Results 61 to 70 of about 4,196 (206)

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

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

Knockout of lysosomal enzyme-targeting gene causes abnormalities in mouse pup isolation calls [PDF]

, 2017
Humans lacking a working copy of the GNPTAB gene suffer from the metabolic disease Mucolipidosis type II (MLII). MLII symptoms include mental retardation, skeletal deformities and cartilage defects as well as a speech delay with most subjects unable to ...
Barnes, Terra D, Holy, Timothy E
core   +2 more sources

First Reported Case of CLN5 Disease in Japan: Identification of a Novel Homozygous Pathogenic Variant Through Whole Genome Sequencing

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuronal ceroid lipofuscinoses (NCL) belong to a group of inherited neurodegenerative diseases characterized by psychomotor regression, seizures, and visual impairment, resulting from intracellular accumulation of lipofuscin. CLN5, a subtype typically manifesting between ages 4 to 17, is particularly rare in non‐Finnish populations.
Eriko Nishi, Kumiko Yanagi, Morimasa Shima, Naoko Yamazaki, Kazumi Kawato, Aya Narita, Norio Sakai, Nobuhiko Okamoto, Keiko Yanagihara, Tadashi Kaname   +9 more
wiley   +1 more source

Altered GM1 catabolism affects NMDAR-mediated Ca2+ signaling at ER-PM junctions and increases synaptic spine formation in a GM1-gangliosidosis model

Cell Reports
Summary: Endoplasmic reticulum-plasma membrane (ER-PM) junctions mediate Ca2+ flux across neuronal membranes. The properties of these membrane contact sites are defined by their lipid content, but little attention has been given to glycosphingolipids ...
Jason A. Weesner, Ida Annunziata, Diantha van de Vlekkert, Camenzind G. Robinson, Yvan Campos, Ashutosh Mishra, Leigh E. Fremuth, Elida Gomero, Huimin Hu, Alessandra d’Azzo   +9 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

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

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency [PDF]

, 2021
INTRODUCTION: This study aims to define the phenotypic and molecular spectrum of the two clinical forms of β-galactosidase (β-GAL) deficiency, GM1-gangliosidosis and mucopolysaccharidosis IVB (Morquio disease type B, MPSIVB).
Al Khouri, M, Alembik, Y, Arnoux, J-B, Baruteau, J, Bekri, S, Brassier, A, Brehin, A-C, Busa, T, Caillaud, C, Cano, A, Chabrol, B, Coubes, C, Coutant, S, Dabaj, I, Desguerre, I, Doco-Fenzy, M, Domitille, L, Dranguet, H, Drenou, B, Elcioglu, NH, Elsayed, S, Fouilhoux, A, Froissart, R, Goldenberg, A, Heron, B, Jouvencel, P, Kuster, A, Labarthe, F, Lazaro, L, Levade, T, Marret, S, Pichard, S, Poirsier, C, Rivera, S, Roche, S, Roggerone, S, Roubertie, A, Saugier-Veber, P, Sigaudy, S, Snanoudj, S, Spodenkiewicz, M, Sudrié-Arnaud, B, Tardieu, M, Tebani, A, Torre, S, Vanhulle, C, Vergnaud, S   +46 more
core  

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

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C

Biomedicines, 2022
Background: Early diagnosis is essential in the field of lysosomal storage disorders for the proper management of patients and for starting therapies before irreversible damage occurs, particularly in neurodegenerative conditions.
Claudia Capitini, Federica Feo, Anna Caciotti, Rodolfo Tonin, Matteo Lulli, Domenico Coviello, Renzo Guerrini, Martino Calamai, Amelia Morrone   +8 more
doaj   +1 more source