Results 41 to 50 of about 4,924,951 (177)
Movement Disorders, EarlyView.Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich +21 more
wiley +1 more source
Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
doaj +1 more source
Development of a High‐Throughput Microarray Platform for Rapid, Low‐Cost Expanded Carrier Screening
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop a customized expanded carrier screening (ECS) solution for 8271 variants of 265 genes. Based on a microarray platform, this solution demonstrates comparable accuracy to next‐generation sequencing (NGS) platform; however, it has a lower cost, a faster speed, and a simplified data—analysis process.
Jiazhen Chang +11 more
wiley +1 more source
Orphanet Journal of Rare Diseases, 2020 Background The GM2 gangliosidoses (GM2), Tay-Sachs and Sandhoff diseases, are rare, autosomal recessive genetic disorders caused by mutations in the lysosomal enzyme β-hexosaminidase A (HEXA) or β-hexosaminidase B (HEXB) genes, respectively.
Nicole Lyn +9 more
doaj +1 more source
A Comparative Analysis of Aging Across Causes of Death
Evolutionary Applications, Volume 19, Issue 9, September 2026.ABSTRACT Although there is huge variation in how mortality changes with age across species, in humans, all‐causes mortality increases at a relatively constant rate across populations and time. However, individuals die due to specific causes that include extrinsic and intrinsic sources. Here, we compared the rate at which mortality increases with age (i.
Gabriele Sorci, Bruno Faivre
wiley +1 more source
Characterization of inducible models of Tay-Sachs and related disease. [PDF]
PLoS Genetics, 2012 Tay-Sachs and Sandhoff diseases are lethal inborn errors of acid β-N-acetylhexosaminidase activity, characterized by lysosomal storage of GM2 ganglioside and related glycoconjugates in the nervous system.
Timothy J Sargeant +5 more
doaj +1 more source
Laypeople's Views on the Narrative Identity and Societal Treatment of Genetically Modified People
Bioethics, Volume 40, Issue 5, Page 472-481, June 2026.ABSTRACT Genome editing in human embryos could raise new ethical issues by changing future people's narrative and numerical identity. Most philosophers agree that some genetic modifications would have larger effects on identity than others, but they disagree on what criteria might explain these differences and have not supported their claims ...
Derek So, Yann Joly, Robert Sladek
wiley +1 more source
Tay-sachs disease heterozygote selection [PDF]
, 1978 The authors determined the serum hexosaminidase A levels in 197 subjects (106 males and 91 females); 174 were adults and 23 were children aged from 20 days to 15 years; 13 of the children were of Jewish origin, the other 10 children were non-Jewish.
B J Schmidt +7 more
core +1 more source
Molecular mechanisms of Tay Sachs Disease: calcium, excitotoxicity, and apoptosis [PDF]
, 2007 The objective is to investigate the molecular mechanisms leading to neurodegeneration in Tay Sachs disease, a lysosomal storage disorder caused by a deficiency in the enzyme hexosaminidase A.
King, John-Paul
core +1 more source
Journal of Lipid Research, 1972 Analyses have been made of glycosphingolipids from visceral organs and brain of a patient with an unusual lipid storage disorder diagnosed initially as classical Tay-Sachs disease. Levels of the lipids from fresh-frozen sections of gray and white matter,
Paul D. Snyder, Jr. +2 more
doaj +1 more source