Results 161 to 170 of about 11,466,555 (302)

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Stage‐Dependent β‐Synuclein Links MRI and Cognitive Decline in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Synaptic degeneration drives cognitive decline in Alzheimer's disease (AD), but synaptic biomarkers are scarce. Brain‐enriched β‐synuclein emerged as a synaptic damage marker. We investigated its diagnostic, prognostic, and structural correlates across the AD continuum.
Ulaş Ay, Merve Alaylioglu, Erdi Sahin, Sanem Sultan Yoruk Oner, Gulce Iskan, Gulce Cosku Yilmaz Cakan, Gozde Kizilates‐Evin, Emre Hari, Elif Kurt, Erdinc Dursun, Basar Bilgic, Hasmet Hanagasi, Hakan Gurvit, Tamer Demiralp, Duygu Gezen‐Ak, Bedia Samanci   +15 more
wiley   +1 more source

Endothelial Cell Proteins as Biomarkers in Susac Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Susac syndrome (SS) is a rare CD8+ T cell–mediated microangiopathy affecting the brain, retina, and auditory labyrinth. Endothelial injury is thought to be a central mechanism; however, no circulating disease biomarkers are known. We performed targeted proteomic profiling to identify circulating endothelial‐associated proteins as ...
Rohit Benjamin, Yue Andy Qi, Ying Hao, Catherine DeMarino, Samuel Darko, Irene Cortese, Daniel S. Reich, María I. Gaitán, Steven Jacobson, Bridgett J. Billioux, Bryan Smith, Avindra Nath   +11 more
wiley   +1 more source

The Underexplored Mechanobiology of Lamin A Biogenesis and Homeostasis. [PDF]

Biol Cell
Fraboulet S, Aldarawish O, Dolega ME.
europepmc   +1 more source

The Association of Amyloid‐β and Tau With Synaptic Dysfunction in Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To clarify the relative contributions of amyloid and tau to synaptic dysfunction in Alzheimer's disease (AD). Methods We included 109 cognitively unimpaired and impaired individuals from the Geneva Memory Center with available CSF synaptic biomarkers (neurogranin, SNAP‐25, GAP‐43). Participants were stratified according to amyloid (A)
Fausto Roveta, Augusto J. Mendes, Valentina Garibotto, Cecilia Boccalini, Aurelien Lathuiliere, Innocenzo Rainero, Elisa Rubino, Henrik Zetterberg, Nicholas J. Ashton, Federica Ribaldi, Giovanni B. Frisoni, for the Alzheimer's Disease Neuroimaging Initiative   +11 more
wiley   +1 more source

Protein homeostasis and inter-organellar signaling under salt stress. [PDF]

Plant Signal Behav
Das S, Arif Y, Mousavi H, Aronsson H, Bazihizina N, Sarraf M.   +5 more
europepmc   +1 more source

Parkinson Disease Subtype Stability and Eventual Convergence

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Previous research identified distinct Parkinson disease (PD) clinical subtypes of “Motor Only,” “Psychiatric & Motor,” and “Cognitive & Motor” based on comprehensive, multidomain classification. Whether these subtypes reflect distinct trajectories or progressive disease stages remains unknown.
Laura M. Rosok, Christina N. Lessov‐Schlaggar, Abdulmunaim M. Eid, Erin R. Foster, Baijayanta Maiti, Hailee Domash, Helen Hwang, Richard J. Perrin, Paul T. Kotzbauer, Joel S. Perlmutter, Meghan C. Campbell   +10 more
wiley   +1 more source

Patients improve, patterns persist: longitudinal stability of RA joint involvement patterns

Arthritis Care &Research, Accepted Article.
Objective Rheumatoid arthritis is a heterogeneous disease. Data‐driven approaches, from synovial histology to joint involvement patterns (JIPs), have sought to define clinically meaningful subgroups. Whether these subgroups represent stable phenotypes or transient disease states remains unclear.
Tjardo Maarseveen, Yasuo Nagafuchi, Kristina Lend, Seyam Alemyar, Herman Kasper Glas, Gerdur Gröndal, Bjorn Gudbjornsson, Espen A. Haavardsholm, Kim Hørslev Petersen, Jon Lampa, Merete Lund Hetland, Dan Nordström, Mike Nurmohamed, Mikkel Østergaard, Anna Rudin, Marte Schrumpf Heiberg, Tuulikki Sokka‐Isler, Till Uhlig, Josien Veris‐van Dieren, Ronald van Vollenhoven, Tom Huizinga, Marcel JT Reinders, Sytske Anne Bergstra, Erik van den Akker, Rachel Knevel   +24 more
wiley   +1 more source

β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations

Advanced Biology, Volume 9, Issue 3, March 2025.
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio, B. Spedicato, G. Corallo, A. Inguscio, M. Greco, D. Musarò, D. Vergara, A. F. Muro, G. De Sabbata, L. R. Soria, N. Brunetti Pierri, M. Maffia   +11 more
wiley   +1 more source

Animal models for investigating post-stroke cognitive impairment: A neurovascular trafficking perspective. [PDF]

Animal Model Exp Med
Kaewkaen P.
europepmc   +1 more source