Results 31 to 40 of about 1,294 (181)

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

Human Mutation, Volume 43, Issue 12, Page 2265-2278, December 2022., 2022
Abstract A rare and fatal disease resembling mucopolysaccharidosis in infants, is caused by impaired intracellular endocytic trafficking due to deficiency of core components of the intracellular membrane‐tethering protein complexes, HOPS, and CORVET. Whole exome sequencing identified a novel VPS33A mutation in a patient suffering from a variant form of
Elena V. Pavlova, Dorit Lev, Marina Michelson, Keren Yosovich, Hila Gur Michaeli, Nicholas A. Bright, Paul T. Manna, Veronica Kane Dickson, Karen L. Tylee, Heather J. Church, J. Paul Luzio, Timothy M. Cox   +11 more
wiley   +1 more source

Late-onset Tay-Sachs disease [PDF]

, 2017
We discuss the assessment and differential diagnoses of a young adult Hungarian man with a 1-year history of a progressive and symmetric amyotrophic lateral sclerosis-like syndrome, along with irregular action tremor and stimulus-sensitive myoclonus of ...
Andrew W Barritt, Basil H Ridha, Bocchetta, Chen, Cooper-Knock, Elstein, Frey, Ghasemi, MacQueen, Neudorfer, Neudorfer, Osher, P Nigel Leigh, Shapiro, Stryer, Stuart J Anderson, Suzuki, Turner, Zaroff   +18 more
core   +1 more source

International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions

Epilepsia, Volume 63, Issue 6, Page 1443-1474, June 2022., 2022
Abstract The goal of this paper is to provide updated diagnostic criteria for the epilepsy syndromes that have a variable age of onset, based on expert consensus of the International League Against Epilepsy Nosology and Definitions Taskforce (2017–2021).
Kate Riney, Alicia Bogacz, Ernest Somerville, Edouard Hirsch, Rima Nabbout, Ingrid E. Scheffer, Sameer M. Zuberi, Taoufik Alsaadi, Satish Jain, Jacqueline French, Nicola Specchio, Eugen Trinka, Samuel Wiebe, Stéphane Auvin, Leonor Cabral‐Lim, Ansuya Naidoo, Emilio Perucca, Solomon L. Moshé, Elaine C. Wirrell, Paolo Tinuper   +19 more
wiley   +1 more source

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]

Journal of Lipid Research, 2018
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside.
Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses

BBA Advances, 2022
Tay-Sachs and Sandhoff diseases are genetic disorders resulting from mutations in HEXA or HEXB, which code for the α- and β-subunits of the heterodimer β-hexosaminidase A (HexA), respectively.
Graeme Benzie, Kristen Bouma, Taylor Battellino, Steven Cooper, Rick Hemming, Wafa Kammouni, Lin Liu, Cuong Do, Mazdak Khajehpour, Helene Perreault, Stuart Kornfeld, Barbara Triggs-Raine, Brian L. Mark   +12 more
doaj   +1 more source

Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model

Molecular Therapy: Methods & Clinical Development, 2019
GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia   +6 more
doaj   +1 more source

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

Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]

, 2006
Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline, Hiol, Abel, Miolan, Jean-Pierre, Niel, Jean-Pierre   +3 more
core   +1 more source

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

, 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.
Albers, Anne, Kasper, Burkhard S, Kasper, Ekkehard, Sandhoff, Konrad, Thomas, Christian   +4 more
core   +2 more sources

Critical role of iron in the pathogenesis of the murine gangliosidoses

Neurobiology of Disease, 2009
Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in ...
Mylvaganam Jeyakumar, Ian Williams, David A. Smith, Timothy M. Cox, Frances M. Platt   +4 more
doaj   +1 more source