Results 231 to 240 of about 9,766,746 (345)

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy [PDF]

, 2010
Elena Pegoraro, Eric P. Hoffman, Luisa Piva, Bruno F. Gavassini, Stefano Cagnin, Mario Ermani, Luca Bello, Gianni Sorarù, Beniamina Pacchioni, Marco Domenico Bonifati, G. Lanfranchi, C. Angelini, Akanchha Kesari, I. Lee, Heather Gordish‐Dressman, Joseph M. Devaney, Craig M. McDonald   +16 more
openalex   +1 more source

Versatile Cell Penetrating Peptide for Multimodal CRISPR Gene Editing in Primary Stem Cells

Advanced Functional Materials, EarlyView.
CRISPR machinery in diverse molecular formats (DNA, RNA, and ribonucleic protein) is complexed into nanoparticles with the cell‐friendly arginine‐alanine‐leucine‐alanine (RALA) cell‐penetrating peptide. Nanoparticles are delivered to primary mesenchymal stem cells ex vivo or locally in vivo to facilitate multimodal CRISPR gene editing. This RALA‐CRISPR
Joshua P. Graham, Jose Gabriel Castro, Lisette C. Werba, Joseph Amitrano, Luke Fardone, Kevin P. Francis, Anand Ramamurthi, Michael J. Layden, Helen O. McCarthy, Tomas Gonzalez‐Fernandez   +9 more
wiley   +1 more source

Energy metabolism in different skeletal muscles and muscle fibers: implications for injury and dietary supplementation. [PDF]

Pflugers Arch
Kuznetsov AV, Margreiter R, Hagenbuchner J, Ausserlechner MJ.   +3 more
europepmc   +1 more source

Differential Compartmentalization of Enzymatic Reactions for Lactate Signaling Across Protocells

Advanced Functional Materials, EarlyView.
Two populations of protocells consisting of giant unilamellar vesicles containing active species and distinct artificial organelles are competent of collective behavior by mimicking production, intercellular communication, and detection of the bioinspired signal molecule lactate. Enzymatic cascade reactions within artificial organelles demonstrate that
Arianna Balestri, Xinan Huang, Emanuel Lörtscher, Cora‐Ann Schoenenberger, Cornelia G. Palivan   +4 more
wiley   +1 more source

Uncovering compound heterozygous <i>DYSF</i> variants in a Chinese family affected by limb-girdle muscular dystrophy type 2B. [PDF]

Front Genet
Li J, Zhou J, Ji C, Ma S, Zhu J, Yang T, Dong D, Ping Y.   +7 more
europepmc   +1 more source

Mechanisms of Disease: congenital muscular dystrophies—glycosylation takes center stage

, 2006
Paul T. Martin
openalex   +2 more sources

675 Spinal Muscular Atrophy: Two Cases of Rapidly Progressive Disease [PDF]

, 2010
J Extreia, Iona M. Monteiro, Alexandre Rodrigues Ferreira, Sónia Rocha, C Didelet, Eduardo Augusto Gonçalves   +5 more
openalex   +1 more source

Cholesterol in mRNA‐Lipid Nanoparticles can be Replaced with the Synthetic Mycobacterial Monomycoloyl Glycerol Analogue MMG‐1

Advanced Functional Materials, EarlyView.
This study demonstrates that cholesterol in messenger RNA‐lipid nanoparticles (mRNA‐LNPs) can be completely replaced with an immunopotentiating lipid, i.e., a synthetic analogue of the C‐type lectin receptor agonist monomycoloyl glycerol (MMG‐1), without compromising physicochemical properties, in vivo transfection efficiency, and immunogenicity of the
Abhijeet G. Lokras, Saahil S. Baghel, Rune F. Jensen, Aneesh Thakur, Henrik Franzyk, Oskar Thofte, Marco Herrera‐Barrera, Madeleine Landry, Melike Ongun, Ahmad Tami, Marlene P. Thanthrige, Eva Callens, Corinne Beinat, Thomas Rades, Søren R. Paludan, Kristian Riesbeck, Ida Rosenkrands, Dennis Christensen, Gabriel K. Pedersen, Camilla Foged   +19 more
wiley   +1 more source

High Anion Gap Metabolic Acidosis (HAGMA) After Levetiracetam Administration in an 11-Year-Old Boy With Laminin-α2-Deficiency-Associated Muscular Dystrophy and Epilepsy. [PDF]

J Pediatr Pharmacol Ther
Beusker PE, Mehrtens DM, Hamelmann E, Classen G.   +3 more
europepmc   +1 more source

Response to Letter Regarding Article, “Cardiomyopathy in a Duchenne Muscular Dystrophy Carrier and Her Diseased Son: Similar Pattern Revealed by Cardiovascular MRI” [PDF]

, 2010
Ali Yılmaz, Udo Sechtem, Hans‐Jürgen Gdynia, Albert C. Ludolph, Karin Klingel, Reinhard Kandolf   +5 more
openalex   +1 more source