Results 101 to 110 of about 41,053 (230)

Engineered GM1 Intersects Between Mitochondrial and Synaptic Pathways to Ameliorate ALS Pathology

Advanced Science, EarlyView.
Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease driven by genetic and molecular disruptions affecting energy balance, protein homeostasis, and stress responses in nerve cells. Studies using human and rodent models identified convergent defects in mitochondria and synaptic function.
Federica Pilotto, Tristan Dellazizzo Toth, Silvano Bond, Alexander Schmitz, Rim Diab, Sara Y. Ngo Tenlep, Brian Mooney, Silvia Erni, Martina Schobesberger, Olivier Scheidegger, Camille Peitsch, Smita Saxena   +11 more
wiley   +1 more source

A20 Facilitates Oxaliplatin Sensitivity in Colorectal Cancer Through Monoubiquitylation of IKK‐β

Advanced Science, EarlyView.
This study demonstrates that the expression of A20, a ubiquitin‐editing enzyme, is positively correlated with oxaliplatin sensitivity in colorectal cancer (CRC). Mechanistically, A20 enhances oxaliplatin sensitivity by inhibiting NF‐κB nuclear translocation through monoubiquitination of IKK‐β.
Fan Luo, Ting Yang, Jiaxin Cao, Qun Chen, Zhenhai Lu, Feiteng Lu, Chaozhuo Lin, Zengfei Xia, Yuanzhong Yang, Peng Li, Wenjuan Ma, Min Luo, Rongxin Zhang   +12 more
wiley   +1 more source

Autophagy Activators Normalize Aberrant Tau Proteostasis and Rescue Synapses in Human Familial Alzheimer's Disease iPSC‐Derived Cortical Organoids

Advanced Science, EarlyView.
A new cerebrocortical organoid model using isogenic hiPSCs with familial Alzheimer's mutations recapitulates key AD features, including amyloid‐beta and phospho‐Tau aggregation, neuronal hyperexcitability, and synapse loss. Single‐cell RNA‐seq reveals aberrant pathways in excitatory and inhibitory neurons.
Sergio R. Labra, Jadon Compher, Akhil Prabhavalkar, Mireya Almaraz, Claudia Cedeño Kwong, Christine Baal, Maria Talantova, Nima Dolatabadi, Julian Piña‐Sanz, Yubo Wang, Leonard Yoon, Swagata Ghatak, Zi Gao, Yuting Zhang, Dorit Trudler, Lynee Massey, Wei Lin, Anthony Balistreri, Michael Bula, Nicholas J. Schork, Tony S. Mondala, Steven R. Head, Jeffery W. Kelly, Stuart A. Lipton   +23 more
wiley   +1 more source

Dried Blood Spot (DBS) Methodology Study for Biomarker Discovery in Lysosomal Storage Disease (LSD). [PDF]

Metabolites, 2021
Rus CM, Di Bucchianico S, Cozma C, Zimmermann R, Bauer P.   +4 more
europepmc   +1 more source

OCIAD2 Stabilizes Integrin β1 Signaling Through SNX17‐Mediated Endosomal Recycling to Lipid Rafts and Modulates Cisplatin Response in HNSCC

Advanced Science, EarlyView.
This study identifies OCIAD2 as a critical regulator of cisplatin resistance in HNSCC. Mechanistically, OCIAD2 stabilizes integrin β1 through a direct physical interaction and facilitates its SNX17‐dependent endosomal recycling to lipid raft microdomains. Targeting OCIAD2 disrupts integrin β1 trafficking and significantly enhances cisplatin sensitivity,
Li Cui, Shanshan Si, Min Ye, Pei Lin, Meiyan Zou, Yunfan Lin, Xu Chen, Bing Guo, Wenjuan Sun, Xinyuan Zhao   +9 more
wiley   +1 more source

In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease. [PDF]

Nat Commun, 2021
Bose SK, White BM, Kashyap MV, Dave A, De Bie FR, Li H, Singh K, Menon P, Wang T, Teerdhala S, Swaminathan V, Hartman HA, Jayachandran S, Chandrasekaran P, Musunuru K, Jain R, Frank DB, Zoltick P, Peranteau WH.   +18 more
europepmc   +1 more source

Prevalence and management of Gaucher disease

Pediatric Health, Medicine and Therapeutics, 2011
T Andrew Burrow, Sonya Barnes, Gregory A GrabowskiThe Division of Human Genetics, Cincinnati Children's Hospital Medical Center, and the Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USAAbstract: Gaucher ...
Burrow TA, Barnes S, Grabowski GA
doaj  

Stimuli‐Responsive Supramolecular Biomaterials for Cancer Theranostics

Advanced Science, EarlyView.
The ultimate goal of cancer theranostics is to get imaging agents and therapeutic cargo to tumor sites when and where they are required. “Smart” systems should be developed. This review discusses the characteristics of physiological stimuli, types and action modes of external stimuli, construction approaches and working principles, as well as ...
Wenting Hu, Binglin Ye, Guocan Yu, Feihe Huang, Zhengwei Mao   +4 more
wiley   +1 more source

The Regulatory Role of Iron Transporter SLC39A13 in Liver Fibrosis

Advanced Science, EarlyView.
SLC39A13/ZIP13, a newly discovered intracellular iron transporter, delivers iron to the ER/Golgi to catalyze procollagen hydroxylation during collagen maturation. Here, we systematically characterize the cell type‐specific functions of ZIP13 across distinct hepatic cell populations, and identify hepatic stellate cell‐specific ZIP13 as a promising and ...
Shanshan Guo, Yalin Wang, Binyu Lu, Yu Zhang, David M. Frazer, Bing Zhou   +5 more
wiley   +1 more source

Lysosomal Storage Disease

Iranian Journal of Child Neurology, 2012
How to Cite this Article: Ghofrani M. Lysosomal Storage Disease. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):1-2.   For Reading more pls see PDF    
openaire   +1 more source