Results 1 to 10 of about 9,234 (203)

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Reports
GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues.
Laura Fiori, Massimiliano Turzi, Veronica Maria Tagi, Laura Asnaghi, Eleonora Bonaventura, Davide Tonduti, Luigina Spaccini, Laura Assunta Saielli, Chiara Montanari, Francesca Cairello, Savina Mannarino, Matilde Ferrario, Alessandra Del Longo, Marcello Napolitano, Andrea Righini, Michela Semeraro, Anna Venerando, Martina Miceli, Elvira Verduci, Gianvincenzo Zuccotti   +19 more
doaj   +3 more sources

GM1 Gangliosidosis: Mechanisms and Management

The Application of Clinical Genetics, 2021
Allisandra K Rha,1 Anne S Maguire,1,2 Douglas R Martin1,2 1Scott-Ritchey Research Center, Auburn University, Auburn, AL, 36849, USA; 2Department of Anatomy, Physiology, and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, 36849,
Anne Maguire, Douglas Martin
exaly   +7 more sources

GM1 Gangliosidosis—A Mini-Review [PDF]

Frontiers in Genetics, 2021
GM1 gangliosidosis is a progressive, neurosomatic, lysosomal storage disorder caused by mutations in the GLB1 gene encoding the enzyme β-galactosidase. Absent or reduced β-galactosidase activity leads to the accumulation of β-linked galactose-containing ...
Elena-Raluca Nicoli, Ida Annunziata, Alessandra d’Azzo, Alessandra d’Azzo, Frances M. Platt, Cynthia J. Tifft, Cynthia J. Tifft, Karolina M. Stepien, Karolina M. Stepien   +8 more
doaj   +3 more sources

From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1. [PDF]

J Inherit Metab Dis
ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Casazza K, Giugliani R, Regier DS, Jarnes J.   +3 more
europepmc   +2 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources

Gut microbiota shifts and short-chain fatty acids alterations in pediatric epilepsy patients on a Mediterranean ketogenic diet. [PDF]

Epileptic Disord
Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Zouganeli S, Mitsou EK, Yannakoulia M, Intze E, Mountzouris KC, Fessatou S, Attilakos A, Kyriacou A, Dinopoulos A.   +8 more
europepmc   +2 more sources

Sialidase NEU3 action on GM1 ganglioside is neuroprotective in GM1 gangliosidosis

Journal of Lipid Research, 2023
GM1 gangliosidosis is a neurodegenerative disorder caused by mutations in the GLB1 gene, which encodes lysosomal β-galactosidase. The enzyme deficiency blocks GM1 ganglioside catabolism, leading to accumulation of GM1 ganglioside and asialo-GM1 ...
Maria L. Allende, Y. Terry Lee, Colleen Byrnes, Cuiling Li, Galina Tuymetova, Jenna Y. Bakir, Elena-Raluca Nicoli, Virginia K. James, Jennifer S. Brodbelt, Cynthia J. Tifft, Richard L. Proia   +10 more
doaj   +3 more sources

Clinical and genetic analysis of a Chinese family with GM1 gangliosidosis caused by a novel mutation in GLB1 gene [PDF]

Frontiers in Pediatrics
ObjectiveTo describe the clinical presentation and novel mutation in the ganglioside-beta-galactosidase gene (GLB1) gene in a Chinese family with GM1 gangliosidosis.MethodsWe collected clinical data from a Chinese family with GM1 gangliosidosis, and ...
Biao Zhang, Xiao-li Huang, Xin-xin Lu, Heng-bin Huang, Yan-an Wu   +4 more
doaj   +2 more sources

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis [PDF]

Clinical and Translational Science
GM1 and GM2 gangliosidosis are inherited, progressive, neurodegenerative lysosomal disorders of variable onset and disease progression. GM1 gangliosidosis is a result of biallelic pathogenic variants in the GLB1 gene, which confer absent or reduced β ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
doaj   +2 more sources

Therapeutic Effects of Nizubaglustat in a Mouse Model of GM2 Gangliosidosis. [PDF]

J Inherit Metab Dis
ABSTRACT Nizubaglustat is a novel selective inhibitor of glucosylceramide synthase (GCS) and the non‐lysosomal glucocerebrosidase (NLGase, GbA2) with brain penetrant properties. It is currently in clinical development as an oral treatment for rare lysosomal storage diseases with neurological involvement. One such disease group called GM2 gangliosidosis,
Landskroner K, Singh K, Mitchell M, Walia JS.   +3 more
europepmc   +2 more sources