghia, Nicholas J. White, Nicholas P. J. Day, Arjen M. Dondorp, Joel Tarning   +24 more
wiley   +1 more source

Deploying TinyML for energy-efficient object detection and communication in low-power edge AI systems. [PDF]

Sci Rep
Bhushan CM, Koppuravuri P, Prasanthi N, Gazi F, Hussain MM, Abdussami M, Devi AA, Faizi J.   +7 more
europepmc   +1 more source

UDP-glucose and MRS2905 agonist-bound states of the purinergic P2Y₁₄ receptor. [PDF]

Commun Biol
Fay JF, Kousouros J, Gao ZG, Pavan M, Oliva P, Pramanik A, Meyer C, Kurma SH, Xu W, Krumm B, Jacobson KA.   +10 more
europepmc   +1 more source

Elucidation of Proteoforms of Chinese Hamster Ovary (CHO) Phospholipase B‐Like 2 (PLBL2) Captured From a Monoclonal Antibody

Biotechnology and Bioengineering, Volume 123, Issue 2, Page 406-419, February 2026.
A platform approach to the affinity capture and enrichment of host cell proteins to enable their subsequent deep characterization and elucidation of variants or proteoforms (e.g., molecular size variants, charge variants, glycoforms, etc.). ABSTRACT Removing host cell proteins (HCPs) during biotherapeutic manufacturing is essential to ensure patient ...
Michael E. Dolan, Lei (Leo) Wang, Alexander Tedeschi, Yan Wang, Christopher Barton, Sheldon F. Oppenheim, Zhaohui Sunny Zhou   +6 more
wiley   +1 more source

LBX2 promotes colorectal cancer progression via the glycosylation and lactylation positive feedback. [PDF]

Cell Death Discov
Jiang Y, Wang L, Chen L, Shen K, Chang J, Zheng S, Chen Z, Ge C, Yu M, Yu S, Lin H.   +10 more
europepmc   +1 more source

Serotonergic Neuromodulation of Natural Products Isoreserpine and Isoreserpiline in Adult Zebrafish: An in Silico and In Vivo Investigation

Chemistry &Biodiversity, Volume 23, Issue 2, February 2026.
ABSTRACT Anxiety is a multidimensional behavioral disorder widely studied in neuroscience due to the involvement of specific neural circuits. Although benzodiazepines are commonly used, their side effects drive the search for new therapeutic alternatives.
Nádia Aguiar Portela Pinheiro, Ivana Carneiro Romão, Amanda Maria Barros Alves, Sônia Maria Costa Siqueira, Jane Eire Silva Alencar de Menezes, Emmanuel Silva Marinho, Maria Kueirislene Amâncio Ferreira, Márcia Machado Marinho, Herbert de Sousa Magalhães, Andreia Ferreira de Castro Gomes, Otília Deusdênia Loiola Pessoa, Hélcio Silva dos Santos   +11 more
wiley   +1 more source