Results 91 to 100 of about 15,504 (206)
Examination of a blood-brain barrier targeting β-galactosidase-monoclonal antibody fusion protein in a murine model of GM1-gangliosidosis [PDF]
, 2021 GM1-gangliosidosis is a lysosomal disease resulting from a deficiency in the hydrolase β-galactosidase (β-gal) and subsequent accumulation of gangliosides, primarily in neuronal tissue, leading to progressive neurological deterioration and eventually ...
Carlson, Timothy W +10 more
core +1 more source
Movement Disorders, Volume 40, Issue 1, Page 7-21, January 2025.Abstract Advances in genetic technologies and disease modeling have greatly accelerated the pace of introducing and validating molecular‐genetic contributors to disease. In dystonia, there is a growing convergence across multiple distinct forms of the disease onto core biological processes.
Nicole Calakos, Michael Zech
wiley +1 more source
Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.
PLoS ONE, 2013 Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa +7 more
doaj +1 more source
Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]
, 2021 Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
core
European Journal of Neurology, Volume 32, Issue 1, January 2025.Abstract Background and purpose Disabling dystonia despite optimal medical treatment is common in Wilson disease (WD). No controlled study has evaluated the effect of deep brain stimulation (DBS) on dystonia related to WD. This study was undertaken to evaluate the efficacy of DBS on dystonia related to WD.
Chloé Laurencin +23 more
wiley +1 more source
Journal of Lipid Research, 2007 GM1-gangliosidosis and Morquio B disease are lysosomal storage disorders caused by β-galactosidase deficiency attributable to mutations in the GLB1 gene.
Raül Santamaria +4 more
doaj +1 more source
Patchy Dermal Melanocytosis: Differential Diagnosis and Management
Journal of Cosmetic Dermatology, Volume 24, Issue 1, January 2025.ABSTRACT Background Nevus of Ito and Mongolian spots are distinct clinical presentations of patchy dermal melanocytosis, characterized by similar dermatological manifestations that can pose diagnostic difficulties for clinicians. Aim This review aims to consolidate current understanding and research advancements on these conditions to facilitate ...
Jiafang Zhu +4 more
wiley +1 more source
Expression and Purification of Human Lysosomal β-galactosidase from Pichia Pastoris [PDF]
, 2014 Lysosomal storage diseases are genetically inherited diseases caused by the dysfunction of lysosomal enzymes. In a normal cell, lysosomal enzymes cleave specific macromolecules as they are transported to the lysosome.
Tarullo, Sarah E
core +2 more sources
Minimally invasive routes of AAV administration to treat GM1 gangliosidosis [PDF]
, 2020 GM1 gangliosidosis is a lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (βgal), which results in the accumulation of GM1 ganglioside and fatal neurodegeneration.
Gross, Amanda
core
Lysosomal storage diseases [PDF]
, 2017 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include
Ferreira, Carlos, Gahl, William
core +2 more sources