Results 31 to 40 of about 12,643 (191)

Patient-Derived Phenotypic High-Throughput Assay to Identify Small Molecules Restoring Lysosomal Function in Tay-Sachs Disease. [PDF]

SLAS Discov, 2019
Colussi DJ, Jacobson MA.
europepmc   +2 more sources

Tay – Sachs Disease

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, Simhavalli. Godavarthi, Sneha Kuraman, Malla. Jnaapika, V. C. Randeep Raj   +4 more
openaire   +1 more source

Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease [PDF]

, 2015
Background: Globally, about five per cent of children are born with congenital or genetic disorders. The most common autosomal recessive conditions are thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease, with higher carrier rates in
Abbot, Alhamdan, Alswaidi, Alwan, American College of Obstetricians and Gynecologists, Angastiniotis, Angastiniotis, Angastiniotis, Anido, Bach, Barbarin, Bekker, Bekker, Bell, Bonham, Borry, Boulton, Bregnballe, Callanan, Cao, Castellani, Castellani, Cheuvront, Childs, Childs, Christie, Clayton, Czeizel, Davies, Donner, Dormandy, Dyson, Fanos, Fisher, Fowzan, Gharaibeh, Glasscoe, Hegwer, Henneman, Henneman, Henneman, Heyes, Higgins, Honnor, Jones, Kaback, Kenen, Lakeman, Lapham, Lau, Lena-Russo, Lew, Lewis, Locock, Loukopoulos, Massie, Mennie, Mitchell, Modell, Modell, Modell, Modell, Palomaki, Payne, Peters, Petersen, Poppelaars, Qureshi, Ratip, Rose P. Humm, Rowley, Rowley, Samavat, Shapira, Smith, Tambor, Teeuw, Telfer, Ukoumunne, Watson, Watson, Watson, Weatherall, Whitten, Wilkie, Wille, Wilson, Yusuf, Zeesman, Zeuner   +89 more
core   +1 more source

TAY-SACHS DISEASE HETEROZYGOTE SELECTION [PDF]

, 1978
PIRACICABA UNIV,FAC MED,DEPT PEDIAT,CAMPINAS,BRAZILUNIV São Paulo,FAC MED,DEPT NEUROL,São Paulo,BRAZILWeb of ...
Diamet, A. J., Nishimura, R., Schmidt, Benjamin Jose, Wakamoto, M.   +3 more
core   +1 more source

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source

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, Pablo Lema, Aurore Caqueret, Larbi Dridi, Samar Bel Hadj, Stephane Carpentier, Francine Boucher, Thierry Levade, Lionel Carmant, Roy A Gravel, Edith Hamel, Pascal Vachon, Graziella Di Cristo, Jacques L Michaud, Carlos R Morales, Alexey V Pshezhetsky   +15 more
doaj   +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, Isjanovski, Igor   +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, Linley Mangini, Jeremy L Van Vleet, Carley Corado, Emma McCullagh, Heather L Gray-Edwards, Douglas R Martin, Brett E Crawford, Roger Lawrence   +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, Nato D. Vashakmadze, Natella V. Sukhanova, Olga B. Gordeeva, Natalia S. Sergienko, Ekaterina Yu. Zaharova   +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, Sayuri Yonekawa, Ilona Tkachyova, Steven J Gray, R Jude Samulski, Warren Wakarchuk, Brian L Mark, Don J Mahuran   +7 more
doaj   +1 more source