Results 181 to 190 of about 37,743 (283)

Aminoacyl‐tRNA Synthetases: Variant Classification, Functional Assays, and Emerging Therapeutic Strategies

Journal of Inherited Metabolic Disease, Volume 49, Issue 3, May 2026.
ABSTRACT Aminoacyl‐tRNA synthetases (aaRS) are essential enzymes that charge tRNAs with their corresponding amino acids, playing a critical role in protein synthesis. All 37 nuclear‐encoded ARS genes, comprising both cytosolic (ARS1) and mitochondrial (ARS2) isoforms, have now been linked to human disease.
M. I. Mendes, D. E. Smith, V. Spek, A. M. Bosch, W. E. Corpeleijn, M. Engelen, S. A. Fuchs, A. Hadchouel, I. U. Heinemann, R. H. Houtkooper, E. M. M. Hoytema van Konijnenburg, S. Kemp, M. Langeveld, C. D. M. Karnebeek, A. Pop, V. M. Siu, N. I. Wolf, G. S. Salomons   +17 more
wiley   +1 more source

In vivo assessment of the recovery of myocardial pyruvate dehydrogenase activity following a ketogenic diet. [PDF]

Cardiovasc Res
Chen J, Erfani Z, Elnwasany A, Al Nemri S, Park J, Huynh MT, Zaidi M, Harrison CE, Wen X, Szweda LI, Park JM.   +10 more
europepmc   +1 more source

Liver Stiffness Characterization of OGTLKO Mouse Model of Progressive Liver Fibrosis

Journal of Ultrasound in Medicine, Volume 45, Issue 5, Page 1069-1082, May 2026.
Objectives O‐GlcNAcylation plays a key regulatory role in hepatic physiology, and its disruption leads to fibrosis in liver‐specific OGT knockout mice (OGTLKO), making this model valuable for studying advanced metabolic dysfunction‐associated steatohepatitis (MASH).
Gilles Renault, Lenin Chinchilla, Lourdes Massengo, Pierre Monbernard, Fadila Benhamed, Marion Regnier, Raphael Denis, Catherine Postic, Anthony Novell, Jean‐Luc Gennisson   +9 more
wiley   +1 more source

Nutritional strategies in abdominal surgery: the potential of ketogenic diet. [PDF]

Front Nutr
Xu L, Li X, Cao C.
europepmc   +1 more source

Introduction to Pediatric Epilepsy for Neuropsychology Students: A Literature Review [PDF]

, 2009
Silva, Marc A.
core   +1 more source

Intratumoral Microorganisms in Tumors: Current Understanding and Emerging Therapeutic Strategies

MedComm, Volume 7, Issue 5, May 2026.
Tumors are no longer viewed as sterile but dynamic ecosystems harboring low‐biomass intratumoral microbiota. These microbes, derived from gut, oral cavity, or circulation, shape tumorigenesis and therapy response via core mechanisms: immunomodulation (regulating T cells, macrophages), metabolic reprogramming (SCFAs, indoles, bile acids), chronic ...
Haoling Zhang, Zengkan Du, Ping Lu, Aimin Jiang, Yadong Guo, Yawei Liu, Zhijing Song, Bing Dai, Wangzheqi Zhang   +8 more
wiley   +1 more source

Effects of the ketogenic diet on skin-potential benefits and risks. [PDF]

Front Nutr
Chylińska N, Maciejczyk M.
europepmc   +1 more source

Chronic Pain: Epidemiology, Pathophysiology, and Clinical Management

MedComm, Volume 7, Issue 5, May 2026.
The multidimensional nature of chronic pain is illustrated through four interconnected domains. (Left) Epidemiology and Global Burden: Chronic pain affects approximately one in five individuals globally, contributing to a rising trend in disability‐adjusted life years (YLDs) and a significant socioeconomic impact.
Zhihao Shang, Zijiao Tian, Zhaoquan Wang, Zerui Yang, Ziyao Wang, Zikang Wang, Ziqing Wang, Xingyuan He, Yu Yan, Yuanfeng Gong, Siyuan Xu, Xinyi Li, Guihua Tian   +12 more
wiley   +1 more source

Identification of a Novel Homozygous SCN1B Splice‐Site Variant in a Consanguineous Families With Early‐Onset Epilepsy: A Case Series and Review of Literature

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Exome Sequencing identified SCN1B splice site variant in two unrelated consanguineous Pakistani families. (A) Pedigree chart of a family. Circles represent females, squares represent males. Filled symbols represent affected status. Genotype is mentioned below the symbols.
Anees Muhammad, Shafaq Ramzan, Hammad Yousaf, Rafia Zafar Ghumman, Farhan Bahadar Ali, Muhammad Athar Khalily, Asmat Ali, Wajid Ali, Salma Zia, Najeeb Ullah Khan, Muhammad Tahir Sarwar, Matias Toft, Zafar Iqbal, Ambrin Fatima   +13 more
wiley   +1 more source

The ketogenic diet is not for everyone: contraindications, side effects, and drug interactions. [PDF]

Ann Med
Dyńka D, Rodzeń Ł, Rodzeń M, Łojko D, Karakuła-Juchnowicz H, Ede G, Grzywacz Ż, Antosik K, Sethi S, Unwin D.   +9 more
europepmc   +1 more source