Results 101 to 110 of about 3,090 (194)

Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]

Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...

core   +2 more sources

Lyso-GM2 Ganglioside : A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease [PDF]

, 2011
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
00184656, 00423400, 10943/profile-ja.html, 166, 202, Ishida, Yo-ichi, Itou, Kouji, Kawashima, Ikuo, Kitakaze, Keisuke, Kodama, Takashi, Matsuoka, Kazuhiko, Sakuraba, Hitoshi, Suzuki, Minoru, Suzuki, Toshihiro, Togawa, Tadayasu, Tsuji, Daisuke, Tsukimura, Takahiro, イトウ, コウジ, ツジ, ダイスケ, 伊藤, 孝司, 辻, 大輔   +20 more
core  

AAV-based gene therapy with modified HEXB confers lasting therapeutic benefits in GM2 gangliosidosis models

Cell Reports Medicine
Summary: GM2 gangliosidoses, including Tay-Sachs (TSD) and Sandhoff (SD) diseases, are lysosomal storage disorders with neurological manifestations caused by the excessive accumulation of GM2 ganglioside due to the deficiency of the β-hexosaminidase A ...
Keisuke Kitakaze, Yukiya Ohnishi, Daisuke Tsuji, Ryosuke Watanabe, Nijiho Kamori, Yuko Katakai, Hiroaki Shibata, Sota Yoshizawa, Mika Ito, Naomi Takino, Shin-ichi Muramatsu, Kohji Itoh   +11 more
doaj   +1 more source

Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis. [PDF]

J Neurol, 2021
Hölzer HT, Boschann F, Hennermann JB, Hahn G, Hermann A, von der Hagen M, Tüngler V.   +6 more
europepmc   +1 more source

Bony Abnormalities in Feline Models of GM2 Gangliosidosis [PDF]

, 2014
This study seeks to explore and quantify bony deformities in feline models affected with GM2 gangliosidosis with emphasis on long bones and cervical vertebrae, based on previous diagnostics exhibiting cervical spinal cord compression, luxating ...
Beadlescomb, Patricia
core  

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

In silico analysis of the effects of disease-associated mutations of β-hexosaminidase A in Tay‒Sachs disease [PDF]

, 2020
Fazal, Mohammad Ihsan, Kacprzyk, Rafal, Timson, David J.   +2 more
core   +1 more source

GM2 gangliosidosis, AB variant [PDF]

, 2020
openaire   +3 more sources

Systematic review of autosomal recessive ataxias and proposal for a classification [PDF]

, 2017
Christopher J. Klein, Guy A. Rouleau, Marie Beaudin, Nicolas Dupré   +3 more
core   +1 more source

Elevated plasma chitotriosidase activity in various lysosomal storage disorders [PDF]

, 1995
Aerts, J.M.F.G. (Johannes), Boer, A.M., Bruijn, A.M. (A.) de, Diggelen, O.P. (Otto) van, Galjaard, H. (Hans), Groener, J.E.M. (Johanna), Guo, Y. (Yongli), He, W. (Wanyuan), Hollak, C.E.M. (Carla), Wevers, R.A. (Ron)   +9 more
core   +1 more source