Results 71 to 80 of about 9,035 (208)

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Cab45G trafficking through the insulin secretory pathway is altered in human type 2 diabetes

iScience
Summary: In type 2 diabetes (T2D), the rate of insulin secretory granule biogenesis can limit insulin secretion from pancreatic β-cells. Using rat insulinoma INS1 β-cells, we show that the soluble Ca2+-binding/trafficking protein, Cab45G, serves as a non-
Mark Germanos, Belinda Yau, Matthew Taper, Cara Yeoman, Amy Wilson, Yousun An, Jerome Cattin-Ortolá, Drew Masler, Jason Tong, Sheyda Naghiloo, Elise J Needham, A Gabrielle van der Kraan, Kitty Sun, Thomas Loudovaris, Alexis Diaz-Vegas, Mark Larance, Helen Thomas, Helen von Blume, Peter Thorn, Michael Ailion, Cedric Asensio, Melkam Alamerew Kebede   +21 more
doaj   +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

Human Intestinal Morphogenesis Controlled by Transepithelial Morphogen Gradient and Flow-Dependent Physical Cues in a Microengineered Gut-on-a-Chip

iScience, 2019
Summary: We leveraged a human gut-on-a-chip (Gut Chip) microdevice that enables independent control of fluid flow and mechanical deformations to explore how physical cues and morphogen gradients influence intestinal morphogenesis.
Woojung Shin, Christopher D. Hinojosa, Donald E. Ingber, Hyun Jung Kim   +3 more
doaj   +1 more source

Association Between Neurofilament Light Chain and Real‐World Ambulatory Function in Progressive MS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurofilament light chain (NfL) is a biomarker of neuroaxonal injury in multiple sclerosis (MS), yet associations with functional outcomes remain unclear. Longitudinal associations between serum NfL (sNfL) and daily step count (STEPS) from wearable devices were assessed in a large international progressive MS cohort.
Gabby B. Joseph, Megan McCune, Riley Bove, Ahmed Abdelhak, Bruce A. C. Cree, Valerie J. Block   +5 more
wiley   +1 more source

Inhibition of acid or neutral sphingomyelinases differentially impacts RNA and protein cargo sorting to extracellular vesicles

iScience
Summary: Extracellular vesicles (EVs) form through regulated biogenesis processes involving sphingomyelinases (SMases), enzymes that metabolize sphingomyelin to produce ceramide—a lipid influencing membrane rigidity and essential for EV generation.
Juan-Carlos A. Padilla, Seda Barutcu, Jonathan Boulais, Janaína Carla da Silva, Yiran Chen, Easin Syed, Eunjeong Kwon, Eric Lécuyer   +7 more
doaj   +1 more source

Three-Dimensional Analysis of Mitochondrial Crista Ultrastructure in a Patient with Leigh Syndrome by In Situ Cryoelectron Tomography

iScience, 2018
Summary: Mitochondrial diseases produce profound neurological dysfunction via mutations affecting mitochondrial energy production, including the relatively common Leigh syndrome (LS).
Stephanie E. Siegmund, Robert Grassucci, Stephen D. Carter, Emanuele Barca, Zachary J. Farino, Martí Juanola-Falgarona, Peijun Zhang, Kurenai Tanji, Michio Hirano, Eric A. Schon, Joachim Frank, Zachary Freyberg   +11 more
doaj   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Discrepancies Between Micro Versus Macroscale Viscoelastic Properties in a Microplastic‐Tissue Composite Model

Advanced Engineering Materials, EarlyView.
This study explores the discrepancies between bulk mechanics and spatial mapping in a tissue‐mimetic hydrogel model. Microplastic particles create localized stiff mechanical microenvironments that are detectable by cellular‐scale nanoindentation but leave bulk properties unchanged as measured by rheology.
Ahron T. Verschleisser, Baptiste Le Roi, Omri Leshem, Joshua M. Grolman   +3 more
wiley   +1 more source

Supporting AI Readiness Through Digital Workflows in Materials Science

Advanced Engineering Materials, EarlyView.
Digitalization drives innovation in materials science by connecting data silos and turning heterogeneous processes into reusable research pipelines. Across 13 MaterialDigital projects, digital workflows reveal complementary pathways toward AI‐ready materials research, founded on structured data, persistent artifacts, executable orchestration, and ...
Marian Bruns, Lateef Abdul, Stephan Barth, Martin Glauer, Manuel Günther, Fabian Neuhaus, Jan‐Ole Perschewski, Thomas Bjarsch, Henrik Abel, Johannes Bosch, Niklas Meyer, Peter Hofmann, Marc Drechsler, Alexander Dyck, Dhanunjaya Kumar Nerella, Marvin Tegeler, Oleg Shchyglo, Ingo Steinbach, Timo Klecker, Henk Birkholz, Ehsan Borzabadi Farahani, Bernard Fedelich, Cetin Haftaoglu, Tarakeshwar Lakshmipathy, Elena Garcia Trelles, Christoph Schweizer, Reza Darvishi Kamachali, Lukas Koschmieder, Janin Eiken, Markus Apel, Sung‐Min Wi, Jiangdong Zhao, Andreas Fezer, Nicolas Christ, Patrick Schneider, Eldor Urinov, Veit Königer, Volker Knoblauch, Janik Harter, Thomas Seifert, Thitichai Janpheng, Florian Fuchs, Fabian Teichert, Jörg Schuster, Anke Bardehle, Andreas Limper, Ulrich Giese, Carlos Lucke, Mario Beiner, Christoph Gögelein, Lisa Leuchtenberger‐Engel, Christian Hopmann, Felix Wentzien, Heike Wittek, Benjamin Klie, Alexander Röhrs, Ludger Overmeyer, Achraf Atila, Marcel Sadowski, Leopold Talirz, Jan Janssen, Jesper R. Pedersen, Peter Beck, Tejs Vegge, Ivano E. Castelli, Wolfgang Wenzel, Tilmann Hickel, Jörg Schaarschmidt   +67 more
wiley   +1 more source