Results 61 to 70 of about 12,643 (191)
Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Kyle Landskroner +3 more
wiley +1 more source
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
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.Current carrier screening primarily focuses on high detection rates and broad testing ranges. We approach the issue from the perspective of a community physician, evaluating the suitability of carrier screening based on factors such as cost, ease of report interpretation, and compliance issues.
Zhihui Wang +6 more
wiley +1 more source
Stem Cell ResearchLate-Onset Tay-Sachs (LOTS) disease is caused by mutations in the HEXA gene associated with a deficiency in the lysosomal enzyme β-hexosaminidase A, ultimately leading to an accumulation of ganglioside GM2.
Gorka Fernández-Eulate +4 more
doaj +1 more source
Spartan Daily, November 5, 2003 [PDF]
, 2003 Volume 121, Issue 48https://scholarworks.sjsu.edu/spartandaily/9914/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +2 more sources
Brain Pathology, Volume 36, Issue 1, January 2026.Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li +7 more
wiley +1 more source
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model
Molecular Therapy: Methods & Clinical Development, 2019 GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley +6 more
doaj +1 more source
Spartan Daily, February 5, 1988 [PDF]
, 1987 Volume 90, Issue 5https://scholarworks.sjsu.edu/spartandaily/7664/thumbnail ...
San Jose State University, School of Journalism and Mass Communications
core +3 more sources
Molecular Diagnosis in a Specialised Neurogenetic Clinic With Access to Whole‐Genome Sequencing
Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.Background Rare diseases, collectively affecting 1 in 17 people in the United Kingdom and Ireland, require coordinated care. Specialised multidisciplinary clinics offer a streamlined approach for diagnosis and management of rare neurogenetic disorders.
Patrick B. Moloney +2 more
wiley +1 more source