Results 41 to 50 of about 3,309 (191)

Development of a Next-Generation Sequencing (NGS) Gene Panel for Lysosomal Storage Diseases [PDF]

, 2017
Molecular genetic testing has not been used extensively as the primary diagnostic test for LSDs but this may change with the advent of rapid, reliable and affordable high-throughput DNA sequencing, the so called next generation sequencing.
Alves, Sandra, Coutinho, Maria Francisca, Encarnação, Marisa, Nogueira, Célia, Ribeiro, Diogo, Silva, Lisbeth   +5 more
core   +5 more sources

Structural basis of the GM2 gangliosidosis B variant [PDF]

Journal of Human Genetics, 2003
To study the structural basis of the GM2 gangliosidosis B variant, we constructed the three-dimensional structures of the human beta-hexosaminidase alpha-subunit and the heterodimer of the alpha- and beta-subunits, Hex A, by homology modeling. The alpha-subunit is composed of two domains, domains I and II.
Fumiko, Matsuzawa, Sei-ichi, Aikawa, Hitoshi, Sakuraba, Hoang Thi Ngoc, Lan, Akemi, Tanaka, Kousaku, Ohno, Yuko, Sugimoto, Haruaki, Ninomiya, Hirofumi, Doi   +8 more
openaire   +2 more sources

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis

Free Neuropathology, 2023
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy.
Burkhard S Kasper, Christian Thomas, Anne Albers, Ekkehard Kasper, Konrad Sandhoff   +4 more
doaj   +3 more sources

Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses

Journal of Lipid Research, 2015
Bis(monoacylglycero)phosphate (BMP) is a negatively charged glycerophospholipid with an unusual sn-1;sn-1′ structural configuration. BMP is primarily enriched in endosomal/lysosomal membranes.
Zeynep Akgoc, Miguel Sena-Esteves, Douglas R. Martin, Xianlin Han, Alessandra d'Azzo, Thomas N. Seyfried   +5 more
doaj   +1 more source

GM2 Gangliosidosis (Tay-Sachs Disease), type I, Infantile Form: Clinical Case

Вопросы современной педиатрии
Background. GM2 gangliosidosis (Tay-Sachs disease, variant B, type I) is an orphan disease with autosomal recessive inheritance. It develops due to gangliosides accumulation in tissues and organs. The description of clinical case of GM2 gangliosidosis in
Artem A. Babkin, Vladimir A. Shcherbak, Elena V. Leontieva, Lada A. Kirii   +3 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

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Furukawa, K., Furukawa, K., Jacobs, B.C., Plomp, J.J., Todorov, B., Verschuuren, J.J., Willison, H.J., Zitman, F.M.P.   +7 more
core   +1 more source

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling

Molecular Genetics and Metabolism Reports, 2019
Gangliosidoses, including GM1-gangliosidosis and GM2-gangliosidosis (Tay-Sachs disease and Sandhoff disease), are lysosomal disorders resulting from enzyme deficiencies and accumulation of gangliosides.
Li Ou, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source

Patient and caregiver perspectives on burden of disease manifestations in late-onset Tay-Sachs and Sandhoff diseases

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, Ruth Pulikottil-Jacob, Camille Rochmann, Robert Krupnick, Chad Gwaltney, Nick Stephens, Julie Kissell, Gerald F. Cox, Tanya Fischer, Alaa Hamed   +9 more
doaj   +1 more source

Juvenile GM2 Gangliosidoses

Pediatric Neurology Briefs, 2006
Clinical features and genetic correlations of 21 new case histories and 134 published case reports of juvenile or subacute GM2 gangliosidosis were analyzed to delineate the natural history of the disorder, in a study at the Hospital for Sick Children ...
J Gordon Millichap
doaj   +1 more source