Results 91 to 100 of about 30,339 (261)

Function and expression of N-acetyltransferases 1 and 2 are altered in lymphocytes in type 2 diabetes and obesity

Biochemistry and Biophysics Reports
The cytosolic enzymes N-Acetyl Transferases 1 and 2 (NATs) transfer an acetyl group from acetyl-CoA to a xenobiotic substrate. NATs are regulated at the genetic and epigenetic levels by deacetylase enzymes such as sirtuins.
Víctor Alejandro Paz-Rodríguez, Diana Judith Herrera-Vargas, Eneida Turiján-Espinoza, Miguel Ernesto Martínez-Leija, Emmanuel Rivera-López, Oswaldo Hernández-González, Daniel Zavala-Reyes, Mariana Haydee García-Hernández, Juan Manuel Vargas-Morales, Rosa del Carmen Milán-Segovia, Diana Patricia Portales-Pérez   +10 more
doaj   +1 more source

Characterization of NAT2 Using Long‐Read Sequencing: Allele, Diplotype, and Phenotype Call Accuracy Compared to Other Testing Strategies

Clinical Pharmacology &Therapeutics, EarlyView.
The NAT2 pharmacogene is essential in drug metabolism, particularly for aromatic amines and hydrazines. Genetic variations in NAT2 categorize individuals as rapid, intermediate, or poor metabolizers based on their acetylation capacity to inform dosing guidelines.
Shobana John, Erin C. Boone, Byunggil Yoo, Laura B. Ramsey, Andrea Gaedigk   +4 more
wiley   +1 more source

Proteomic profiling of Elp1‐deficient trigeminal ganglia reveals disruption of neurotrophic and metabolic pathways in a familial dysautonomia mouse model

Developmental Dynamics, EarlyView.
Abstract Background Elp1, a subunit of the Elongator complex, is essential for tRNA modification and neuronal development. Mutations in ELP1 underlie familial dysautonomia (FD), a disorder marked by sensory and autonomic neuropathy. While loss of Elp1 disrupts trigeminal ganglion formation and survival, the downstream molecular consequences remain ...
Carrie E. Leonard, Lauren Clarissa Tang, Beatrix Ueberheide, Lisa A. Taneyhill   +3 more
wiley   +1 more source

Pyruvate dehydrogenase autoantibodies in autoantibody‐negative patients with seizures are associated with reduced pyruvate dehydrogenase activity

Epilepsia, EarlyView.
Abstract Objective We investigated the presence and potential functional relevance of antimitochondrial autoantibodies in patients suspicious for autoimmune encephalitis (AIE) associated with psychiatric symptoms and/or seizures, who were negative for known antineuronal autoantibodies.
Annika Breuer, Chiara A. Hummel, Tobias Baumgartner, Juliane L. Berns, Afaf Milad Said, Isabel Bünger, Susanne Schoch, Gábor Zsurka, Harald Prüss, Wolfram S. Kunz, Rainer Surges, Albert J. Becker, Julika Pitsch   +12 more
wiley   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, EarlyView.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Neurolathyrism in Sub‐Saharan Africa—Assessing the Neurotoxic Risks of Lathyrus sativus Amid Drought and Food Security Challenges

Food Safety and Health, EarlyView.
Representation of grass pea consumption in drought‐stricken sub‐Saharan Africa sustains nutrition, but excess β‐ODAP exposure due to multiple reasons triggers neurolathyrism, a progressive neurotoxic disorder. ABSTRACT Neurolathyrism is a progressive motor neuron disease due to the consumption of Lathyrus sativus (grass pea) over long periods.
Biruk Demisse Ayalew, Muhammad Umar, Pakeezah Tabasum, Maria Qadri, Talha Farooq, Eskeatnaf Yosef Getachew, Zemichael Getu Alemayehu, Eden Haile Hagos, Hailemariam Shimelis Gebeyehu, Hanna Tsehay Abebe, Nuradin Abdi Ali, David Chinaecherem Innocent, Temesgen Mamo Sharew   +12 more
wiley   +1 more source

Hyperacetylated histone H4 is a source of carbon contributing to lipid synthesis

The EMBO Journal
Histone modifications commonly integrate environmental cues with cellular metabolic outputs by affecting gene expression. However, chromatin modifications such as acetylation do not always correlate with transcription, pointing towards an alternative ...
Evelina Charidemou, Roberta Noberini, Chiara Ghirardi, Polymnia Georgiou, Panayiota Marcou, Andria Theophanous, Katerina Strati, Hector Keun, Volker Behrends, Tiziana Bonaldi, Antonis Kirmizis   +10 more
doaj   +1 more source

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source