Results 191 to 200 of about 803,924 (342)

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Cipaglucosidase alfa and miglustat for treatment of late-onset Pompe disease (LOPD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Baker EK, Derry A, Cohen JL, Chang IJ, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Durability of Response to B‐Cell Maturation Antigen‐Directed mRNA Cell Therapy in Myasthenia Gravis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We report the 12‐month follow‐up outcomes from a Phase 2 clinical trial (NCT04146051) evaluating Descartes‐08, a BCMA‐directed RNA chimeric antigen receptor T‐cell (rCAR‐T) therapy for refractory generalized myasthenia gravis (MG).
Nizar Chahin, Gregory Sahagian, Marc H. Feinberg, C. Andrew Stewart, Christopher M. Jewell, Metin Kurtoglu, Miloš D. Miljković, Tuan Vu, Tahseen Mozaffar, James F. Howard Jr, the MG‐001 Study Group   +10 more
wiley   +1 more source

Association of Metabolic Genotype Composite CYP3A5*3 and CYP3A4*1B to Tacrolimus Pharmacokinetics in Stable Black and White Kidney Transplant Recipients. [PDF]

Clin Transl Sci
Brazeau D, Attwood K, Cooper LM, Gray V, Chang S, Chen S, Murray BM, Tornatore KM.   +7 more
europepmc   +1 more source

NR4A1 Exerts Pro‐Tumor Role in Glioblastoma via Inducing xCT/GPX4‐Regulated Ferroptosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Purpose This study investigates NR4A1's paradoxical roles in glioblastoma (GBM) progression, focusing on its mechanistic link to ferroptosis regulation. We aimed to resolve conflicting reports of NR4A1 as both an oncogene and a tumor suppressor by defining its transcriptional control over xCT/GPX4‐mediated iron homeostasis and its clinical ...
Peng Tao, Shikuan Din, Zhengkang Fu, Qian Sun, Xiwei Zhu, Yuxin Wei, Huan Qu, Xinyi Zhang, Jiaxuan Liu, Chuhua Fu, Qianxue Chen   +10 more
wiley   +1 more source

G-Protein-Coupled Receptor Class C Group 6 Member A (GPRC6A) and Serine Protease Inhibitor, Kazal Type 1 (SPINK1) Genotypes Associated With Refractory Functional Dyspepsia: A Potential Link to Endosonographic Features. [PDF]

Cureus
Higashida S, Futagami S, Nakamura K, Agawa S, Habiro M, Kawawa R, Onda T, Tanabe T, Ueki N, Atsukawa M.   +9 more
europepmc   +1 more source

Genetic Modifiers of Parkinson's Disease: A Case–Control Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the associations of LRRK2 p.G2019S, GBA1 p.N409S, polygenic risk scores (PRS), and APOE E4 on PD penetrance, risk, and symptoms. Methods We conducted a US‐based observational case–control study using data from the 23andMe Inc. and Fox Insight Genetic Substudy (FIGS) databases.
Matthew J. Kmiecik, Michael V. Holmes, Pierre Fontanillas, Giulietta M. Riboldi, Ruth B. Schneider, Jingchunzi Shi, Anna Guan, Susana Tat, Steven Micheletti, Keaton Stagaman, Josh Gottesman, David A. Hinds, Joyce Y. Tung, 23andMe Research Team, Stella Aslibekyan, Lucy Norcliffe‐Kaufmann   +15 more
wiley   +1 more source

Management of Gaucher Disease Type 1 in a Resource-Limited Setting: A Pediatric Case Study. [PDF]

Clin Case Rep
Shah BK, Koirala D, Mishra B, Sapkota R, Basnet M.   +4 more
europepmc   +1 more source

Quality test of kalliginogenase preparations. (II). Enzyme immunoassay and investigation of its clinical use.

, 1988
YOSHINARI SUZUKI, KEN ANEZAKI, ITSURO KAWAKAGE, KIICHIRO FUJII   +3 more
openalex   +2 more sources

Plasma Glial Fibrillary Acidic Protein Correlates With Brain Metal Burden in Wilson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuroinflammation driven by extracellular copper contributes to neuronal damage in Wilson's disease (WD). This study investigated the relationship between brain metal burden and peripheral neuroinflammation markers in WD. Methods We conducted a cross‐sectional study involving 89 participants, including patients with WD (n = 63 ...
Sung‐Pin Fan, Ya‐Fang Chen, Cheng‐Hsuan Li, Yih‐Chih Kuo, Ni‐Chung Lee, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Tai‐Chung Tseng, Tung‐Hung Su, Chien‐Ting Hsu, Huey‐Ling Chen, Chin‐Hsien Lin, Yen‐Hsuan Ni   +12 more
wiley   +1 more source