Results 61 to 70 of about 4,924,951 (177)
Expanding the spectrum of HEXA mutations in Indian patients with Tay–Sachs disease
Molecular Genetics and Metabolism Reports, 2014 Tay–Sachs disease is an autosomal recessive neurodegenerative disorder occurring due to impaired activity of β-hexosaminidase-A (EC 3.2.1.52), resulting from the mutation in HEXA gene.
Jayesh Sheth +9 more
doaj +1 more source
Sphingolipids in Emotional Well‐Being
Journal of Neurochemistry, Volume 170, Issue 2, February 2026.Sphingolipids are essential constituents of neuronal membranes and are increasingly recognized as contributors to the key behavioral manifestations associated with emotional well‐being. ABSTRACT Emotional well‐being is a multifactorial concept, which comprises not only life quality of human individuals, but also their mental and physical health.
L. S. Kalinichenko +4 more
wiley +1 more source
Presentation of central precocious puberty in two patients with Tay-Sachs disease
, 2018 Tay-Sachs disease is an autosomal recessive type of lysosomal storage disorder. The disease is very rare in Turkey, with an incidence of 0.54/100,000.
BÖBER, ECE +6 more
core +1 more source
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
, 2018 Figure S1. Tay-Sachs disease induced pluripotent stem cells (iPSCs) generation and neuronal stem cells (NSCs) differentiation. Figure S2. Characterization of Tay-Sachs disease iPSCs. Figure S3.
Jeanette Beers (4181749) +17 more
core +1 more source
Abnormal gangliosides in Tay-Sachs disease, Niemann-Pick's disease, and gargoylism
Journal of Lipid Research, 1966 The molar ratios of N-acetyl neuraminic acid, hexose, hexosamine, and sphingosine have been determined for the abnormal ganglioside in Tay-Sachs disease that was previously detected as a fast-moving band in thin-layer chromatography, and in two abnormal ...
D.A. Booth, H. Goodwin, J.N. Cumings
doaj +1 more source
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
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
It's what's expected: genetic testing for inherited conditions, CHERE Discussion Paper No 46 [PDF]
The development of new genetic technology brings with it responsibility for evaluating the effectiveness and efficiency of testing programs, including gaining an understanding of the value of information.
Marion Haas +2 more
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Tay-Sachs disease: Diagnostic, modeling and treatment approaches
, 2020 © 2020, Human Stem Cell Institute. All rights reserved. Tay-Sachs disease (OMIM 272800) belongs to the group of autosomal-recessive disorders, caused by β-hexosaminidase A (HexA) enzyme deficiency, resulting in GM2-ganglioside accumu-lation in nervous ...
Chulpanova D.S. +4 more
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