Results 81 to 90 of about 1,834 (152)

Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu - Alu recombination [PDF]

Neurology, 2015
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and biochemical evidence of pyridoxine-dependent epilepsy but only a single identifiable mutation in ALDH7A1. METHODS We designed a custom oligonucleotide array with high-density probe coverage across the ALDH7A1 gene.
Mefford, Heather C, Zemel, Matthew, Geraghty, Eileen, Cook, Joseph, Clayton, Peter T, Paul, Karl, Plecko, Barbara, Mills, Philippa B, Nordli, Douglas R, Gospe, Sidney M   +9 more
openaire   +3 more sources

Treatment of pediatric epilepsy

Pediatric Investigation, Volume 10, Issue 1, Page 86-100, February 2026.
Anti‐seizure medications are the first‐line treatment for the vast majority of children with epilepsy, with the advantages of non‐invasive wide adaptability. Surgery is the main treatment for drug‐resistant epilepsy and lesion‐related epilepsy, which can cure some cases of epilepsy in children. A ketogenic diet is often an add‐on therapy.
Junxiao Li, Tinghong Liu, Chang Liu, Jie Deng, Shijie Wu, Suhui Kuang, Xiaotong Li, Zhirong Wei, Shuli Liang   +8 more
wiley   +1 more source

Association analysis of polymorphic variants in ALDH7A1, AOC1, PSAP, ADCYAP1 genes involved in the histamine metabolism with asthma development in individuals from the republic of Bashkortostan

Якутский медицинский журнал
Many environmental and genetic factors are involved in asthma development, among which an important role in the disease formation and response to antihistamine therapy belongs to genes involved in the histamine metabolism (HRH1, HRH2, HRH3, HRH4, HDC ...
O. N. Savelieva, A. S. Karunas, Yu. Yu. Fedorova, A. O. Vlasova, A. R. Biktasheva, R. F. Gatiyatullin, E. I. Etkina, E. K. Khusnutdinova   +7 more
doaj   +1 more source

ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis

Nature Communications, 2019
Intracellular vesicle transport can be regulated by Brefeldin‐A ADP‐Ribosylated Substrate (BARS) during vesicle fission. Here, the authors show that NADH generated by aldehyde dehydrogenase 7A1 (ALDH7A1) inhibits intracellular transport by targeting BARS
Jia-Shu Yang, Jia-Wei Hsu, Seung-Yeol Park, Stella Y. Lee, Jian Li, Ming Bai, Claudia Alves, William Tseng, Xavier Michelet, I-Cheng Ho, Victor W. Hsu   +10 more
doaj   +1 more source

Tumor Cell‐Derived CXCL2 Potentiates Neutrophil‐Mediated Antitumor Immunity by Inhibiting Cholesterol Biosynthesis in Hepatocellular Carcinoma

Advanced Science, Volume 13, Issue 2, 9 January 2026.
This study identifies the unconventional role of CXCL2 in regulating neutrophil polarization and immune responses in HCC. Unlike the common view that CXCL2 acts mainly as an extracellular chemokine, intracellular CXCL2 can interact with YBX1 and prevent its nuclear translocation.
Xin Liu, Danli Yang, Qianqian Jiang, Meng Han, Zhao Zhou, Yukun Li, Yu Wu, Jingzhou Wang, Ting Zhang, Guohua Lou, Guochao Wei, Lin Wang, Fengmin Lu, Xiangmei Chen   +13 more
wiley   +1 more source

Engineered Multifunctional Hydrogel Delivering Novel CBX7 Inhibitor Modulates Cuproptosis Via Liquid–Liquid Phase Separation to Restore Cardiac Function in Aged Myocardial Infarction

Advanced Science, Volume 13, Issue 1, 5 January 2026.
An age‐adapted therapy pairs δ‐Amyrenone, a CBX7 inhibitor, with an alginate hydrogel (CSAδ) to rescue infarcted elderly hearts. CSAδ disrupts CBX7–ATP7A liquid–liquid phase separation, restores ATP7A trafficking and copper efflux, suppresses cuproptosis, supplies oxygen, scavenges ROS, promotes M2 polarization, supports angiogenesis, and enhances ...
Jun Liu, Peng Qu, Jiao Shi, Tingting Liang, Yao Gu, Xue Li, Cui Ma, Danyang Zhao, Feila Liu, Qi Liang, Panke Cheng, Qian Lei   +11 more
wiley   +1 more source

Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Inherited metabolic disorders (IMDs) encompass a diverse and expanding group of rare diseases caused by genetic disruptions mainly in metabolic enzymes and transporters. Clinical diagnosis of IMDs presents significant challenges due to phenotypic heterogeneity, nonspecific symptoms, and the limited scope of current targeted biochemical assays ...
Jonathan Martens, Udo F. H. Engelke, Ron A. Wevers, Dirk J. Lefeber, Purva Kulkarni   +4 more
wiley   +1 more source

Complementary Muscle Metabolomics and Proteomics of Muscle in Cows With Post‐Calving Ketosis

Journal of Veterinary Internal Medicine, Volume 39, Issue 6, November/December 2025.
ABSTRACT Background The muscle tissue of dairy cows is a site of β‐hydroxybutyrate (BHBA) metabolism. The mechanisms underlying the changes in proteins and metabolites in the muscle tissue of cows with ketosis remain unclear. Objectives To elucidate the metabolic and physiological molecular adaptation mechanisms in the muscle tissue of cows with ...
Tao Tang, Jing Zhou, Jiahao Shao, Meigui Wang, Siqi Xia, Wenqiang Sun, Xianbo Jia, Jie Wang, Songjia Lai   +8 more
wiley   +1 more source

Dietary management for pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency, a follow‐on from the international consortium guidelines

JIMD Reports
Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is a neurometabolic disorder in the lysine metabolism pathway. In 2014 and 2021, the International PDE consortium published consensus guidelines about diagnosis and management.
Marjorie Dixon, Chloe Millington, Laurie Bernstein, Curtis R. Coughlin II, Morgan Drumm, Sommer Gaughan, Clara D. M. vanKarnebeek, Annemiek M. J. vanWegberg   +7 more
doaj   +1 more source

Pyridoxine responsive epilepsy caused by a novel homozygous PNPO mutation

Molecular Genetics and Metabolism Reports, 2016
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridoxine. Biochemical analysis revealed normal markers for antiquitin deficiency and also mutation analysis of the ALDH7A1 (Antiquitin) gene was negative ...
B. Jaeger, N.G. Abeling, G.S. Salomons, E.A. Struys, M. Simas-Mendes, V.G. Geukers, B.T. Poll-The   +6 more
doaj   +1 more source