Results 201 to 210 of about 158,447 (307)

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

Chromatin remodelling: a driving force in reverse mechanotransduction. [PDF]

RNA Biol
Buisson J, Colin F, Labernadie A, Rabineau M, Vautier D.   +4 more
europepmc   +1 more source

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Facioscapulohumeral muscular dystrophy (FSHD) is one of the most debilitating and common muscular dystrophies. Despite its severity, no approved therapy exists for FSHD patients. However, several therapeutic candidates are currently under development, and some have recently entered clinical trials, marking the need for reliable ...
Mustafa Bilal Bayazit, Chiranth K. Nagaraj, Jackson S. Newell, Kim Truc Nguyen, Xilal Y. Rima, Jacob Doon‐Ralls, Eduardo Reátegui, Jeffrey M. Statland, Rabi Tawil, Kevin M. Flanigan, Scott Q. Harper, Nizar Y. Saad   +11 more
wiley   +1 more source

Cell and tissue mechanics in 3-D organ morphogenesis: Insights from Drosophila pupal retina development. [PDF]

Dev Biol
Decker JR, Altinok I, Rebay I.
europepmc   +1 more source

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Electrical and mechanical properties of conductive elastic bands as wearable sensors. [PDF]

Sci Rep
Mustafa E, Naeem M, Badr AA, Abdel-Magied ZM, Mohamed AA.   +4 more
europepmc   +1 more source

Affective dynamics in marketplace tensions

This thesis investigates the complex and multifaceted emotional, marketplace, and conflict dynamics between skiers touring and downhill skiers in the Tyrolian Alps. As the popularity of ski touring increased over the last few years, the likelihood of encounters on the slopes increased.
openaire   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Determination of Johnson-Cook Constitutive and Failure Parameters for Cr20Ni80 Alloy Using an Experimental-Numerical Approach. [PDF]

Materials (Basel)
Li Z, Yang X, Zhou K, Song S, Cao M, Li R.   +5 more
europepmc   +1 more source

Associations of Rheumatoid Arthritis Disease Activity With Frailty Over Five Years of Follow‐up

Arthritis Care &Research, EarlyView.
Objective To evaluate whether rheumatoid arthritis (RA) disease activity is associated with frailty both in cross‐section and longitudinally. Methods Participants within the Veterans Affairs Rheumatoid Arthritis (VARA) registry enrolled from 2003 to 2022 were included.
Courtney N. Loecker, Yangyuna Yang, Punyasha Roul, Aaron Baraff, Myra S. Schmaderer, Lani Zimmerman, Kaleb Michaud, Namrata Singh, Grant W. Cannon, Gary Kunkel, Ted R. Mikuls, Ariela R. Orkaby, Joshua F. Baker, Bryant R. England, Katherine D. Wysham   +14 more
wiley   +1 more source