Results 191 to 200 of about 1,407,930 (315)

Human CNTNAP1 Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review

Muscle &Nerve, Volume 73, Issue 4, Page 517-526, April 2026.
ABSTRACT CNTNAP1 encodes the Contactin‐Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier.
Lacey B. Sell, Derek Garcia, Alexandra Hollá, Ilana Chilton, Seth DeVries, Ana María Gómez‐Moreno, Manuel Lubián‐Gutiérrez, Qian Shi, Manzoor A. Bhat   +8 more
wiley   +1 more source

Understanding the ketogenic diet [PDF]

Nature Medicine, 2020
openaire   +2 more sources

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, Volume 101, Issue 2, Page 751-803, April 2026.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

A Retrospective Cross‐Sectional Study of 142 Patients in a Multidisciplinary Tuberous Sclerosis Clinic

Clinical Genetics, Volume 109, Issue 4, Page 697-706, April 2026.
We found key differences between tuberous sclerosis patients with TSC1 and TSC2 variants. Patients carrying TSC2 variants had more severe and earlier‐onset symptoms. We also identified two distinct clinical subgroups which follow different disease courses: one characterized by predominant renal involvement and the other by more pronounced neurological ...
Hila Weisblum Neuman, Sara Via Dorembus, Omer Shlomovitz, Shoshana Greenberger, Einat Lahav, Sharon Mini‐Goldberger, Michal Tzadok   +6 more
wiley   +1 more source

Ketone Body Supplementation Exerts Renoprotective Effects Against Adenine‐Induced Kidney Injury via OXCT1‐Mediated Ketolysis in Mice

The FASEB Journal, Volume 40, Issue 6, 31 March 2026.
1,3‐Butanediol is a ketone body precursor that is directly converted into the ketone bodies, β‐hydroxybutyrate (BHB), in the liver. When renal ketolysis, regulated by 3‐oxoacid CoA‐transferase 1 (OXCT1), is preserved, BHB supplementation exerts renoprotective effects.
Shoji Omachi, Sho Sugahara, Junya Horiguchi, Mako Yasuda‐Yamahara, Shogo Kuwagata, Kosuke Yamahara, Yuki Tanaka‐Sasaki, Shogo Ida, Tetsuro Kusaba, Benjamin D. Humphreys, Kenji Kufukihara, Jin Nakahara, Masami Chin‐Kanasaki, Shinji Kume   +13 more
wiley   +1 more source

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 453-465, March 2026.
ABSTRACT Background Neurodegeneration with brain iron accumulation (NBIA) comprises a genetically and clinically heterogeneous group of rare neurological disorders characterized particularly by iron accumulation in the basal ganglia. To date, 15 genes have been associated with NBIA.
Seda Susgun, Ozgu Kizek, Sibel Aylin Ugur Iseri, Ibrahim Kamaci, Ayse Deniz Elmali, Pinar Iscen, Berfin Gulkaya Guzel, Gul Yalcin Cakmakli, Bulent Elibol, Berril Donmez, Raif Cakmur, Pinar Topaloglu, Turkish NBIA Study Group, Abdullah Acar, Ahmet Acarer, Arzu Karabay, Asuman Ali, Ayla Barlas, Aysegul Gunduz, Banu Ozen Barut, Baris Baslo, Bilge Kocer, Bilgehan Mus, Birsen Karaman, Burcu Gokce Cokal, Cem Ismail Kucukali, Cenk Akbostanci, Ceyhun Sayman, Cagla Turan, Dilek Ince Gunal, Ebru Bilge Dirik, Ebru Erzurumluoglu, Elif Kocasoy Orhan, Enes Demiryurek, Emrah Yucesan, Ercan Kose, Erdem Tuzun, Esen Saka Topcuoglu, Esra Okuyucu, Fatma Betul Ozdilek, Feriha Ozer, Gencer Genc, Gozde Unal, Gulay Kenangil, Gullu Tarhan, Gunes Kiziltan, Halil Onder, Hamit Genc, Hasmet Hanagasi, Hatice Yuksel, Hulya Apaydin, Koray Kirimtay, Mehmet Guney Senol, Melisa Kilic, Meltem Demirkiran, Mert Karaca, Miray Erdem, Muhammet Bilgehan Mus, Murat Gultekin, Nalan Capan, Nazan Karagoz Sakalli, Nazli Basak, Nihan Hande Akcakaya, Ozan Ezer, Ozge Uygun, Ozge Yilmaz Kuspeci, Ozgur Oztop Cakmak, Pervin Iseri, Petek Ballar Kirmizibayrak, Pinar Elkoca, Recep Alp, Remzi Yigiter, Rezzak Yilmaz, Sadika Ozdemir, Selda Keskin, Selen Ilhan Alp, Selen Soylu, Serdar Ceylaner, Serhat Ozkan, Sevda Erer Ozbek, Sevgin Gundogan, Sevil Yasufli, Sezin Alpaydin Baslo, Sibel Ertan, Sultan Cagirici, Seyma Aykac, Vuslat Yilmaz, Yaprak Secil, Yasar Kutukcu, Yeliz Ciftci, Yesim Sucullu Karadag, Yildiz Değirmenci, Zeliha Matur, Nerses Bebek, Murat Emre, Zuhal Yapici   +95 more
wiley   +1 more source

Effect of Using the Food Quotient as a Proxy of the Respiratory Quotient in the Calculation of Energy Expenditure by the Doubly Labeled Water Method in Older Adults

American Journal of Human Biology, Volume 38, Issue 3, March 2026.
ABSTRACT Background and Aims Accurate measurement of total energy expenditure (TEE) is critical for maintaining energy balance and body weight. This study aimed to analyze differences in TEE assessed by the doubly labeled water method (DLW‐TEE), using food quotient (FQ) derived from self‐reported 24‐h dietary recalls, respiratory quotient measured by ...
Dennis Gustavo Alves de Mello, Luiz Antonio dos Anjos, Michele Novaes Ravelli, Eduardo Ferriolli, Karina Pfrimer   +4 more
wiley   +1 more source

A ketogenic diet enhances aerobic exercise adaptation and promotes muscle mitochondrial remodeling in hyperglycemic male mice. [PDF]

Nat Commun
Pattamaprapanont P, Nava RC, Grover R, Formato M, Cooney EM, Pinto AP, Alves-Wagner AB, Das A, Guan Y, Annambhotla M, Acharya S, Rivas DA, Lessard SJ.   +12 more
europepmc   +1 more source

Bile acids are associated with baseline and longitudinal amyloid and tau pathology in patients with Alzheimer's disease

Alzheimer's &Dementia, Volume 22, Issue 3, March 2026.
Abstract INTRODUCTION Alzheimer's disease (AD), a neurodegenerative disease, involves early alterations in the gut microbiota. Bile acids (BAs), which are metabolites produced by the microbiota, may impact brain function through the gut‐brain axis. METHODS By reference to multimodal datasets from the Chinese Preclinical Alzheimer's Disease Study (n ...
Wenjie Fu, Xiaowen Chao, Ying Wang, Shu Liu, Jie Wang, Qi Huang, Ying Luan, Peiyang Luo, Yihui Guan, Yingren Mai, Wei Jia, the Alzheimer's Disease Neuroimaging Initiative, Qihao Guo, Tianlu Chen, Xiaowei Ma, Fang Xie   +15 more
wiley   +1 more source

Bibliometric analysis of ketogenic diet for pain based on dual databases: global trends and research hotspots from the Web of Science Core Collection and Scopus (2006-2025). [PDF]

Front Nutr
Liao M, Cheng X, Liu F, Xiong X, Yu Y.
europepmc   +1 more source