Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders [PDF]
OBJECTIVE To evaluate the reliability, responsiveness, and validity of the Scale for the Assessment and Rating of Ataxia (SARA) in patients with lysosomal storage disorders (LSDs) who present with neurological symptoms, and quantify the threshold for a ...
Arash-Kaps, Laila +22 more
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Gene Therapy Approaches for Neurological Lysosomal Storage Diseases [PDF]
, 2014 GM1 and GM2 gangliosidosis are lysosomal storage diseases caused by deficiency of enzymes required for ganglioside catabolism. Enzyme deficiencies cause neuronal accumulation of ganglioside resulting in progressive neurodegeneration and premature death ...
McCurdy, Victoria
core
Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis [PDF]
To develop a novel enzyme replacement therapy for neurodegenerative Tay-Sachs disease (TSD) and Sandhoff disease (SD), which are caused by deficiency of β-hexosaminidase (Hex) A, we designed a genetically engineered HEXB encoding the chimeric human β ...
Akeboshi +44 more
core +2 more sources
Double-Stranded RNA-Dependent Protein Kinase (PKR) is Downregulated by Phorbol Ester [PDF]
, 2005 The double-stranded RNA-dependent protein kinase (PKR) is one of the key mediators of interferon (IFN) action against certain viruses. PKR also plays an important role in signal transduction and immunomodulation.
Chase, Barbara I. +4 more
core +1 more source
Molecular Therapy for Lysosomal Storage Diseases [PDF]
, 2013 Itoh, Kohji, Tsuji, Daisuke
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What is a premature death? [PDF]
, 2007 The one who dies is deprived of goods that this person would have enjoyed if he or she had continued living, according to the popular “deprivation account of harm.” The person who dies “prematurely” is generally thought to suffer the most harm from death.
Trisel, Brooke Alan
core
Development and characterization of GM2 gangliosidoses mouse models
, 2023 GM2 gangliosidoses are a group of rare lysosomal storage disorders (LSDs) characterized by lysosomal accumulation of GM2 ganglioside in the nervous system, resulting in a range of neurodegenerative disorders. These disorders result from mutations in the genes encoding the 𝛼- or 𝛽-subunits of the enzyme 𝛽-hexosaminidase A (HexA), or more rarely the GM2 ...
openaire +1 more source
Sandhoff disease (GM2 gangliosidoses) in a premature patient with bronchopulmonary dysplasia.
Neurosciences (Riyadh, Saudi Arabia), 2002 We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.
Atiqa, Abdul-Wahab +2 more
openaire +2 more sources
A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]
, 2015 Bradbury, Allison M +5 more
core +2 more sources
VaProS: a database-integration approach for protein/genome information retrieval [PDF]
core +1 more source