Results 131 to 140 of about 202,201 (346)

Cryo-EM structure of cardiac amyloid fibrils from an immunoglobulin light chain AL amyloidosis patient

Nature Communications, 2018
Systemic light chain amyloidosis (AL) is a life-threatening disease caused by aggregation and deposition of monoclonal immunoglobulin light chains (LC) in target organs.
P. Swuec, F. Lavatelli, M. Tasaki, Cristina Paissoni, Paola Rognoni, M. Maritan, F. Brambilla, P. Milani, P. Mauri, C. Camilloni, G. Palladini, G. Merlini, S. Ricagno, M. Bolognesi   +13 more
semanticscholar   +1 more source

Hydrogel platforms for 3D cardiac tissue engineering and fibrotic disease modelling

FEBS Open Bio, EarlyView.
Hydrogel‐based cardiac tissue models are advancing our understanding of heart health and disease. By incorporating electrical conductivity, aligned structures, and tunable mechanical properties, these platforms better replicate the complex environment of native heart tissue.
Harrison Porritt, Annika Winbo, Jenny Malmström   +2 more
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Soluble tau aggregates, not large fibrils, are the toxic species that display seeding and cross‐seeding behavior

Protein Science, 2018
Several studies have proposed that fibrillary aggregates of tau and other amyloidogenic proteins are neurotoxic and result in numerous neurodegenerative diseases.
Gaurav Ghag, Nemil Bhatt, Daniel V. Cantu, Marcos J. Guerrero-Muñoz, A. Ellsworth, Urmi Sengupta, R. Kayed   +6 more
semanticscholar   +1 more source

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

Mouse α-synuclein fibrils are structurally and functionally distinct from human fibrils associated with Lewy body diseases

The intricate process of α-synuclein aggregation and fibrillization holds pivotal roles in Parkinson's disease (PD) and multiple system atrophy (MSA).
Duda, A.M., Mazzulli, J.R., Lashuel, H.A., Burbidge, K.J., Strader, S., Donzelli, S., Perera, L., Viverette, E., Stahlberg, H., Chen, O., Xu, E., Yuan, Y., Shiell, L., Bartesaghi, A., Tatli, M., Patel, N., West, A.B., Sokratian, A., Li, H., Zhou, Y., Malankhanova, T., Borgnia, M., Duda, Addison M., Burbidge, Kevin J., Donzelli, Sonia, Stahlberg, Henning, Viverette, Elizabeth, Chen, Olivia, Malankhanova, Tuyana, Yuan, Yuan, Perera, Lalith, Lashuel, Hilal, Patel, Nirali, Lashuel, Hilal A., Xu, Enquan, Strader, Samuel, Borgnia, Mario, Sokratian, Arpine, Shiell, Lauren, Mazzulli, Joseph R., West, Andrew B., Zhou, Ye, Li, Huizhong, Bartesaghi, Alberto, Tatli, Meltem   +44 more
core   +3 more sources

Atrial fibrillation

The Lancet, 1998
C H, Toh, F, Johnstone, J, Webster
openaire   +4 more sources

Phosphorylated exogenous alpha-synuclein fibrils exacerbate pathology and induce neuronal dysfunction in mice

Scientific Reports, 2017
Approximately 90% of alpha-synuclein (α-Synuclein) deposited in Lewy bodies is phosphorylated at serine 129 suggesting that the accumulation of phosphorylated α-Synuclein is critical in the pathogenesis of Parkinson’s disease.
Mantia Karampetsou, M. Ardah, M. Semitekolou, A. Polissidis, Martina Samiotaki, Maria Kalomoiri, N. Majbour, G. Xanthou, O. El-Agnaf, K. Vekrellis   +9 more
semanticscholar   +1 more source

Evaluation of Dried Plasma Spot‐Based Quantification of Glial Fibrillary Acidic Protein as a Disease‐Associated Biomarker in Neuromyelitis Optica Spectrum Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab, Evelyn Alvarez, Roua Hamdi, Bingqing Zhang, Hayeun Ji, Niyati Jhaveri, Patrick Schindler, Pedro Sanchez, Pia S. Sperber, Tanja Schmitz‐Hübsch, Frederike C. Oertel, Nisa Vorasoot, Najib Kissani, Falko Böhringer, Jens Kuhle, Anne‐Katrin Pröbstel, Xiao‐Jun Ma, Péter Körtvelyessy, Patrick Waters, Friedemann Paul   +19 more
wiley   +1 more source

RNA selectively modulates activity of virulent amyloid PSMα3 and host-defense LL-37 via phase separation and aggregation dynamics

eLife
Amyloid-forming peptides are increasingly recognized as dynamic regulators at the host–pathogen interface, yet how environmental factors control their assembly and activity remains poorly understood.
Bader Rayan, Eilon Barnea, Rinat Indig, Christian F Pantoja, Jesse Gayk, Yael Lupu-Haber, Alexander Upcher, Amir Argoetti, Jacob Aunstrup Larsen, Alexander Kai Buell, Markus Zweckstetter, Meytal Landau   +11 more
doaj   +1 more source