Results 131 to 140 of about 494,571 (318)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Iron-catalysed stereoselective NH transfer enables dynamic kinetic resolution of sulfoxides

Nature Communications
Transition metal-catalysed asymmetric nitrene transfer provides a powerful means to access various bioactive N-containing compounds as single enantiomers.
Fang-Xu Fan, Hui Xu, Shi-Xiong Tang, Yanfeng Dang, Fei Wang   +4 more
doaj   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

Enantioselective construction of silicon-stereogenic vinylsilanes from simple alkenes

Nature Communications
The diverse utility of acyclic vinylsilanes has driven the interest in the synthesis of enantioenriched vinylsilanes bearing a Si-stereogenic center. However, the predominant approaches for catalytic asymmetric generation of Si-stereogenic vinylsilanes ...
Kailin Yin, Jinyu Zhang, Deng Pan, Shu-Han Chen, Song Chen, Yufeng Shi, Genping Huang, Dongbing Zhao   +7 more
doaj   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

Tuning the apparent hydrogen binding energy to achieve high-performance Ni-based hydrogen oxidation reaction catalyst

Nature Communications
High-performance platinum-group-metal-free alkaline hydrogen oxidation reaction catalysts are essential for the hydroxide exchange membrane fuel cells, which generally require high Pt loadings on the anode.
Xingdong Wang, Xuerui Liu, Jinjie Fang, Houpeng Wang, Xianwei Liu, Haiyong Wang, Chengjin Chen, Yongsheng Wang, Xuejiang Zhang, Wei Zhu, Zhongbin Zhuang   +10 more
doaj   +1 more source

Influenza Vaccination Responses in Disabled Stroke Patients: A Single‐Center Prospective Observational Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to investigate the immunological response to influenza vaccination, the incidence and severity of influenza infection, and the side effects of the vaccination in patients with ischemic stroke. Methods This prospective observational study was conducted between 2023 and 2024 at Ramathibodi Hospital.
Achiraya Pakngao, Sureerat Suwatcharangoon, Pintip Ngamjanyapron, Kobporn Boonnak, Thanitta Suangtamai, Porpon Rotjanapan   +5 more
wiley   +1 more source

Photoelectrocatalytic Cl-mediated C(sp 3)–H aminomethylation of hydrocarbons by BiVO4 photoanodes

Nature Communications
Interfacial photoelectrochemistry at photoanodes has been extensively researched for solar energy conversion, but its application for the production of high-value-added chemical compounds in organic chemistry still presents challenges.
Anzai Shi, Pengfei Xie, Yanwei Wang, Youai Qiu   +3 more
doaj   +1 more source

Early diagenesis of amino acids in NE Atlantic continental margin sediments

, 2002
This thesis concentrates on early diagenesis of amino acids in sediments across the NE Atlantic continental slope. Early diagenesis comprises the degradation and transformation processes that take place during transport of amino acids through the water
Organic geochemistry & molecular biogeology, Resistant Organic Matter (ROM), IVAU: Instituut voor Aardwetenschappen Utrecht, Geochemistry, Grutters, M.C.H., Grutters, M.M.C.H.   +5 more
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