Results 91 to 100 of about 2,434,460 (293)

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

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

Actin Cytoskeleton and Golgi Involvement in Barley stripe mosaic virus Movement and Cell Wall Localization of Triple Gene Block Proteins

The Plant Pathology Journal, 2013
Barley stripe mosaic virus (BSMV) induces massive actin filament thickening at the infection front of infected Nicotiana benthamiana leaves. To determine the mechanisms leading to actin remodeling, fluorescent protein fusions of the BSMV triple gene ...
Hyoun-Sub Lim, Mi Yeon Lee, Jae Sun Moon, Jung-Kyung Moon, Yong-Man Yu, In Sook Cho, Hanhong Bae, Matt deBoer, Hojong Ju, John Hammond, Andrew O. Jackson   +10 more
doaj   +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

Müller glia activation in response to inherited retinal degeneration is highly varied and disease-specific.

PLoS ONE, 2015
Despite different aetiologies, most inherited retinal disorders culminate in photoreceptor loss, which induces concomitant changes in the neural retina, one of the most striking being reactive gliosis by Müller cells.
Claire Hippert, Anna B Graca, Amanda C Barber, Emma L West, Alexander J Smith, Robin R Ali, Rachael A Pearson   +6 more
doaj   +1 more source

Intrinsic structural disorder in cytoskeletal proteins. [PDF]

, 2013
Cytoskeleton, the internal scaffold of the cell, displays an exceptional combination of stability and dynamics. It is composed of three major filamentous networks, microfilaments (actin filaments), intermediate filaments (neurofilaments), and ...
Szabó, Beáta, Guharoy, Majnak, Martos, Sara Contreras, Tompa, Péter   +3 more
core   +1 more source

Bioinspired Co‐Assembly Enables Multiscale Architected Hydrogels for 3D Printing With Integrated Antibacterial and Bioactive Functions

Advanced Functional Materials, EarlyView.
A multicomponent supramolecular hydrogel integrating cell‐adhesive and antibacterial peptides within an alginate‐cellulose nanofibril matrix is developed. Peptide co‐assembly simultaneously strengthens the hydrogel network, improves extrusion printability, and imparts cell‐adhesive and antibacterial functions, offering a versatile platform for ...
Mor Tsuriano‐Zernichov, Francesca Netti, Sigal Rencus‐Lazar, Moran Aviv, Lihi Adler‐Abramovich   +4 more
wiley   +1 more source

Skin Appendage Proteins of Tetrapods: Building Blocks of Claws, Feathers, Hair and Other Cornified Epithelial Structures

Animals
Reptiles, birds, mammals and amphibians, together forming the clade tetrapods, have a large diversity of cornified skin appendages, such as scales, feathers, hair and claws.
Karin Brigit Holthaus, Julia Steinbinder, Attila Placido Sachslehner, Leopold Eckhart   +3 more
doaj   +1 more source

A general mathematical model for the in vitro assembly dynamics of intermediate filament proteins. [PDF]

Biophys J, 2022
Mücke N, Wocjan T, Jacquier M, Herrmann H, Portet S.   +4 more
europepmc   +1 more source

Intermediate filament proteins in adult human arteries

, 1997
BACKGROUND: The cytoskeleton of cells in blood vessel walls contains desmin, vimentin, and cytokeratins. The distribution of these proteins in human vessels is not fully known.
Virtanen, I, Thornell, L E, Johansson, B,, Eriksson, A   +3 more
core