Results 71 to 80 of about 2,885,518 (281)

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

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

Expression variation in lysosomal storage disorder genes [PDF]

, 2006
Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively.
Mason, Lyndel Ann
core  

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

Innate Immunocompetent hiPSC‐Derived Neurospheroids Capture Early CNS Responses to rAAV

Advanced Science, EarlyView.
Knowledge of human CNS immune responses to AAV‐based gene therapies remains limited due to the lack of immune‐competent human models. Here, a hiPSC‐derived 3D neuroimmune platform integrating neurospheroids and microglia is established using stirred‐tank bioreactors.
Catarina M. Gomes, Gabriela Silva, Mafalda Aleixo, Marta Gomes, Daniel Simão, Stephan J. Holtkamp, Diana D. Lobo, Pradeep Harish, Rosalind Jenkins, Lekh N. Dahal, Rui J. Nobre, Luís de Pereira de Almeida, Mark Trautwein, Paula M. Alves, Catarina Brito   +14 more
wiley   +1 more source

Charting Endocrine Progenitors Across Species and Organs

Advanced Science, EarlyView.
Endocrine progenitors give rise to the hormone‐producing cells of the pancreas and intestine. Using single‐cell multiomics and proteomics, this study compares these progenitors across species, systems, and organs, mapping the conserved and species‐specific gene regulatory networks that guide their formation.
Changying Jing, Michael Sterr, Özüm Sehnaz Caliskan, Lama Saber, Nicole Katarina Rogers, Samuel Ogden, Kei Kozawa, Christos Karampelias, Jessica Jaki, Aimée Bastidas‐Ponce, Falk Janos Farkas, Oliver Czarnecki, Osvaldo Rodrigues Pereira, Perla Cota, Valerie Vandenbempt, Diego Balboa, Anika Böttcher, Natalie Krahmer, Mohammad Lotfollahi, Julie B. Sneddon, Heiko Lickert, Mostafa Bakhti   +21 more
wiley   +1 more source

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  

A Micropeptide Component of the OGDH Complex Modulates ATP Production in the TCA Cycle

Advanced Science, EarlyView.
This study identified a mitochondrial micropeptide encoded by a non‐canonical open reading frame (alt‐ORF) within the CTSB gene. This micropeptide named APPM (ATP production‐promoting micropeptide) is a novel component of the OGDHc complex in the TCA cycle. APPM localizes to the inner mitochondrial membrane and directly binds to OGDH, the E1 subunit of
Xinqiang Yin, Weiyan Qi, Lifen Lin, Huilin Zheng, Guoxiang Zhao, Quan Chen, Guoqiang Shao, Yifan Wu, Jialiang Hu, Hanmei Xu   +9 more
wiley   +1 more source

Dual pKa Lipid Nanoparticles for Lung‐tropic mRNA Delivery and pH‐Programmed Endosomal Escape

Advanced Science, EarlyView.
Lipid nanoparticles’ bottleneck lies in low endosomal escape efficiency and liver‐dominant delivery after intravenous administration. To overcome these limitations, we present a stepwise pH‐programmed lipid nanoparticle system enabled by our newly synthesized ionizable lipid.
Seong Gi Lim, Minju Lee, Yiming Wang, Eunjin Choi, Ji Sun Park, Kyungmin Park, Hayoung Jeon, Donghyun Kim, Donghyun Lee, Yeeun Lee, Kee‐Pyo Kim, Eunha Kim, Heebeom Koo   +12 more
wiley   +1 more source

Dissecting the impact of N-acetylmannosamine (ManNAc) on ganglioside levels in a sialin-deficient cell model

microPublication Biology
Lysosomal free sialic acid storage disorder (FSASD) is an ultra-rare neurodegenerative condition caused by mutations in SLC17A5, which encodes the lysosomal sialic acid exporter, sialin.
Marya S. Sabir, Marjan Huizing, William A. Gahl, Frances M. Platt, May Christine V. Malicdan   +4 more
doaj   +1 more source