Results 91 to 100 of about 11,930 (298)

Diagnostic yield and copy number variants findings in 219 adult patients with developmental and epileptic encephalopathy

Epilepsia, EarlyView.
Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta, Giulia Bruschi, Tania Giangregorio, Carlotta Stipa, Elisa Mannini, Raffaella Minardi, Barbara Mostacci, Valentina Tontini, Tommaso Pippucci, Francesca Bisulli, Pamela Magini   +10 more
wiley   +1 more source

Translational incorporation of L-3,4-dihydroxyphenylalanine into proteins

, 2005
An Escherichia coli cell-free transcription/translation system was used to explore the high-level incorporation Of L-3,4-dihydroxyphenylalanine (DOPA) into proteins by replacing tyrosine with DOPA in the reaction mixtures.
Watt, S.J., Headlam, MJ, Roger T. Dean, Beck, Jennifer L., Kiyoshi Ozawa, Gottfried Otting, Headlam, Madeleine, Dean, RT, Beck, JL, Headlam, M.J., Otting, Gottfried, Dixon, N.E., Ozawa, K., Watt, Stephen J., Dean, Roger T., Huber, T, Huber, Thomas, Beck, Jennifer, Headlam, Madeleine J., Ozawa, Kiyoshi, Dean, Roger, Watt, SJ, Dixon, Nicholas, Mouradov, Dmitri, Madeleine J. Headlam, Stephen J. Watt, Ozawa, K, Otting, G, Mouradov, D, Mouradov, D., Jennifer L. Beck, Dixon, Nicholas E., Rodgers, KJ, Huber, T., Rodgers, Kenneth J., Thomas Huber, Kenneth J. Rodgers, Nicholas E. Dixon, Otting, G., Watt, Stephen J, Dixon, NE, Rodgers, Kenneth, Beck, J.L., Dmitri Mouradov   +43 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

3,4-Dihydroxyphenylalanine Peptides as Nonperturbative Quantum Dot Sensors of Aminopeptidase

, 2016
Fluorescence-based assays for hydrolases that cleave within the substrate (endopeptidases) are common, while developing substrates for proteases that selectively cleave from peptide termini (exopeptidases) is more challenging, since the termini are ...
Valle Palomo (356637), Michael H. Stewart (1317345), Kimihiro Susumu (1511707), Igor L. Medintz (1317330), Philip E. Dawson (1275774), Sebastián A. Díaz (1512589)   +5 more
core   +1 more source

Ketogenic diet for infantile epileptic spasms

Epilepsia Open, EarlyView.
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Morris H. Scantlebury, Anamika Choudhary, Andy Cheuk‐Him Ng, Cezar Gavrilovici   +3 more
wiley   +1 more source

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source

Hypervision Proton Surgery: The Future Direction of Proton Therapy

iNew Medicine, EarlyView.
ABSTRACT Proton beams provide unique physical advantages characterized by a low entrance dose, negligible exit dose, and a sharp Bragg peak, which enable superior sparing of normal tissues and support safe dose escalation for improved tumor control. However, conventional photon‐based fractionation remains widely used in proton therapy, where prolonged ...
Li Li, Shuanghu Yuan
wiley   +1 more source

Structural investigation of 3,4-dihydroxyphenylalanine-terminated propanethiol assembled on gold

, 2003
3,4-Dihydroxyphenylalanine-terminated propanethiol (DOPA-PT), an amino acid DOPA linked to 3-mercaptopropionic acid through an amide bond, is adsorbed and self-assembled to polycrystalline gold surfaces.
Petoral, Rodrigo Jr,, Uvdal, Kajsa,
core   +1 more source

The regulation of stem cell fate and its application in neural regeneration

Interdisciplinary Medicine, EarlyView.
Regulating stem cell fate is crucial for neural regeneration. This review summarizes key physical, biological, and chemical strategies and their applications in repairing nerve injuries, providing new insights for regenerative medicine. Abstract Regulating the fate of stem cells (SCs) is a key technical problem in the field of regenerative medicine and
Yuexin He, Xingyu Chen, Minghong He, Zhe Li   +3 more
wiley   +1 more source

Management of L-dopa overdose in the competitive inhibition state

Drug, Healthcare and Patient Safety, 2014
Marty Hinz,1 Alvin Stein,2 Ted Cole3 1Clinical Research, NeuroResearch Clinics, Inc., Cape Coral, FL, USA; 2Stein Orthopedic Associates, Plantation, FL, USA; 3Cole Center for Healing, Cincinnati, OH, USA Abstract: The amino acid L-3,4 ...
Hinz M, Stein A, Cole T
doaj