Results 81 to 90 of about 2,887,246 (174)

Ergothioneine: Biosynthesis, Molecular Mechanisms, Physiological Function, and Role in Disease

MedComm, Volume 7, Issue 9, September 2026.
Ergothioneine is a natural thione antioxidant with significant biomedical potential. By reducing oxidative stress, inflammation, mitochondrial dysfunction, and cellular injury, ergothioneine may support interventions for aging‐related disorders, neurodegeneration, metabolic diseases, and skin protection.
Guojuan Yi, Dongping Yao, Chanjuan Dong, Xiao Tu, Guojian Liao, Mengfei Long, Yongmei Xie   +6 more
wiley   +1 more source

Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy [PDF]

Annals of Neurology, 2014
ObjectiveA high incidence of structural brain abnormalities has been reported in individuals with pyridoxine‐dependent epilepsy (PDE). PDE is caused by mutations inALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown.
Laura A, Jansen, Robert F, Hevner, William H, Roden, Si Houn, Hahn, Sunhee, Jung, Sidney M, Gospe   +5 more
openaire   +2 more sources

Rethinking GABAergic therapy in neonatal seizures: Beyond Scylla and Charybdis

Epilepsia Open, EarlyView.
Raffaele Falsaperla, Vincenzo Sortino, Georgia Ramantani   +2 more
wiley   +1 more source

The gut microbiome organ

iMeta, Volume 5, Issue 4, August 2026.
The gut microbiome can be conceptualized as a distributed organ‐like functional system with spatially structured organization, broad biochemical capacity, and continuous bidirectional communication with the host. By transforming dietary, host‐derived, and environmental substrates into bioactive metabolites with endocrine‐like, immunomodulatory, and ...
Yang Bi, Weibin Song, Maria Glymenaki, Jie Hu, Xiru Li, Heng Huang, Yousong Peng, Shuaishuai Ni, Ornuma Haonon, Zhu Liu, Krai Daowtak, Xiaotao Shen, Huadong Peng, Jutarop Phetcharaburanin, Huiru Tang, Yulan Wang, Jia V. Li, Mizu Jiang, Nick Powell, Victor W. Zhong, Elaine Holmes, Yunlei Xianyu, Zhigang Liu   +22 more
wiley   +1 more source

Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency

JIMD Reports, 2020
Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐aminoadipic ...
Maina P. Kava, Leah Bryant, Peter Rowe, Barry Lewis, Lawrence Greed, Shanti Balasubramaniam   +5 more
doaj   +1 more source

Astrocytes in Genetic Epilepsies: Supporting Actor or Key Player?

Journal of Neuroscience Research, Volume 104, Issue 8, August 2026.
Astrocytes contribute to the pathophysiology of acquired epilepsy. However, less is known about their contribution to genetic epilepsy syndromes which often exhibit frequent comorbidity with neurodevelopmental and psychiatric disorders. Epileptic seizures are also frequently present in neurodevelopmental disorders.
Jenny Lange, Erica Zhao, Ellie O'Connell, Olivia Gillham, Amy McTague   +4 more
wiley   +1 more source

Intractable epilepsy in South African children based on criteria defined by the international league against epilepsy (ILAE) [PDF]

, 2011
Includes abstract.
Alkhaldi, Hani M
core   +1 more source

Novel Clinical and Neurophysiological Insights in Neonatal‐Onset 3‐Methylglutaconic Aciduria Type VIII due to HTRA2 Mutations

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
This report expands the limited available data on type VIII 3‐methylglutaconic aciduria (MGCA8), a neurodegenerative disorder which involves biallelic pathogenic variants of HTRA2 gene. The mutation of this gene leads to mitochondrial dysfunction and altered apoptosis regulation, especially in the brain.
Barbara Belmessieri, Sara Brunetti, Laura Malerba, Paola Martelli, Lucio Giordano, Massimo Plumari, Edoardo Errichiello, Patrizia Accorsi   +7 more
wiley   +1 more source

The EEG response to pyridoxine-IV neither identifies nor excludes pyridoxine-dependent epilepsy [PDF]

, 2010
Contains fulltext : 89020.pdf (Publisher’s version ) (Open Access)PURPOSE: Pyridoxine-dependent epilepsy (PDE) is characterized by therapy-resistant seizures (TRS) responding to intravenous (IV) pyridoxine.
Hoeven, J.H. van, de Coo, I.F., Hagebeuk, Eveline E, Maurits, Natasha M, Teune, Laura K., Willemsen, M.A.A.P., Sival, Deborah A., Hoeven, J.H. van der, Toet, MC, Maurits, NM, Jakobs, Cornelis, Jakobs, C, Teune, Laura K, Bwee Tien Poll-The, Brouwer, Oebele F., Willemsen, MA, Sival, D.A., Willemsen, Michèl A, van der Hoeven, J.H., Brouwer, O.F., Poll-The, B.T., Irenaeus F. De Coo, Hagebeuk, EE, Bok, LA, Bok, Levinus A, Poll-The, B., Bok, Levinus A., Laura K. Teune, Johannes H. Van Der Hoeven, Brouwer, Oebele F, Teune, L.K., Toet, Mona C, Toet, Mona C., Natasha M. Maurits, Sival, Deborah A, van der Hoeven, Johannes H, Levinus A. Bok, Toet, M.C., Coo, I.F.M. de, Coo, I.F. de, Oebele F. Brouwer, Brouwer, OF, Hagebeuk, E.E., de Coo, Irenaeus F., Poll-The, BT, Sival, DA, Maurits, Natasha M., Hagebeuk, Eveline E., de Coo, Irenaeus F, Willemsen, Michèl A., Eveline E. Hagebeuk, Poll-The, Bwee Tien, Mona C. Toet, Coo, IFM, Teune, LK, Jakobs, C., Michèl A. Willemsen, van der Hoeven, Johannes H., Cornelis Jakobs, Maurits, N.M., Willemsen, M.A., Deborah A. Sival, Maurits, Natasha M; id_orcid, Bok, L.A., van der Hoeven, JH   +64 more
core   +1 more source

A new branch of mammalian vitamin B6 metabolism: AKR1C‐mediated conversion of pyridoxal to pyridoxine and 4‐pyridoxolactone

The FEBS Journal, Volume 293, Issue 16, Page 4841-4859, August 2026.
Pyridoxal 5'‐phosphate (PLP), the coenzyme form of vitamin B6, is essential for amino acid metabolism. In mammals, PLP homeostasis relies on salvage enzymes, yet key metabolic branches remain undefined. We identify AKR1C isozymes as previously undescribed contributors that convert pyridoxal into pyridoxine or 4‐pyridoxolactone through reductase and ...
Nayu Kito, Yasuyuki Kitaura, Kyoka Iino, Kazuya Toriumi, Hyunah Noh, Naoya Ogawa, Makoto Arai, Hisashi Hemmi, Tomokazu Ito   +8 more
wiley   +1 more source