Lysosomal Storage Diseases: Heterogeneous Group of Disorders [PDF]
BioImpacts, 2013 The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes.
David A. Wenger +2 more
doaj +1 more source
Perinatal Gene Transfer to the Liver [PDF]
, 2011 The liver acts as a host to many functions hence raising the possibility that any one may be compromised by a single gene defect. Inherited or de novo mutations in these genes may result in relatively mild diseases or be so devastating that death within
Buckley, SM +6 more
core +1 more source
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]
, 2016 Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph +10 more
core +2 more sources
Achievements and beyond: Scientific trajectory of Professor Mohammad A. Rafi [PDF]
BioImpacts, 2021 This biography highlights the scientific trajectory of Professor Mohammad A. Rafi, Ph.D., who, in particular, has greatly advanced the field of neurodegenerative disorders during his long and successful tenure at Jefferson Medical College, Thomas ...
Yadollah Omidi, Abass Alavi
doaj +1 more source
FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis
PLoS ONE, 2020 Purpose To provide a quantitative clinical-regulatory insight into the status of FDA orphan drug designations for compounds intended to treat lysosomal storage disorders (LSDs). Methods Assessment of the drug pipeline through analysis of the FDA database
S. Garbade +7 more
semanticscholar +1 more source
Lysosomal storage disorders – challenges, concepts and avenues for therapy: beyond rare diseases
Journal of Cell Science, 2019 The pivotal role of lysosomes in cellular processes is increasingly appreciated. An understanding of the balanced interplay between the activity of acidic hydrolases, lysosomal membrane proteins and cytosolic proteins is required.
A. R. Marques, P. Saftig
semanticscholar +1 more source
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry
International Journal of Molecular Sciences, 2020 Lysosomal storage disorders (LSDs) are characterized by an accumulation of various substances, such as sphingolipids, mucopolysaccharides, and oligosaccharides.
R. Mashima, T. Okuyama, Mari Ohira
semanticscholar +1 more source
AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease [PDF]
, 2017 Pompe disease (PD) is a metabolic myopathy due to acid alpha-glucosidase deficiency and characterized by extensive glycogen storage and impaired autophagy.
Alvino, Filomena Grazia +13 more
core +1 more source
Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease
International Journal of Molecular Sciences, 2020 The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes.
Shani Blumenreich +3 more
semanticscholar +1 more source
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48) [PDF]
, 2016 Objective: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype–phenotype correlations in patients with ...
Baets, Jonathan +18 more
core +2 more sources