Results 41 to 50 of about 20,780 (190)
Journal of Neonatal Nursing, 2020 Abstract Tay-Sachs disease (TSD) is a neurodegenerative disease that is caused by mutations in the HEXA gene. These mutation cause low or absent activity of the enzyme beta-hexosaminidase A which leads to GM2 build up in brain and spinal cells causing muscle weakness, regression of milestones, and difficulty with mobility.
openaire +2 more sources
Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. [PDF]
PLoS Genetics, 2010 Tay-Sachs disease is a severe lysosomal disorder caused by mutations in the HexA gene coding for the α-subunit of lysosomal β-hexosaminidase A, which converts G(M2) to G(M3) ganglioside. Hexa(-/-) mice, depleted of β-hexosaminidase A, remain asymptomatic
Volkan Seyrantepe +15 more
doaj +1 more source
Scholars Academic Journal of Pharmacy, 2021 Tay-Sachs disease is a rare hereditary disease that increasingly destroys nerve cells (neurons) in the brain and nerve structure. The foremost common variety of monogenic disorder becomes apparent in infancy. Babies with this disease usually look traditional till the age of three to six months, once their development slows and muscles used for movement
Gollapalli Eswari +4 more
openaire +1 more source
Tay Sachs-ова болест -приказ на случај [PDF]
, 2019 Tay Sachs's disease is a rare disorder, genetically inherited from parents of a child. It is caused by the absence of an enzyme that helps dissolve the fatty substances.
Golubovik Arsovska, Milena +1 more
core +2 more sources
Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.
PLoS ONE, 2020 β-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing β-linked hexosamines that enter the lysosome. GM2 gangliosidoses, such as Tay-Sachs and Sandhoff, are lysosomal storage disorders
Catlyn Cavender +8 more
doaj +1 more source
GM2-gangliosidosis, type I (Tay – Sachs disease) in the pediatrician practice
Педиатрическая фармакология, 2021 Background. GM2-gangliosidosis, type I (Tay-Sachs disease) is rare hereditary disease caused by mutations in the HEXA gene encoding the alpha subunit of lysosomal hexosaminidase A.
Natalia V. Zhurkova +5 more
doaj +1 more source
In cellulo examination of a beta-alpha hybrid construct of beta-hexosaminidase A subunits, reported to interact with the GM2 activator protein and hydrolyze GM2 ganglioside. [PDF]
PLoS ONE, 2013 The hydrolysis in lysosomes of GM2 ganglioside to GM3 ganglioside requires the correct synthesis, intracellular assembly and transport of three separate gene products; i.e., the alpha and beta subunits of heterodimeric beta-hexosaminidase A, E.C. # 3.2.1.
Incilay Sinici +7 more
doaj +1 more source
Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)
Journal of Lipid Research, 1967 The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
doaj +1 more source
Trials, 2021 Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields +22 more
doaj +1 more source
São Paulo Medical JournalCONTEXT: Tay-Sachs disease is an autosomal recessive disease characterized by progressive neurologic degeneration, fatal in early childhood. In the Ashkenazi Jewish population the disease incidence is about 1 in every 3,500 newborns and the carrier ...
Roberto Rozenberg +1 more
doaj +1 more source