Results 41 to 50 of about 6,608 (209)

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

Farber disease: clinical presentation, pathogenesis and a new approach to treatment [PDF]

, 2007
Background Farber Disease is an autosomal-recessively inherited, lysosomal storage disorder caused by acid ceramidase deficiency and associated with distinct clinical phenotypes.
Karoline Ehlert, Michael Frosch, Natalja Fehse, Axel Zander, Johannes Roth, Josef Vormoor   +5 more
core   +2 more sources

Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]

, 2014
Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V, Hoehndorf, Robert, Schofield, Paul N   +2 more
core   +2 more sources

Induced secretion of β-hexosaminidase by human brain endothelial cells: A novel approach in Sandhoff disease?

Neurobiology of Disease, 2010
Sandhoff disease is an autosomal recessive lysosomal disorder due to mutations in the β-hexosaminidase β-chain gene, resulting in β-hexosaminidases A (αβ) and B (ββ) deficiency and GM2 ganglioside accumulation in the brain.
Lionel Batista, Florence Miller, Céline Clave, Audrey Arfi, Gaëlle Douillard-Guilloux, Pierre-Olivier Couraud, Catherine Caillaud   +6 more
doaj   +1 more source

Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients [PDF]

Iranian Journal of Public Health, 2012
Background: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of GM2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles.
H Aryan, O Aryani, K Banihashemi , T Zaman, M Houshmand   +4 more
doaj   +1 more source

Neuromuscular synaptic function in mice lacking major subsets of gangliosides [PDF]

, 2008
Gangliosides are a family of sialylated glycosphingolipids enriched in the outer leaflet of neuronal membranes, in particular at synapses. Therefore, they have been hypothesized to play a functional role in synaptic transmission.
Ando, Ang, B. Todorov, B.C. Jacobs, Buchwald, Bullens, Chamberlain, Chen, Chiavegatto, Desplats, Egorushkina, F.M.P. Zitman, Fishman, Furuse, Gong, Green, H.J. Willison, Hakomori, Halstead, Halstead, Hashiramoto, Inoue, Isaev, J.J. Plomp, J.J. Verschuuren, K. Furukawa, K. Furukawa, Kaja, Kappel, Kawai, Lang, Ledeen, Ledeen, Liu, Magleby, Marconi, McLachlan, Meir, Nakatani, Ngamukote, O'Hanlon, Okada, Ortiz, Plomp, Proia, Rahmann, Ramirez, Roth, Salaun, Santafe, Sheikh, Simpson, Sohn, Sonnino, Stevens, Sugiura, Susuki, Svennerholm, Takamiya, Tanaka, Taverna, Tettamanti, Varoqueaux, Wang, Wieraszko, Willison, Wood, Wu, Wu, Wu, Wu, Yamashita, Yates   +72 more
core   +1 more source

Natural history of motor neuron disease in adult onset GM2-gangliosidosis: A case report with 25 years of follow-up

Molecular Genetics and Metabolism Reports, 2014
An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement.
Mauro Scarpelli, Giuliano Tomelleri, Laura Bertolasi, Alessandro Salviati   +3 more
doaj   +1 more source

Lysosomal storage disorders: Clinical, biochemical and molecular profile from rare disease centre, India

Annals of Indian Academy of Neurology, 2021
Introduction: Lysosomal storage disorders (LSDs) are a heterogeneous group of large molecule inborn errors of metabolism, rather commonly seen by clinician.
Manisha Goyal, Ashok Gupta
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

Inter‐rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome

Epileptic Disorders, EarlyView.
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
T. P. Cramer, B. Johnsen, V. S. Hansen, E. Qerama, T. S. Engedal   +4 more
wiley   +1 more source