Results 21 to 30 of about 9,234 (203)

Therapeutic developments for neurodegenerative GM1 gangliosidosis [PDF]

Frontiers in Neuroscience
GM1 gangliosidosis (GM1) is a rare but fatal neurodegenerative disease caused by dysfunction or lack of production of lysosomal enzyme, β-galactosidase, leading to accumulation of substrates. The most promising treatments for GM1, include enzyme replacement therapy (ERT), substrate reduction therapy (SRT), stem cell therapy and gene editing.
Dorian Foster, Lucian Williams, Noah Arnold, Jessica Larsen, Jessica Larsen   +4 more
openaire   +4 more sources

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   +2 more sources

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases [PDF]

The Turkish Journal of Pediatrics, 2019
GM1 gangliosidosis is an autosomal recessive lysosomal storage disease which is characterized by the accumulation of GM1 ganglioside, sphingolipids, glycoprotein bound oligosaccharides and keratan sulphate.
Doğuş Özdemir Kara, Ahmet Şahpaz
doaj   +2 more sources

Chitotriosidase as a biomarker for gangliosidoses

Molecular Genetics and Metabolism Reports, 2021
Elevated serum chitotriosidase (CHITO) is an indication of macrophage activation, and its capacity have been explored as a marker of inflammation in a number of disease states.
Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes   +2 more
doaj   +1 more source

Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients

Molecular Genetics and Metabolism Reports, 2022
GM2 and GM1 gangliosidoses are genetic, neurodegenerative lysosomal sphingolipid storage disorders. The earlier the age of onset, the more severe the clinical presentation and progression, with infantile, juvenile and late-onset presentations broadly ...
Richard W.D. Welford, Herve Farine, Michel Steiner, Marco Garzotti, Kostantin Dobrenis, Claudia Sievers, Daniel S. Strasser, Yasmina Amraoui, Peter M.A. Groenen, Roberto Giugliani, Eugen Mengel   +10 more
doaj   +1 more source

GM1-Gangliosidosis Type III Associated Parkinsonism [PDF]

, 2021
GLB1 encodes beta-galactosidase-1, a lysosomal hydrolase that cleaves the terminal beta-galactose from ganglioside substrates. Biallelic variants in GLB1 cause beta-galactosidase deficiency leading to GM1 gangliosidosis.1 Type III GM1 gangliosidosis ...
Ferla, Matteo P, Salayev, Kamran, Allahyarova, Parvin, Houlden, Henry, Gulieva, Sughra, Guliyeva, Ulviyya, Kaiyrzhanov, Rauan, Mursalova, Aytan   +7 more
core   +1 more source

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

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis

Molecular Therapy: Methods & Clinical Development, 2022
GM1-gangliosidosis is a progressive neurodegenerative glycosphingolipidosis resulting from a GLB1 gene mutation causing a deficiency of the lysosomal enzyme β-galactosidase, which leads to the abnormal accumulation of GM1 ganglioside in the central ...
Toshiki Tsunogai, Toya Ohashi, Yohta Shimada, Takashi Higuchi, Ayaka Kimura, Ayako M. Watabe, Fusao Kato, Hiroyuki Ida, Hiroshi Kobayashi   +8 more
doaj   +1 more source

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

Gangliosidosis GM1: About a Clinical Case [PDF]

, 2015
La gangliosidosis GM1 es una enfermedad de depósito lisosomal en la cual se acumula gangliósido-GM1 y otros compuestos galactoconjugados. La enfermedad es secundaria a la deficiencia de β-galactosidasa, con una afectación multiorgánica, en que predominan 
Espinosa García, Eugenia, Londoño C., Juan Pablo, Echeverri Peña, Olga Yaneth, Ardila, Yudy Andrea, Barrera A., Luis Alejandro   +4 more
core   +1 more source