Results 71 to 80 of about 1,666 (186)

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease

Neurobiology of Disease, 2004
Sandhoff disease is a severe neurodegenerative glycosphingolipid (GSL) lysosomal storage disorder, currently without treatment options. One therapeutic approach under investigation is substrate reduction therapy (SRT).
Ulrika Andersson, David Smith, Mylvaganam Jeyakumar, Terry D Butters, Mario Cortina Borja, Raymond A Dwek, Frances M Platt   +6 more
doaj   +1 more source

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

GM1 - gangliosidosis in a Nigerian infant: A case report

Nigerian Journal of Paediatrics, 2021
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is caused by the deficiency of the acid beta galactosidase (GLB11) resulting in
Abdullahi M Sakina, Idris W Hafsat Hafsat, Sadiku A Halima, Abubakar El - ishaq   +3 more
doaj  

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

Analysis of carbohydrates and glycoconjugates by matrix‐assisted laser desorption/ionization mass spectrometry: An update for 2021–2022

Mass Spectrometry Reviews, Volume 44, Issue 3, Page 213-453, May/June 2025.
Abstract The use of matrix‐assisted laser desorption/ionization (MALDI) mass spectrometry for the analysis of carbohydrates and glycoconjugates is a well‐established technique and this review is the 12th update of the original article published in 1999 and brings coverage of the literature to the end of 2022.
David J. Harvey
wiley   +1 more source

The Modernization of the Autopsy: Application of Ultrastructural and Biochemical Methods to Human Disease [PDF]

, 1973
The autopsy has provided, and still provides, the stimulus for many attempts to reproduce disease in experimental animal models. This approach has become increasingly difficult, however, in the case of human disease, principally shock.
Cowley, R. Adams, Dees, Jane H., Garbus, Joel, Garcia, Julio H., Jones, Raymond T., Kalimo, Hannu, Kamijyo, Yoshinari, Kim, Kook M., Mergner, Wolfgang J., Pendergrass, Robert E., Tanaka, Junichi, Trump, Benjamin F., Valigorsky, Jon M., Viloria, Jesus E.   +13 more
core   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman   +2 more
wiley   +1 more source

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.
Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská, Igor Nestrašil, Alia Ahmed, Monica T. Bondy, Jiří Klempíř, Helena Jahnová, Susanne A. Schneider, Dana Horáková, Jan Krásenský, Pavel Ješina, Manuela Vaneckova, David R. Nascene, Chester B. Whitley, Jeanine R. Jarnes, Martin Magner, Petr Dušek   +15 more
wiley   +1 more source

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

Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review

Annals of Clinical and Translational Neurology, Volume 11, Issue 1, Page 207-224, January 2024.
Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this.
Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen   +7 more
wiley   +1 more source