Results 41 to 50 of about 2,653 (156)

Brain β-Galactosidase and Gm1 Gangliosidosis [PDF]

Pediatric Research, 1974
Extract: Several properties of β-galactosidase obtained from brains of controls and patients with Gm1 gangliosidosis types I and II were studied. The pH optimum of β-galactosidase was 4 in both fetal and control brain. In contrast, the pH optimum of brain β-galactosidase in patients with either type I or type II Gm1 gangliosidosis was 3. The residual β-
L, Chou, C I, Kaye, H L, Nadler
openaire   +2 more sources

Neurofilament Light Chain (Nfl) Level in Serum as a Suitable In Vivo Biomarker for Axonal Damage in a Murine Viral Model of Multiple Sclerosis

Journal of Cellular and Molecular Medicine, Volume 30, Issue 15, August 2026.
ABSTRACT Neurofilament light chain (Nfl) is a protein of the cytoskeleton predominantly found in large calibre myelinated axons and a suitable in vivo biomarker for monitoring neurodegenerative processes. Axonal damage results in Nfl release into the cerebrospinal fluid and the blood stream.
A. Segna, R. Wannemacher, K. Rohn, V. Sippel, M. A. Steiner, F. Lühder, A. Flügel, W. Baumgärtner, K. Hülskötter   +8 more
wiley   +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

Characterization of glycan substrates accumulating in GM1 Gangliosidosis

Molecular Genetics and Metabolism Reports, 2019
Introduction: GM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the GLB1 gene that encodes β-galactosidase, a lysosomal hydrolase that removes β-linked galactose from the non-reducing end of glycans. Deficiency
Roger Lawrence, Jeremy L. Van Vleet, Linley Mangini, Adam Harris, Nathan Martin, Wyatt Clark, Sanjay Chandriani, Jonathan H. LeBowitz, Roberto Giugliani, Alessandra d'Azzo, Gouri Yogalingam, Brett E. Crawford   +11 more
doaj   +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

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

GM1-generalized gangliosidosis variant with cardiomegaly [PDF]

Postgraduate Medical Journal, 1976
SummaryA female infant with generalized GM1-gangliosidosis differing in several aspects from previously reported cases is described. Clinically she is the first case to have cardiomegaly, unilateral congenitial dislocation of the hip and normal facial appearance.
P F, Benson, A, Barbarik, S P, Brown, T P, Mann   +3 more
openaire   +2 more sources