Results 81 to 90 of about 73,290 (250)

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan, Jordan Safran, Anna Loughman, Grace Lin, Shivanshi Vaid, Dana Allababidi, Peter M. Tessier, Louis T. Dang   +7 more
wiley   +1 more source

Assessing the Sensitivity and the Clinical Impact of the 2023 American College of Rheumatology/EULAR Classification Criteria in Obstetric Antiphospholid Syndrome: Findings From a Multicenter Italian Cohort With a Long‐Term Follow‐Up

Arthritis Care &Research, EarlyView.
Objective The aim of this study was to evaluate the sensitivity of the 2023 American College of Rheumatology (ACR)/EULAR classification criteria for antiphospholipid syndrome (APS) in a real‐world cohort of women diagnosed with primary obstetric APS (oAPS) and to assess their ability to identify patients at risk of future pregnancy complications ...
Francesca Ruffilli, Cecilia Nalli, Francesca Crisafulli, Carlo Garaffoni, Marcello Govoni, Giulia Voltarel, Alba C. Pozzi, Beatrice Maranini, Ettore Silvagni, Alessandra Bortoluzzi, Angela Tincani   +10 more
wiley   +1 more source

VDAC1 Upregulation Induces Hyperexcitability of Nociceptive Sensory Neurons Via Enhanced Mitochondrial Atp Efflux in Neuropathic Pain

Advanced Science, EarlyView.
The mechanism diagram of VDAC1 mediating neuronal excitability and neuropathic pain. Briefly, VDAC1 is expressed in DRG neurons and is upregulated following CCI‐induced neuropathic pain. This upregulation enhances ATP transport from mitochondria to the cytoplasm in sensory neurons, leading to increased neuronal excitability and pain behavior.
Fengrun Sun, Ning Yu, Liang Yu, Xiaofen Tian, Yujia Ma, Yikuan Xie, Tao Wang, Chao Ma   +7 more
wiley   +1 more source

Astrocytic LMP2 Coordinates NF‐κB and TGF‐β1/Smad3 Signaling to Drive Neuroinflammation after Cerebral Ischemia/Reperfusion

Advanced Science, EarlyView.
ABSTRACT Astrocyte reactivity critically shapes neuroinflammatory outcomes after ischemic stroke, yet the upstream regulators governing astrocyte state transitions remain incompletely defined. Here, we identify the immunoproteasome subunit low molecular weight protein 2 (LMP2) as an important modulator of astrocyte functional remodeling following ...
Yanguang Mao, Rulan Ma, Zejing Lin, Huiying Zhao, Yuexian Liu, Yonghe Su, Xu Zhang, Xingyong Chen   +7 more
wiley   +1 more source

Placental Site Trophoblastic Tumor Acquires Immune Functions by Incorporating Host Maternal Genes

Advanced Science, EarlyView.
PSTT cells, through cell fusion with B cells, incorporate abundant non‐inherited maternal genes that are detectable by DNIMA. These hybrid cells acquire immunotherapy‐resistant genetic changes and increase the expression of B cell‐derived immune‐related molecules such as Ig, HLA, LILRB, SIGLEC10, and so on, creating an immunotolerant environment around
Kyosuke Kagami, Masanori Ono, Yasunari Mizumoto, Tatsuhito Kanda, Takashi Iizuka, Takiko Daikoku, Shin‐ichi Horike, Akira Hattori, Akihito Horie, Sachiko Minamiguchi, Tomoko Fujiwara, Kazuyoshi Hosomichi, Atsushi Tajima, Hirokazu Usui, Kaoru Abiko, Hiroshi Fujiwara   +15 more
wiley   +1 more source

T2T Genome Assembly and Multi‐Omics Data Reveal Terrestrial Adaptation and Mucus Biosynthesis in Tropical Leatherleaf Slug (Laevicaulis alte)

Advanced Science, EarlyView.
A gap‐free genome assembly and multi‐omics comparison of the terrestrial slug Laevichaulis alte with an aquatic relative reveal that expansion of the VEGF family orchestrates mucus production, lipid metabolism, and immune defense—highlighting key molecular innovations for conquering life on land.
Gang Wang, Shaofang He, Zhongkai Wang, Aobo Pang, Xiaoli Sun, Rongchen Liu, Fang Wang, Sisi Chen, Zhijuan Bian, Dongcheng Wei, Liuhan Wu, Siyao Zhao, Qiuting Ji, Yiqi Sun, Niying Sun, Yushinta Fujaya, Boping Tang, Kianann Tan, Daizhen Zhang, Lianfu Chen   +19 more
wiley   +1 more source

Tandem Duplication‐Driven Neofunctionalization of UDP‐Glycosyltransferases Shapes the Diversification of Triterpenoid Saponins in the Cucurbitaceae

Advanced Science, EarlyView.
We present a chromosome‐level genome assembly of Siraitia grosvenorii and, through comparative genomics, uncover a conserved UGT73 tandem array driving triterpenoid saponin diversification in Cucurbitaceae. Crystalized SgUGT73AM30 further reveals the regioselectivity mechanism underlying its catalytic activity.
Guangyi Wang, Mengmeng Li, Xuehui Dai, Yanchen Zhang, Yuhan Wu, Zhaotao Yan, Chenfei Tian, Hongkai Fan, Haili Liu, Xiaowei Zhang, Yiming Yang, Jiayu Lu, Yuwei Sun, Yong Wang   +13 more
wiley   +1 more source