Results 41 to 50 of about 1,277 (157)

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

Cells, 2020
(1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer   +6 more
doaj   +1 more source

GM1 and GM2 gangliosides: recent developments

Biomolecular Concepts, 2014
GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine, Pavone Francesco S., Calamai Martino   +2 more
doaj   +1 more source

Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]

, 2021
Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
core  

Achados de imagem na doença de Tay-Sachs: um relato de caso

Revista de Medicina da UFC, 2018
Objetivos: Revisar os achados de imagem característicos na doença de Tay-Sachs, um distúrbio autossômico recessivo raro. Metodologia: Relato de caso de um paciente do sexo masculino, de 1 ano e 6 meses de idade, com atraso no desenvolvimento ...
Suyane Benevides Franco, Pedro Henrique Sales Pontes, Elaine Fernandes Andrade Teixeira, Norma Martins de Menezes Morais, Daniel Aguiar Dias   +4 more
doaj   +1 more source

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