Results 31 to 40 of about 1,188 (166)

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]

, 2016
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Kitakaze, Keisuke, Tasaki, Chikako, Hirokawa, Takatsugu, Tsuji, Daisuke, Itoh, Kohji, Tajima, Youichi, Sakuraba, Hitoshi   +6 more
core   +3 more sources

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C. [PDF]

J Inherit Metab Dis
ABSTRACT In 2018, the International Niemann‐Pick Disease Alliance (INPDA) and the International Niemann‐Pick Disease Registry (INPDR) developed and published comprehensive clinical management guidelines to support inclusive and standardized care pathways in Niemann‐Pick disease type C (NPC)—an ultra‐rare, autosomal recessive, neurovisceral lysosomal ...
Hiwot T, Porter FD, Bremova-Ertl T, Ramaswami U, Hastings C, Héron B, Hopkin J, Melville J, Amartino H, Del Toro M, Deodato F, Ezgü F, Gissen P, Gibson JB, Ficicioglu C, Giugliani R, Staretz-Chacham O, Platt F, Guffon N, Julich K, Kresojević N, Lehman A, Nadjar Y, Schneider SA, Jones S, Mengel E, Tchan M, Walterfang M, Goker-Alpan O, Dawson C, Cowie S, Mathieson T, Berry-Kravis E, Patterson MC.   +33 more
europepmc   +2 more sources

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

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

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

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

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

Overcoming Toxicity from Transgene Overexpression Through Vector Design in AAV Gene Therapy for GM2 Gangliosidoses [PDF]

, 2017
GM2 gangliosidoses are a family of lysosomal storage disorders that include both Tay-Sachs and Sandhoff diseases. These disorders result from deficiencies in the lysosomal enzyme β-N-acetylhexosaminidase (HexA).
Golebiowski, Diane L.
core   +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

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