Results 61 to 70 of about 1,294 (181)
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
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Revista de la Facultad de Medicina, 2019 Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three ...
Carlos Andrés Gualdrón-Frías +1 more
doaj +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
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
Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]
Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...
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Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro +2 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská +15 more
wiley +1 more source
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review
Annals of Clinical and Translational Neurology, Volume 11, Issue 1, Page 207-224, January 2024.Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this.
Neha P. Godbole +7 more
wiley +1 more source
Metabolomic studies of lipid storage disorders, with special reference to Niemann-Pick type C disease: a critical review with future perspectives [PDF]
, 2020 Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted ...
Gibson, M +4 more
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