Results 101 to 110 of about 171,175 (241)

Inotersen: new promise for the treatment of hereditary transthyretin amyloidosis

Drug Design, Development and Therapy, 2019
Veena Mathew,1 Annabel K Wang1,2 1Department of Neurology, UCI ALS and Neuromuscular Center, University of California, Irvine, Orange, CA, USA; 2Neurology Section, Tibor Rubin VA Medical Center, Long Beach, CA, USA Abstract: Hereditary transthyretin ...
Mathew V, Wang AK
doaj  

Antisense oligonucleotides to KIF1A polymorphisms expand targets and rescue patient-derived neurons in vitro

Nature Communications
Dominant negative pathogenic variants in KIF1A result in an allelically heterogeneous neurodegenerative condition that manifests as a variable clinical phenotype including seizures, cognitive deficits, optic nerve atrophy, spasticity, and peripheral ...
Michael V. Zuccaro, Randee E. Young, Jiangyuan Hu, Patricia Lanzano, Ekaterina Semenova, Xiaoqi Lin, Alicja Skowronski, Yufeng Shen, Tae Hyun Kim, Danny E. Miller, Noelle Germain, Patrick Sarmiere, Charles A. LeDuc, Wendy K. Chung   +13 more
doaj   +1 more source

Transfer RNA‐Derived Small RNA‐5’tiRNAGln Drives HNRNPC Phase Separation to Promote Breast Cancer Bone Metastasis by Regulating IGF1R

Advanced Science, EarlyView.
This study reveals that 5'tiRNA‐Gln interacts with hnRNPC to promote IGF1R liquid‐liquid phase separation, which drives ERK1/2 signaling activation, EMT, and breast cancer bone metastasis. These findings highlight a novel mechanism of breast cancer bone metastasis and potential therapeutic target in metastatic breast cancer.
Bingnan Wang, Dongsong Liu, Xiaozhi Fan, Jiale Fan, Xuesi liu, Yu Wang, Zixin Wang, Mo Cheng, Ping Zhou, Wangjun Yan   +9 more
wiley   +1 more source

Coupling Exponential Rolling Circle Amplification to Lateral Flow Devices for Point‐of‐Care Detection of Viral RNA

Angewandte Chemie, EarlyView.
A new exponential RCA (E‐RCA) system was developed and coupled to a toehold system for release of a bridging DNA, allowing for lateral flow detection. The E‐RCA method uses a secondary primer (P2) that binds RCA products (RCAP) to generate extended P2 products that can re‐prime a partially self‐complementary circular template, generating a complete ...
Amal Mathai, Monsur Ali, Yingfu Li, John D. Brennan   +3 more
wiley   +2 more sources

Huntingtin Aggregate‐Responsive Autophagy Gene Circuit Mitigates Disease Pathology in R6/2 Mice

Advanced Science, EarlyView.
CD98‐mediated receptor‐mediated transcytosis enables LIP‐CD98 nanocarriers to cross the blood–brain barrier and deliver ARAA to neurons. mHTT aggregates activate the 11G–NarX sensor, initiating Auto‐P and Trans‐P signaling through the VP48–NarL relay.
Jie Zhu, Xi‐xiu Xie, Lei Li, Chen Tian, Hao‐tian Wang, Xiao‐jie Wang, Xiao‐lin Yu, Gui‐feng Zhang, Rui‐tian Liu   +8 more
wiley   +1 more source

UBE3A Dosage Imbalance as a Molecular Framework Linking Angelman Syndrome and Dup15q‐Associated Autism Phenotypes

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT UBE3A is a dosage‐sensitive HECT E3 ubiquitin ligase whose neuronal expression is shaped by genomic imprinting at the 15q11.2‐q13 locus. Opposite directions of UBE3A dosage imbalance contribute to distinct neurodevelopmental phenotypes: loss of maternal UBE3A underlies Angelman syndrome, whereas maternally derived 15q11.2‐q13 copy‐number gains,
Ruslan Kurmashev
wiley   +1 more source

Genome‐wide network analysis identifies the lncRNA‐92467/miR‐205‐5p/PTPRM/CAMs axis in a rat model of hypoxic pulmonary hypertension

Animal Models and Experimental Medicine, EarlyView.
The pathogenesis of hypoxic pulmonary hypertension (HPH) remains unclear. In this study, we explored its key regulatory mechanisms using animal models, RNA sequencing, and cellular assays. We found that lncRNA‐92467 functions as a ceRNA, binding miR‐205‐5p, and thereby upregulating PTPRM, inhibiting abnormal proliferation and migration of endothelial ...
Yan‐Ying Shen, Yi‐Bing Chen, Xin Li, Xiang Xu, Ge Guo, Han‐Lu Li, Yong‐Ming Yao, Chun‐Lei Liu   +7 more
wiley   +1 more source

Neurotransmitter‐Defined Degeneration Patterns in Sporadic and C9orf72‐Associated Amyotrophic Lateral Sclerosis: Predilection to GABAergic, Serotonergic, Opioid, Glutamatergic, Endocannabinoid, and Microglial Systems—Implications for Therapy Development

Annals of Neurology, EarlyView.
Objective Amyotrophic lateral sclerosis (ALS) has a markedly distinctive clinical and neuroradiological signature, with the preferential involvement of specific brain networks and the apparent sparing of others. The molecular underpinnings of the strikingly selective anatomical vulnerability have not been fully elucidated to date despite the potential ...
Marlene Tahedl, We Fong Siah, Jasmin Lope, Jennifer C. Hengeveld, Mark A. Doherty, Russell L. McLaughlin, Orla Hardiman, Ee Ling Tan, Alison Toomey, Jana Kleinerova, Peter Bede   +10 more
wiley   +1 more source

Nuclease-Resistant Composite 2‘,5‘-Oligoadenylate−3‘,5‘-Oligonucleotides for the Targeted Destruction of RNA:  2−5A-Iso-antisense

, 2016
A new modification of 2−5A-antisense, 2−5A-iso-antisense, has been developed based on a reversal of the direction of the polarity of the antisense domain of a 2−5A-antisense composite nucleic acid. This modification was able to anneal with its target RNA
Wei Xiao (16583), Cornelius F. Waller (3021600), Paul F. Torrence (2535820), Mark R. Player (2143573), Guiying Li (1480285), Ratan K. Maitra (795693), Robert H. Silverman (138235)   +6 more
core   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source