Results 41 to 50 of about 6,691 (192)

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

O-GlcNAcase:promiscuous hexosaminidase or key regulator of O-GlcNAc signalling? [PDF]

, 2014
O-GlcNAc signaling is regulated by an opposing pair of enzymes: O-GlcNAc transferase installs and O-GlcNAcase (OGA) removes the modification from proteins.
Banerjee, Butkinaree, Cantarel, Cecioni, Cetinba, Comtesse, Copeland, Dennis, Dong, Dorfmueller, Dorfmueller, Drougat, Forsythe, Francisco, Gao, Gong, Graham, Guinez, Hanover, Hart, Hayakawa, He, He, Heckel, Hilgers, Housley, Howerton, Hu, Itkonen, Keembiyehetty, Knapp, Laczy, Lefebvre, Lepage, Libina, Liu, Macauley, Macauley, Macauley, Macauley, Macauley, Mahuran, Martin, Minami, Müller, Nagel, Olszewski, Ostrowski, Pathak, Penton, Radermacher, Rahman, Rao, Rao, Robinson, Ruan, Ruan, Schimpl, Schimpl, Schultz, Sekine, Shen, Slawson, Speakman, Stryke, Swallow, Tews, Toleman, Toleman, Torres, Wang, Wang, Webster, Wells, Whisenhunt, Whitworth, Yang, Yu, Yuzwa, Yuzwa, Zachara, Zachara, Zhu   +82 more
core   +3 more sources

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

Apoptotic signaling through CD95 (Fas/Apo-1) activates an acidic sphingomyelinase. [PDF]

, 1994
Intracellular pathways leading from membrane receptor engagement to apoptotic cell death are still poorly characterized. We investigated the intracellular signaling generated after cross-linking of CD95 (Fas/Apo-1 antigen), a broadly expressed cell ...
Azuma, M, Cifone, MG, De Maria, R, Lanier, LL, Rippo, MR, Roncaioli, P, Santoni, A, Testi, R   +7 more
core   +2 more sources

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source

Construction of a hybrid β-hexosaminidase subunit capable of forming stable homodimers that hydrolyze GM2 ganglioside in vivo

Molecular Therapy: Methods & Clinical Development, 2016
Tay-Sachs or Sandhoff disease result from mutations in either the evolutionarily related HEXA or HEXB genes encoding respectively, the α- or β-subunits of β-hexosaminidase A (HexA). Of the three Hex isozymes, only HexA can interact with its cofactor, the
Michael B Tropak, Sayuri Yonekawa, Subha Karumuthil-Melethil, Patrick Thompson, Warren Wakarchuk, Steven J Gray, Jagdeep S Walia, Brian L Mark, Don Mahuran   +8 more
doaj   +1 more source

Perturbed cholesterol and vesicular trafficking associated with dengue blocking in Wolbachia-infected Aedes aegypti cells [PDF]

, 2017
Wolbachia are intracellular maternally inherited bacteria that can spread through insect populations and block virus transmission by mosquitoes, providing an important approach to dengue control.
Ant, Thomas H., Charles, Philip D., Dowle, Adam A., Geoghegan, Vincent, Hester, Svenja, Larson, Tony, Rainey, Stephanie M., Sinkins, Steven P., Stainton, Kirsty, Thomas, Benjamin   +9 more
core   +6 more sources

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

PLoS ONE
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency.
Manuel E Lopez, Daniel Wendt, Roger Lawrence, Kerui Gong, Hoonsan Ong, Bryan Yip, Joseph Chen, Linley Mangini, Britta Handyside, Alexander Giaramita, Aashish Lamichhane, Melanie Lo, Vishal Agrawal, Jeremy Van Vleet, Amanda Abolhesn, Jessica B Felix, Isaac Villalpando, Vikas Bhat, Rolando De Angelis, Yuanbin Ru, Ayesha Khan, Sylvia Fong, Terri Christianson, Sherry Bullens, Brett E Crawford, Stuart Bunting, Mika Aoyagi-Scharber   +26 more
doaj   +1 more source

The physiological and pathological effects of sphingolipid metabolism and signaling in the central nervous system

Brain Pathology, Volume 36, Issue 1, January 2026.
Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li, Haoying He, Ejuan Zhang, Fengjiao Hu, Zhuo Wang, Jian Xu, Mengliu Zeng, Biwen Peng   +7 more
wiley   +1 more source