Results 51 to 60 of about 5,278 (187)

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

Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis [PDF]

, 2007
Background Sandhoff disease is an inherited lysosomal storage disease caused by a mutation in the gene for the β-subunit (Hexb gene) of β-hexosaminidase A (αβ) and B (ββ).
A Federico, C Taylor, CA Denny, Daniel A Kirschner, EC Hauser, EM Kaye, F Norflus, FM Platt, Gary R Strichartz, H Inouye, J Folch, JL Kasperzyk, JQ Huang, K Sango, K Sango, KH Chou, L Svennerholm, L Wrabetz, LJ Macala, M Jeyakumar, M Mondelli, M Ohsawa, Melanie A McNally, MS Salman, PJ Meikle, R Wada, RA Gravel, RA Kroll, RC Baek, Rena C Baek, RL Avila, RL Proia, Robin L Avila, Thomas N Seyfried, TN Seyfried, TN Seyfried, U Andersson, W Koelfen, X Yin   +38 more
core   +6 more sources

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

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

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

, 2020
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 ...
Hirokawa, Takatsugu, Itoh, Kohji, Kitakaze, Keisuke, Sakuraba, Hitoshi, Tajima, Youichi, Tasaki, Chikako, Tsuji, Daisuke   +6 more
core  

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind

Frontiers in Molecular Biosciences, 2020
The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
doaj   +1 more source

A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]

, 2010
Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús, Barboza Quintana, Oralia, Barboza Quintana, Álvaro, Garza Alatorre, Arturo Gerardo, Melo de la Garza, Américo, Ponce Camacho, Marco Antonio, Ramírez Bon, Enrique, Rodríguez Gutiérrez, Nora Alicia   +7 more
core  

A Case Report of Sandhoff Disease [PDF]

, 2010
Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease.
A Yüksel, A. Hanine, B Wilken, CJ Hendriksz, H. Boumdin, JP Lowe, K Hittmair, LG Gutierrez-Solana, M. Mahi, MC Nassogne, O. Agader, R. Abilkacem, R. Saouab, S. Chaouir, T Autti, T. Amil, W Kölfen   +16 more
core   +2 more sources

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Aberrant Ganglioside Functions to Underpin Dysregulated Myelination, Insulin Signalling, and Cytokine Expression: Is There a Link and a Room for Therapy? [PDF]

, 2022
Gangliosides are molecules widely present in the plasma membranes of mammalian cells, participating in a variety of processes, including protein organization, transmembrane signalling and cell adhesion. Gangliosides are abundant in the grey matter of the
de Munter, Johannes, Kalueff, Allan V, Morozov, Sergey, Sheveleva, Elisaveta, Strekalova, Tatyana, Svirin, Evgeniy, Svistunov, Andrei, Umriukhin, Aleksei, Walitza, Susanne   +8 more
core   +1 more source