Results 51 to 60 of about 2,496,873 (280)

Recent advances in gene therapy for lysosomal storage disorders [PDF]

, 2015
David PW Rastall,1 Andrea Amalfitano1,2 1Department of Microbiology and Molecular Genetics, 2Department of Pediatrics, College of Osteopathic Medicine, Michigan State University, East Lansing, MI, USA Abstract: Lysosomal storage disorders (LSDs) are a ...
Amalfitano A, Rastall DP
core  

TRPML1 agonist ML‐SA5 attenuates pulmonary fibroblast activation by suppressing mTOR and restoring autophagic flux

FEBS Open Bio, EarlyView.
TGF‐β1 stimulation downregulates lysosomal channel TRPML1 in pulmonary fibroblasts. The TRPML1 agonist ML‐SA5 suppressed fibroblast‐to‐myofibroblast activation and collagen production. Mechanistically, ML‐SA5 inhibited mTOR phosphorylation, restored autophagic flux, and its effects were enhanced by rapamycin (mTOR inhibitor) and reversed by MHY1485 ...
Jiatong Yao, Xiaoting Kang, Lulu Meng, Shaoxuan Zhang, Qiujie Li, Jinyu Zhou, Mengyue Xue, Chu Li, Hua Zhu, Pengzhou Hang, Jing Zhao   +10 more
wiley   +1 more source

Treatment of skeletal and non-skeletal alterations of Mucopolysaccharidosis type IVA by AAV-mediated gene therapy

Nature Communications, 2021
Mucopolysaccharidosis type IVA (MPSIVA) is a lysosomal storage disorder causing severe skeletal and non-skeletal alterations in patients. Here, the authors generate a MPSIVA rat model that mimics the disabling human pathology and develop an AAV9-Galns ...
Joan Bertolin, Víctor Sánchez, Albert Ribera, Maria Luisa Jaén, Miquel Garcia, Anna Pujol, Xavier Sánchez, Sergio Muñoz, Sara Marcó, Jennifer Pérez, Gemma Elias, Xavier León, Carles Roca, Veronica Jimenez, Pedro Otaegui, Francisca Mulero, Marc Navarro, Jesús Ruberte, Fatima Bosch   +18 more
doaj   +1 more source

Reprogramming of lysosomal gene expression by interleukin-4 and Stat6. [PDF]

, 2013
BACKGROUND: Lysosomes play important roles in multiple aspects of physiology, but the problem of how the transcription of lysosomal genes is coordinated remains incompletely understood.
Meira, LB, Czimmerer, Z, Louise M Brignull, Hafida Saidi, Saidi, H, Bartlett, Nathan W., Bence Daniel, Nagy, László, Villela, Izabel, Nohturfft, A, Brignull, LM, Izabel Villela, Johnston, Sebastian L., Meira, Lisiane B., Villela, I, Axel Nohturfft, Nohturfft, Axel, Zsolt Czimmerer, Brignull, L. M., Nathan W Bartlett, Saidi, H., Dániel, Bence, Czimmerer, Zsolt, Daniel, B, Lisiane B Meira, Saidi, Hafida, Brignull, Louise M., Nagy, L, Villela, I., Laszlo Nagy, Bartlett, NW, Johnston, SL, Sebastian L Johnston   +32 more
core   +1 more source

Cerebrospinal Fluid Over Plasma Links Analytes to Cognitive Decline in Older Adults at Risk for Alzheimer's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To identify inflammatory analytes in cerebrospinal fluid (CSF) and plasma associated with cognitive decline in cognitively normal (CN) older adults at risk for Alzheimer's disease (AD). Methods In a longitudinal study of 118 CN older adults (65–80 years, 54% APOE ε4, 26% preclinical AD), 1331 CSF and 1501 plasma analytes were ...
Jagan A. Pillai, Audrey Zhu, Chunxuan Ma, Ming Wang, Yifan Yang, Lynn M. Bekris, Maria Khrestian, Frank P. DiFilippo, Mikhail Nasrallah, Aaron Burberry, James B. Leverenz, Yuan Hou, Feixiong Cheng, Stephen M. Rao   +13 more
wiley   +1 more source

Lysosomal storage disease : revealing lysosomal function and physiology

, 2010
The discovery over five decades ago of the lysosome, as a degradative organelle and its dysfunction in lysosomal storage disorder patients, was both insightful and simple in concept.
Parkinson-Lawrence, E., Borlace, G., Prodoehl, M., Shandala, T., Plew, R., Brooks, D.   +5 more
core   +1 more source

Acetyl-leucine slows disease progression in lysosomal storage disorders [PDF]

, 2020
Acetyl-DL-leucine is a derivative of the branched chain amino acid leucine. In observational clinical studies acetyl-DL-leucine improved symptoms of ataxia, in particular in patients with the lysosomal storage disorder, Niemann-Pick disease type C1. Here,
Cortina-Borja, M, Karl J Morten (16281605), Fineran, Paul, Smith, C, Spencer, John, Smith, De, Barry Boland (2011333), Platt, FM, Kaya, Ecem, Lauren Morris (2577274), Joanna Poulton (81462), Mario Cortina-Borja (130639), Smith, Claire, Brémovà-Ertl, Tatiana, Boland, Barry, Strupp, M, Strupp, Ml, Strupp, Michael, Spencer, J, Kaya, E, Boland, B, Morten, Karl J, Claire Smith (528058), Tatiana Bremova-Ertl (5639939), David A Smith (14591504), Ecem Kaya (9416438), Smith, DA, John Spencer (4461472), Bremova-Ertl, T, Poulton, Joanna, Paul Fineran (5639921), Morris, L, Platt, F, Cortina-Borja, Mario, Smith, David A, Poulton, J, Morris, Lauren, Frances M Platt (16212410), Platt, Frances M, Fineran, P, Morten, Kj, Michael Strupp (318710)   +41 more
core   +2 more sources

Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery

Advanced Functional Materials, EarlyView.
A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon, Iksoo Jang, Taehyeon Kim, Nayoung Yoon, Kyuha Yum, Jong Bum Lee   +5 more
wiley   +1 more source

A non-conserved miRNA regulates lysosomal function and impacts on a human lysosomal storage disorder

, 2014
Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes.
Di Malta, Chiara, Ballabio, Andrea, Lund, Anders H., Wen, Jiayu, Eskelinen, Eeva-Liisa, Frankel, Lisa B   +5 more
core   +2 more sources

A Holistic Platform Approach for Developing Robust Pulmonary mRNA Delivery: Integrating Novel Phenolic Acid‐Derived Ionizable Lipids and Device Engineering

Advanced Functional Materials, EarlyView.
An integrated pulmonary mRNA delivery platform combining novel biodegradable syringic acid‐derived ionizable lipids, design‐of‐experiments formulation optimization, and vibrating‐mesh nebulizer engineering enabled stable aerosolization and efficient lung delivery.
Neha Kaushal, Younan Ma, Asad Khanmohammed, Dipen Parande, Hanming Zhang, Saket Dolare, Juliet Chen, Apiwat Wangweerawong, Saswata Karmakar, Hongfeng Deng, Frank Koppenhagen, Shraddha Sharma, Eric Reyes, Sherry He, Lianne Boeglin, Caroline Woo, Azadeh Paksa, Ayed Allawzi, Anusha Dias, Gregory Troiano, Shrirang Karve, Frank DeRosa   +21 more
wiley   +1 more source