Results 31 to 40 of about 2,912 (167)

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

PLoS ONE, 2013
Several reports have described magnetic resonance (MR) findings in canine and feline lysosomal storage diseases such as gangliosidoses and neuronal ceroid lipofuscinosis.
Daisuke Hasegawa, Shinji Tamura, Yuya Nakamoto, Naoaki Matsuki, Kimimasa Takahashi, Michio Fujita, Kazuyuki Uchida, Osamu Yamato   +7 more
doaj   +1 more source

The juvenile gangliosidoses: A timeline of clinical change

Molecular Genetics and Metabolism Reports, 2020
Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses

Neural Regeneration Research, 2022
Tay-Sachs disease and Sandhoff disease are severe hereditary neurodegenerative disorders caused by a deficiency of β-hexosaminidase A (HexA) enzyme, which results in the accumulation of GM2 gangliosides in the nervous system cells.
Alisa A Shaimardanova, Daria S Chulpanova, Valeriya V Solovyeva, Aleksandr M Aimaletdinov, Albert A Rizvanov   +4 more
doaj   +1 more source

Biomarkers for predicting disease course in Sanfilippo syndrome: An urgent unmet need in childhood‐onset dementia

Journal of Neurochemistry, Volume 166, Issue 3, Page 481-496, August 2023., 2023
Peripherally accessible biomarkers are urgently required to provide a prognosis for children with pre‐symptomatic Sanfilippo syndrome, enabling early trial/treatment access and optimal outcomes. Furthermore, clinical trials require biomarkers to better stratify patients into treatment groups and measure neurocognitive outcomes.
Leanne K. Winner, Mary‐Louise Rogers, Marten F. Snel, Kim M. Hemsley   +3 more
wiley   +1 more source

Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses [PDF]

Journal of Clinical Investigation, 2004
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage disorder known as Sandhoff disease (SD). Hexb(-/-) mice rapidly develop a progressive neurologic disease of ganglioside GM2 and GA2 storage.
Akira, Yamaguchi, Kayoko, Katsuyama, Kiyotaka, Nagahama, Toshiyuki, Takai, Ichiro, Aoki, Shoji, Yamanaka   +5 more
openaire   +2 more sources

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

Supplementary information: CRISPR/nCas9-based genome editing on GM2 gangliosidoses fibroblasts via non-viral vectors

, 2022
Supplementary information for the manuscript "CRISPR/nCas9-based genome editing on GM2 gangliosidoses fibroblasts via non-viral vectors" submitted to the International Journal of Molecular Sciences.
Leal, Andrés, Reyes, Luis Humberto, Quezada, Valentina, Alméciga-Díaz, Carlos Javier, Benincore-Flórez, Eliana, Cruz, Juan Carlos, Cifuentes, Javier, Espejo-Mojica, Angela   +7 more
core   +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

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

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