Results 71 to 80 of about 8,559 (195)

Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy

Annals of Neurology, Volume 100, Issue 3, Page 655-671, September 2026.
Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos, Jevin M. Parmar, Robin Wijngaard, Bianca R. Grosz, Tamas Lazar, Ligia Mateiu, Steve Vucic, Kishore R. Kumar, Dennis Yeow, Laura I. Rudaks, Lonneke de Boer, Annemarie de Vreugd, David A. Koolen, Thatjana Gardeitchik, Anita Cairns, Krishnan Iyengar, Fernando Kok, Fernanda Barbosa Figueiredo, Alzira Alves de Siqueira Carvalho, Luiz S. Mageste Barbosa, Rodrigo Rezende Arantes, Tyler Rehbein, Jordan E. Bontrager, Elizabeth P. Wood, Janet E. Sowden, Gavin Monahan, Meutia Kumaheri, Ivy Cuijt, Melina Ellis, Gonzalo Perez‐Siles, Elyshia McNamara, Ronald van Beek, Celine B. Meijers, Ivaylo Tournev, Stephan Zuchner, Shoshana J. Wodak, Clara D. M. van Karnebeek, Nigel Laing, Liana N. Semcesen, David A. Stroud, David N. Herrmann, Velina Guergueltcheva, Marina L. Kennerson, Machteld M. Oud, Gianina Ravenscroft, Ayse Candayan, Albena Jordanova   +46 more
wiley   +1 more source

Starving Intestinal Inflammation with the Amino Acid Sensor GCN2 [PDF]

Cell Metabolism, 2016
Metabolic stressors are emerging as important controls over immune system function. In a recent paper, Ravindran et al. (2016) uncovered a novel mechanism by which an amino acid sensing pathway controls inflammation in the gut.
Xavier S, Revelo, Shawn, Winer, Daniel A, Winer   +2 more
openaire   +2 more sources

Amino Acid Metabolism in Health and Disease

MedComm, Volume 7, Issue 9, September 2026.
This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su, Jinyu Liu, Xiaoliang Deng, Yanqun Luo, Haiping Xue, Lei Wang, Lianjun Xing, Tao Wu   +7 more
wiley   +1 more source

The GCN2 inhibitor IMPACT contributes to diet-induced obesity and body temperature control.

PLoS ONE, 2019
IMPACT, a highly conserved protein, is an inhibitor of the eIF2α kinase GCN2. In mammals, it is preferentially expressed in neurons. Knock-down of IMPACT expression in neuronal cells increases basal GCN2 activation and eIF2α phosphorylation and decreases
Catia M Pereira, Renato Filev, Francisco P Dubiela, Bruna B Brandão, Claudio M Queiroz, Raissa G Ludwig, Debora Hipolide, Beatriz M Longo, Luiz E Mello, Marcelo A Mori, Beatriz A Castilho   +10 more
doaj   +1 more source

The ribosomal P-stalk couples amino acid starvation to GCN2 activation in mammalian cells

eLife, 2019
The eukaryotic translation initiation factor 2α (eIF2α) kinase GCN2 is activated by amino acid starvation to elicit a rectifying physiological program known as the Integrated Stress Response (ISR).
Heather P Harding, Adriana Ordonez, Felicity Allen, Leopold Parts, Alison J Inglis, Roger L Williams, David Ron   +6 more
doaj   +1 more source

Gut Microbiota, Immunity, and Metabolism in the Progression From Chronic Liver Disease to Hepatocellular Carcinoma

Advanced Science, Volume 13, Issue 44, 7 August 2026.
This review explains how chronic liver injury progresses toward hepatocellular carcinoma through interconnected changes in gut microbes, metabolism, immunity, fibrosis, and diet. It highlights microbial metabolites, bile‐acid signaling, immune dysfunction, and nutritional or microbiome‐based interventions as opportunities to identify risk earlier ...
Yi Hu, Caiyan Lin, Lijie Zhang, Xue Jiang, Huawen Li, Yangzhe Wu   +5 more
wiley   +1 more source

The Impact of GCN2 on Lifespan and Proteomic Changes in Drosophila Under Phenylalanine Deprivation [PDF]

openLa dieta gioca un ruolo cruciale nell'invecchiamento, influenzando sia la salute che la durata della vita attraverso meccanismi biologici evolutivamente conservati.
FORTE, MATTEO
core  

GCN2 regulates paclitaxel‐induced neuropathic pain

British Journal of Pharmacology
Background and Purpose Neuropathic pain is debilitating and pervasive. Chemotherapeutic agents commonly induce chronic neuropathic pain. Paclitaxel is a prototypical example, causing painful peripheral neuropathy in a majority of patients.
Mikesell, Alexander R., Meyer, Angela R., García, Guadalupe, Frietze, Luke R., Stucky, Cheryl L., Pan, Tao, Campbell, Zachary T.   +6 more
openaire   +3 more sources

The metabolic‐immune hub: Dual roles of indoleamine 2,3‐dioxygenase in the acute kidney injury‐to‐chronic kidney disease transition and therapeutic perspectives

Clinical and Translational Discovery, Volume 6, Issue 4, August 2026.
1. Indoleamine 2,3‐dioxygenase (IDO) acts as a time‐dependent metabolic–immune switch in the acute kidney injury‐to‐chronic kidney disease transition, protective early but pathogenic when sustained. 2. Early protection (regulatory T cell expansion, M2 polarisation and ferroptosis suppression) gives way to general control nonderepressible 2‐driven ...
Ziyi Qiu, Binbin Pan
wiley   +1 more source

Black Sheep: Pseudokinases Bucking the Trend to Reveal Non‐Catalytic Kinase Functions

IUBMB Life, Volume 78, Issue 8, August 2026.
ABSTRACT Pseudokinases are the catalytically‐dead counterparts of protein kinases and, over the past 20 years, have increasingly garnered attention as crucial signaling entities—comprehensively dispelling the possibility that they are merely evolutionary remnants or cellular passengers.
James M. Murphy, Natalia Jura, Peter D. Mace   +2 more
wiley   +1 more source