Results 121 to 130 of about 36,163 (246)

Broadening applications for intrathecal gene therapy: a case for lysosomal storage diseases. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +1 more source

Editorial: Neuronopathic lysosomal storage diseases - specific neuronal characteristics and therapeutic approaches. [PDF]

Front Mol Neurosci, 2022
Flunkert S, Hutter-Paier B, Sun Y, Kehr J.   +3 more
europepmc   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Japanese experience of newborn screening for lysosomal storage diseases and adrenoleukodystrophy. [PDF]

Orphanet J Rare Dis
Onuki T, Tajika M, Sugiyama Y, Shimura M, Ichimoto K, Tanaka T, Nyuzuki H, Kosuga M, Migita O, Ito T, Sasai H, Bo R, Hamada J, Hamazaki T, Sakai N, Inoue T, Nakamura K, Okuyama T, Murayama K.   +18 more
europepmc   +1 more source

Correction to: A systematic review of economic evaluations of enzyme replacement therapy in Lysosomal storage diseases. [PDF]

Cost Eff Resour Alloc, 2022
Katsigianni EI, Petrou P.
europepmc   +1 more source

Predominance of Ferroptotic Cell Death Mechanisms in Substantia Nigra Neurodegeneration in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng, Anusha Jayaraman, Richard Reynolds, Jia Nee Foo   +3 more
wiley   +1 more source

How to manage hypersensitivity reactions to enzyme replacement therapy in lysosomal storage diseases? [PDF]

Orphanet J Rare Dis
Spataro F, Solimando AG, Desantis V, Vacca A, Di Girolamo A, Ria R.   +5 more
europepmc   +1 more source

The Antifungal Antibiotic Filipin as a Diagnostic Tool of Cholesterol Alterations in Lysosomal Storage Diseases and Neurodegenerative Disorders. [PDF]

Antibiotics (Basel), 2023
Bruno F, Camuso S, Capuozzo E, Canterini S.   +3 more
europepmc   +1 more source

Lysosomal storage diseases

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995
openaire   +2 more sources

lysosomal storage disease

Citation: 'lysosomal storage disease' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.10907 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms. Requests for
openaire   +1 more source