Results 171 to 180 of about 1,408,479 (244)

Mutations at a split codon in the GTPase-encoding domain of OPA1 cause dominant optic atrophy through different molecular mechanisms. [PDF]

Hum Mol Genet, 2022
Weisschuh N, Marino V, Schäferhoff K, Richter P, Park J, Haack TB, Dell'Orco D.   +6 more
europepmc   +1 more source

An Integrated NLP‐ML Framework for Property Prediction and Design of Steels

Advanced Science, EarlyView.
This study presents a data‐driven framework that uses language‐processing techniques to interpret steel processing descriptions and machine‐learning models to predict mechanical properties. By organising complex process histories into meaningful groups and enabling rapid property forecasts, the work supports faster, more informed steel design through ...
Kiran Devraju, Adithya Umanath Rai, Jose Thomson, Marzie Ghorbani, Shujing Zhao, Nick Birbilis   +5 more
wiley   +1 more source

Autosomal dominant optic atrophy: A novel treatment for <i>OPA1</i> splice defects using U1 snRNA adaption. [PDF]

Mol Ther Nucleic Acids, 2021
Jüschke C, Klopstock T, Catarino CB, Owczarek-Lipska M, Wissinger B, Neidhardt J.   +5 more
europepmc   +1 more source

Engineering Microbial Particles for Next‐Generation Biomedical Platforms

Advanced Science, EarlyView.
Microbe‐derived particles (MDPs), which include extracellular vesicles, outer membrane vesicles, inclusion bodies, polysaccharide particles, and virus‐like particles, represent a rapidly expanding category of bioinspired nanomaterials. With their natural origin, intrinsic biocompatibility, and highly programmable functionality, MDPs serve as a ...
Yuting Li, Yunjie Lu, Ziyan Huang, Jianjiang Chen, Yanbin Liu, Lei Qin, Chao Wang, Yumin Wu   +7 more
wiley   +1 more source

PYC-001, a Peptide Conjugated Oligonucleotide for the Treatment of Autosomal Dominant Optic Atrophy

Autosomal dominant optic atrophy (ADOA) is the most common form of inherited optic neuropathy, characterized by a progressive degeneration of the retinal ganglion cells, leading to bilateral vision loss.
Sri Mudumba; Janya Graynok; Sasiwimon Utama; Tracy Chai; Emily Woodward; Danie Champain; Ferrer Ong; Megan Thorne; Munik Tian; Grace Liu; Maria Kerfoot; Adam Martin; Paula Cunningham; Dean De Alvis
core  

CRISPRa-Mediated Increase of OPA1 Expression in Dominant Optic Atrophy. [PDF]

Int J Mol Sci
Becchi G, Whitehead M, Harvey JP, Sladen PE, Dushti M, Chapple JP, Yu-Wai-Man P, Cheetham ME.   +7 more
europepmc   +1 more source

Colour-centred Release Hallucinations in a Patient with Early Parkinson's Disease and Unrecognised Autosomal Dominant Optic Atrophy. [PDF]

Neuroophthalmology, 2021
Hardwick M, Heath D, Saha R, Cooper S.
europepmc   +1 more source

Early Retinal UCHL1 Dysregulation Coupled With Synaptic Loss Reflects Alzheimer's Disease Severity

Advanced Science, EarlyView.
This study identifies synapse‐enriched deubiquitinase UCHL1 as an early Aβ‐responsive regulator of retinal synaptopathy in Alzheimer's disease. Retinal UCHL1 loss accompanies excitatory synapse degeneration, p75NTR activation, and neuroinflammation, and predicts Braak stage and cognitive decline. Aβ42 fibrils trigger synaptic and UCHL1 depletion before
Altan Rentsendorj, Jean‐Philippe Vit, Alexandre Hutton, Yosef Koronyo, Saba Shahin, Edward Robinson, Ernesto Barron, Anthony Rodriguez, Ousman Jallow, Julia Sheyn, Bhakta Prasad Gaire, Lalita Subedi, Miyah R. Davis, Barathan Gnanabharathi, Alexander V. Ljubimov, Stuart L. Graham, Vivek K. Gupta, Mehdi Mirzaei, Debra Hawes, Katlin Silm, Keith L. Black, Lon S. Schneider, Alfredo A. Sadun, Jesse G. Meyer, Dieu‐Trang Fuchs, Maya Koronyo‐Hamaoui   +25 more
wiley   +1 more source

Advances and Perspectives in Graphene‐Based Quantum Dots Enabled Neuromorphic Devices

Advanced Science, EarlyView.
Graphene‐based QDs are zero‐dimensional carbon nanomaterials with pronounced quantum confinement and tunable electronic structures. Herein, we summarize their synthesis strategies and functionalization methods, and highlight their functional roles and operating mechanisms in devices, as well as recent advances in neuromorphic electronics. We anticipate
Yulin Zhen, Wei Zeng, Zherui Zhao, JiYu Zhao, Ziyan Huang, Zhuo Chen, Kui Zhou, Guanglong Ding, Su‐Ting Han, Ye Zhou   +9 more
wiley   +1 more source

Serum neuronal, glial and mitochondrial markers in autosomal dominant optic atrophy and Leber hereditary optic neuropathy. [PDF]

Brain Commun
Rufa A, Plantone D, Bargagli A, Righi D, Bacci T, Serchi V, Primiano G, Gallus GN, Lopergolo D, Pretegiani E, Rosini F, Locci S, Tosi GM, De Stefano N.   +13 more
europepmc   +1 more source