Results 151 to 160 of about 25,002 (280)

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

A multiplex interactome of Ebola virus proteins reveals TM9SF2 as a cell‐surface attachment factor that promotes viral entry

iMetaOmics, EarlyView.
This study generates a comprehensive Ebola virus (EBOV)‐human protein–protein interactome, comprising 1728 core high‐confidence interactions. Further interactome analysis revealed the potential association of EBOV glycoprotein (GP) with the host factor TM9SF2. Subsequent mechanistic investigations confirmed that TM9SF2 functions as an attachment factor
Limin Shang, Shouwen Du, Yuchen Liu, Letian Li, Xi Wu, Yanzhi Yuan, Chaozhi Jin, Qingkun Mi, Yuhang Wang, Xiaoshuang Shi, Jiamin Wang, Guoqing Zhang, Yidan Ma, Weijin Huang, Jigang Wang, Jian Wang, Chang Li   +16 more
wiley   +1 more source

Metal‐dependent regulated cell death: Molecular architecture and translational frontiers

iMeta, EarlyView.
Intracellular metal dyshomeostasis orchestrates distinct regulated cell death programs, including iron‐driven ferroptosis, copper‐mediated cuproptosis, calcicoptosis, newly designated zincoptosis, mnoptosis, and coptosis. This review systematically delineates their molecular architectures—spanning from Sorafenib‐induced lipid peroxidation and ...
Haoliang Hu, Zhe Chen, Yaqi Li, Jiayi Peng, Jiangang Cao, Hong Zhou, Mengqi Wang, Yuejia Du, Hailin Wu, Huiqin Zhao, Shifang Huang, Dianmei Yu, Meiqing Liu, Olga V. Shevchenko, Natalia Yu. Matveeva, Yiyuan Yang, Kerui Huang, Deguan Lv, Junxia Min, Linxi Chen, Fudi Wang   +20 more
wiley   +1 more source

Lysosomal storage disorders.

Indian pediatrics, 2004
This study was conducted to assess the variability of clinical expression of Lysosomal storage disorders (LSDs) and the selection of specific enzyme investigation to reach the differential diagnosis. Initially 150 children in the age range of 15 days to 13 years were screened for common metabolic disorder and based on screening results, clinical signs ...
Jayesh, Sheth, Pinaki, Patel, Frenny, Sheth, Raju, Shah   +3 more
openaire   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Molecular and biochemical insights into dysregulation of glycosphingolipid metabolism in a mouse model of Lysosomal Free Sialic Acid Storage Disorder

Free sialic acid storage disorder (FSASD) is caused by pathogenic variants in SLC17A5, which encodes the lysosomal sialic acid exporter, sialin. FSASD is characterized by the accumulation of lysosomal free sialic acid, leading to either a severe ...
Platt, Frances, Malicdan, May Christine V, Hossain, Mahin S, Sabir, Marya, Leoyklang, Petcharat, Gahl, William A, Huizing, Marjan, Pollard, Laura   +7 more
core   +2 more sources

Microbial metabolite indole‐3‐propionic acid preserves astrocytic mitochondrial mitofusin 2 to limit neuroinflammation after traumatic brain injury

Interdisciplinary Medicine, EarlyView.
Following traumatic brain injury, indole‐3‐propionic acid (IPA) directly targets the aryl hydrocarbon receptor on astrocytes in the peri‐lesional cortex; this suppresses interferon regulatory factor 1‐driven transcription of the E3 ubiquitin ligase RFFL (ring finger and FYVE‐like domain containing E3 ubiquitin protein ligase).
Ziwen Zhang, Kai Wang, Liangbo Wang, Wencong Li, Hao Guo, Meng Xu, Tinghao Wang, Jiahui Ren, Ting Zhu, Jiahui Wang, Wenxing Cui, Jinpeng Zhou, Yang Tian, Liying Han, Chengxuan Guo, Shuoyao Ma, Qiang Wang, Zhihong Li, Yaning Cai, Jingyu Dong, Xun Wu, Haixiao Liu, Yan Qu   +22 more
wiley   +1 more source

Nanoplastics: Methods, Exposure and Effects on Domestic, Farm and Wild Animals

Journal of Applied Toxicology, EarlyView.
ABSTRACT Nanoplastics (NPs) are synthetic polymer particles ranging in size from 1 nm to 1 μm that have been identified as a major concern for ecosystems and organisms due to their plethora of negative effects. The aim of this review is to provide a comprehensive overview of the knowledge relating to exposure and effects of NPs in domestic (i.e., farm ...
B. De Felice, M. Bertazzo, A. F. Tabaran, M. Parolini, R. P. Popa, A. Pintea, L. J. Spicer, A‐L. Nagy, F. Caloni   +8 more
wiley   +1 more source

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +1 more source

miR‐9 Restricts Insulin Secretion by Targeting Rab34, Which Mediates Lysosomal Degradation of Proinsulin

The Kaohsiung Journal of Medical Sciences, EarlyView.
ABSTRACT Insulin secretion is a complex, vesicular transport process. Rab34 is a key regulator of intracellular vesicle transport; however, its role in insulin secretion has not yet been reported. miRNA‐9 is vital for the development and progression of the diagnosis and treatment of type 2 diabetes. This study aimed to investigate whether miR‐9 targets
Zhen‐Zhen Guo, Ao‐Ying Li, Ting‐Ting Xiang, Zu‐Hao Zhang, Ao Deng, Yang Han   +5 more
wiley   +1 more source