Results 141 to 150 of about 397,718 (300)

Mitochondria‐Targeting Moieties Based on N‐Tethered Pyridinium Cations

Angewandte Chemie, EarlyView.
Pyridinium cations were benchmarked as mitochondria‐targeting moieties in a panel of N‐tethered fluorescent‐, bioactive‐, and inert‐cargo conjugates. 3,5‐Diphenylpyridinium (DPPy+) is a competent triphenylphosphonium (TPP+) surrogate, combining high mitochondria‐targeting efficiency with lower intrinsic effects on mitochondrial function.
Ivan Džajić, Natalija Trunkelj, Jernej Repas, Maša Kandušer, Lara Smrdel, Stane Pajk, Lovro Žiberna, Irena Mlinarič‐Raščan, Bostjan Markelc, Tim Bozic, Masa Omerzel, Tanja Jesenko, Maja Cemazar, Katja Kološa, Bojana Žegura, Miha Virant, Matic Lozinšek, Hai M. Nguyen, Joshua A. Nasburg, Heike Wulff, Maxime Gueguinou, Valerije Vrček, Veronica Carpanese, Ildiko Szabo, Luis A. Pardo, Tihomir Tomašič, Lucija Peterlin Mašič, Andrej Emanuel Cotman   +27 more
wiley   +2 more sources

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Sequence‐Encoded Frustration Directs the Formation of Abridged G‐Quadruplex Architectures

Angewandte Chemie, EarlyView.
Programmable frustration reshapes the free‐energy surface (FES) of guanine‐quadruplex (G4) folding, stabilizing an abridged G4 and a G‐triplex intermediate. ABSTRACT Frustration—competing interactions that cannot be simultaneously optimized—shapes energy landscapes in proteins and soft matter, but has rarely been exploited as a programmable design ...
Yuncheng Qian, Mohamed Y. Ali, Andreas I. Karsisiotis, Paul Dillon, Scarlett A. Dvorkin, Peter A. C. McPherson, Mateus Webba da Silva   +6 more
wiley   +2 more sources

The physio-histological improvement of CeO2NPs and calcitriol treatment on inflamed chronically kidneys in male laboratory rats

Medical Journal of Babylon
Background: Chronic kidney disease affects almost 10% of the world, according to current studies. The complications of chronic renal disease can lead to mortality.
Asawer Kareem ALsadoon, Jafar Abass Issa Al-Maamori, Ahmed Mahdi Rheima   +2 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Mimicking a Light‐Harvesting Complex to Accelerate Photooxidation in Asymmetric Lipid Membrane Nanoreactors

Angewandte Chemie International Edition, EarlyView.
Biomimetic liposome nanoreactors mimicking natural light‐harvesting complexes enable efficient photooxidation of NADH. Membrane‐anchored fluorescein transfers energy via FRET to membrane anchored eosin Y, oxidizing NADH. While symmetric membranes show little improvement, asymmetric chromophore distribution enhances photooxidation rates by up to 27 ...
Julian Bösking, Roland E. P. Nau, Nico Alleva, Richard Jacobi, Tobias Meyer‐Zedler, Hannah Voßhenrich, Francesca Mazotta, Ingo Lieberwirth, David Ng, Michael Schmitt, Jürgen Popp, Leticia González, Tanja Weil, Andrea Pannwitz   +13 more
wiley   +1 more source

A Synergistic Inhibitor Development Strategy Against Human UDP‐Galactose‐4‐Epimerase

Angewandte Chemie International Edition, EarlyView.
The epimerase GalE is crucial for the biosynthesis of cancer‐relevant O‐GalNAc glycans. Here, we employ orthogonal, structurally enabled small molecule fragment screens to yield both covalent and non‐covalent inhibitors against GalE within no more than 22 elaborated compounds.
William M. Browne, Jonathan Pettinger, Teresa Weckwerth, Andrew Purkiss, Sing Hei Lok, Louisa Penicaut, Roksana Ogrodowicz, Raveena Prema, Simone Kunzelmann, Chloe Roustan, Ganka Bineva‐Todd, Saskia Pieters, Francesca Zappacosta, Alfred E. Doherty, Isobel Oram, Christelle Soudy, Robert Quinlan, Joanna Redmond, Svend Kjaer, David House, Stephane Mouilleron, Jacob T. Bush, Benjamin Schumann   +22 more
wiley   +1 more source

Ribozymes for RNA‐Catalyzed RNA Methylation and Labeling

Angewandte Chemie International Edition, EarlyView.
Ribozymes are powerful tools for site‐specific RNA modification. Their activities range from installing tags and fluorophores to generating natural RNA methylations, making them valuable tools to uncover the many functions that RNA plays in nature.
Carolin P. M. Scheitl, Claudia Höbartner   +1 more
wiley   +1 more source