Results 21 to 30 of about 2,424 (142)

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

Cell Rep
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 ...
Weesner JA, Annunziata I, van de Vlekkert D, Robinson CG, Campos Y, Mishra A, Fremuth LE, Gomero E, Hu H, d'Azzo A.   +9 more
europepmc   +2 more sources

Enzyme-responsive polymersomes ameliorate autophagic failure in a cellular model of GM1 gangliosidosis

Frontiers in Chemical Engineering, 2022
GM1 gangliosidosis is a lysosomal storage disorder caused by deficiency of β-galactosidase (βgal) and subsequent accumulation of GM1 ganglioside in lysosomes. One of the pathological aspects of GM1 gangliosidosis, and other storage disorders, is impaired
Bipin Chakravarthy Paruchuri, Sarah Smith, Jessica Larsen, Jessica Larsen   +3 more
doaj   +1 more source

AAVrh10 vector corrects pathology in animal models of GM1 gangliosidosis and achieves widespread distribution in the CNS of nonhuman primates. [PDF]

Mol Ther Methods Clin Dev, 2022
GM1 gangliosidosis is a rare, inherited neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes the lysosomal hydrolase acid β-galactosidase (β-gal). β-gal deficiency leads to toxic accumulation of GM1 ganglioside, predominantly in
Hocquemiller M, Giersch L, Mei X, Gross AL, Randle AN, Gray-Edwards HL, Hudson JA, Todeasa S, Stoica L, Martin DR, Sena-Esteves M, Aiach K, Laufer R.   +12 more
europepmc   +2 more sources

A Case for Automated Segmentation of MRI Data in Neurodegenerative Diseases: Type II GM1 Gangliosidosis. [PDF]

NeuroSci
Background: Volumetric analysis and segmentation of magnetic resonance imaging (MRI) data is an important tool for evaluating neurological disease progression and neurodevelopment. Fully automated segmentation pipelines offer faster and more reproducible
Lewis CJ, Johnston JM, D'Souza P, Kolstad J, Zoppo C, Vardar Z, Kühn AL, Peker A, Rentiya ZS, Yousef MH, Gahl WA, Shazeeb MS, Tifft CJ, Acosta MT.   +13 more
europepmc   +2 more sources

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis. [PDF]

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 ...
Clemente F, Martínez-Bailén M, Matassini C, Morrone A, Falliano S, Caciotti A, Paoli P, Goti A, Cardona F.   +8 more
europepmc   +2 more sources

Adeno-associated virus expressing a blood-brain barrier-penetrating enzyme improves GM1 gangliosidosis in a preclinical model. [PDF]

J Clin Invest
GM1 gangliosidosis is a lysosomal storage disorder (LSD) caused by genetic defects in lysosomal β-galactosidase (β-gal). The primary substrate of β-gal is GM1 ganglioside (GM1), a sialylated glycosphingolipid abundant in the central nervous system (CNS).
Matsushima SK, Shimada Y, Kinoshita M, Nagashima T, Okamoto S, Iizuka S, Takagi H, Iizuka S, Higuchi T, Hioki H, Watabe AM, Sonoda H, Ohashi T, Kobayashi H.   +13 more
europepmc   +2 more sources

Clinical findings in Brazilian patients with adult GM1 gangliosidosis. [PDF]

JIMD Rep, 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.
Giugliani L, Steiner CE, Kim CA, Lourenço CM, Santos MLSF, de Souza CFM, Brusius-Facchin AC, Baldo G, Riegel M, Giugliani R.   +9 more
europepmc   +2 more sources

Gangliosidosis gml juvenil como causa de regresión en el neurodesarrollo: reporte de caso

Acta Neurológica Colombiana, 2023
La gangliosidosis GM1 es ocasionada por deficiencia en la actividad catalítica de la enzima lisosomal beta-galacto-sidasa, dando origen a la acumulación del esfingolípido conocido como gangliósido GM1.
Blair Ortiz, Claudia González, Eugenia Espinosa, Johana Guevara, Olga Yanet Echeverri, Luis Barrera   +5 more
doaj   +2 more sources

Characterization of glycan substrates accumulating in GM1 Gangliosidosis. [PDF]

Mol Genet Metab Rep, 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
Lawrence R, Van Vleet JL, Mangini L, Harris A, Martin N, Clark W, Chandriani S, LeBowitz JH, Giugliani R, d'Azzo A, Yogalingam G, Crawford BE.   +11 more
europepmc   +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. [PDF]

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.
Capitini C, Feo F, Caciotti A, Tonin R, Lulli M, Coviello D, Guerrini R, Calamai M, Morrone A.   +8 more
europepmc   +2 more sources