Results 51 to 60 of about 9,234 (203)

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

, 2023
GM1 gangliosidosis is a rare lysosomal storage disorder affecting multiple organ systems, primarily the central nervous system, and is caused by functional deficiency of β-galactosidase (GLB1). Using CRISPR/Cas9 genome editing, we generated a mouse model
Nicoli, Elena-Raluca, Peiravi, Morteza, Kolstad, Josephine, Kell, Pamela, Glase, Brianna, Kuhn, Anna Luisa, Sidhu, Rohini, Shazeeb, Mohammed Salman, Latour, Yvonne, Munasinghe, Jeeva, Lizak, Martin, Yoon, Robin, Springer, Danielle, Han, Sangwoo T, Acosta, Maria T, Tifft, Cynthia J, Huebecker, Mylene, Priestman, David, Baker, Eva H, Platt, Frances M, Jiang, Xuntian, Proia, Richard L, Garcia, Karolyn, Tyrlik, Michal   +23 more
core   +1 more source

Clinical findings in Brazilian patients with adult GM1 gangliosidosis

JIMD Reports, 2019
GM1 gangliosidosis is a lysosomal storage disorder caused by β‐galactosidase deficiency. To date, prospective studies for GM1 gangliosidosis are not available, and only a few have focused on the adult form.
Luciana Giugliani, Carlos Eduardo Steiner, Chong Ae Kim, Charles Marques Lourenço, Mara Lucia Schmitz Ferreira Santos, Carolina Fischinger Moura deSouza, Ana Carolina Brusius‐Facchin, Guilherme Baldo, Mariluce Riegel, Roberto Giugliani   +9 more
doaj   +1 more source

Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

BMC Medical Genetics, 2017
Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly.
Parvaneh Karimzadeh, Samaneh Naderi, Farzaneh Modarresi, Hassan Dastsooz, Hamid Nemati, Tayebeh Farokhashtiani, Bibi Shahin Shamsian, Soroor Inaloo, Mohammad Ali Faghihi   +8 more
doaj   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, Volume 15, Issue 18, 15 May 2026.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

SERS‐Based Nano‐ and Microsystems Toward Biomedical Applications

Small, Volume 22, Issue 28, 18 May 2026.
This review provides a current overview of nano‐ and microscale SERS‐based devices, encompassing all aspects from material design to practical applications. We highlight controlled SERS‐active architectures, including patterned substrates, nanorods, microspheres, micromotors, and microneedles, as well as combinations of these microfluidic systems.
Gohar Soufi, Tijana Maric, Isidro Badillo‐Ramírez, Juliane Fjelrad Christfort, Matteo Tollemeto, Carmen Milan Guimera, Casper Nisula, Giulia Zappalá, Laura De Vittorio, Marta Rubio‐Huertas, Sungyeong Kim, Ziqiao Li, Morten Bo Søndergaard Svendsen, Zhongyang Zhang, Anja Boisen   +14 more
wiley   +1 more source

β-Galactosidase Deficiency in Colombia

Journal of Inborn Errors of Metabolism and Screening, 2015
β-Galactosidase (BGal) is the first enzyme involved in the catabolism of sphingolipids. Two pathologies have been directly associated with its deficiency: GM1 gangliosidosis and Morquio B. Morquio B is among the rarest types of mucopolysaccharidosis (MPS)
Alfredo Uribe PhD, Adis Ayala MSc, Monica España MSc, Isidro Arevalo MSc, Natalia Pacheco MSc, Lina M. Jay Garcia MSc   +5 more
doaj   +1 more source

Morphological analysis of corneal opacity in Shiba dog with GM1 gangliosidosis [PDF]

, 2008
ArticleGM1 gangliosidosis is one of the inherited metabolic lysosomal storage disorders characterized by neurological symptoms caused by β-galactosidase deficiency and consequent accumulation of GM1 ganglioside in neuronal cells. Shiba dogs affected with
6483, 6485, NAGAYASU, Aya, 6484, NAKAMURA, Taito, 6487, 9436, 6486, 植田, 弘美, 6488, HOSAKA, Yoshinao, UEDA, Hiromi, TAKEHANA, Kazushige, TANGKAWATTANA, Prasarn, TSUZUKI, Keiko, da802e47c9b2cc7eaaf5c69bf1b24b91, 4637, YAMATO, Osamu, 4638   +18 more
core   +1 more source

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model. [PDF]

Int J Mol Sci
GM1 gangliosidosis is a lysosomal storage disorder characterized by the accumulation of GM1 ganglioside, leading to severe neurodegeneration and early mortality.
Liu S, Xie T, Huang Y.
europepmc   +2 more sources

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis)

Journal of Lipid Research, 1967
The carbohydrate composition was determined for ceramide hexosides isolated from brains of patients with Tay-Sachs disease and generalized gangliosidosis (hereby named GM1-gangliosidosis).Gray matter of patients with each disease showed a characteristic ...
Kunihiko Suzuki, Gloria C. Chen
doaj   +1 more source

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis

Molecules, 2022
GM1 gangliosidosis is a rare lysosomal disease caused by the deficiency of the enzyme β-galactosidase (β-Gal; GLB1; E.C. 3.2.1.23), responsible for the hydrolysis of terminal β-galactosyl residues from GM1 ganglioside, glycoproteins, and ...
Francesca Clemente, Macarena Martínez-Bailén, Camilla Matassini, Amelia Morrone, Silvia Falliano, Anna Caciotti, Paolo Paoli, Andrea Goti, Francesca Cardona   +8 more
doaj   +1 more source