Results 11 to 20 of about 4,196 (206)

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

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

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

The Journal of Clinical Investigation
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).
Saki Kondo Matsushima, Yohta Shimada, Masafumi Kinoshita, Takashi Nagashima, Shinichiro Okamoto, Sayoko Iizuka, Haruna Takagi, Shunsuke Iizuka, Takashi Higuchi, Hiroyuki Hioki, Ayako M. Watabe, Hiroyuki Sonoda, Toya Ohashi, Hiroshi Kobayashi   +13 more
doaj   +2 more sources

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts [PDF]

Orphanet Journal of Rare Diseases
Background Clinical trials for rare diseases pose unique challenges warranting alternative approaches in demonstrating treatment efficacy. Such trials face challenges including small patient populations, variable onset of symptoms and rate of disease ...
Connor J. Lewis, Jean M. Johnston, Silvia Zaragoza Domingo, Gilbert Vezina, Precilla D’Souza, William A. Gahl, David A. Adams, Cynthia J. Tifft, Maria T. Acosta   +8 more
doaj   +2 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

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography. [PDF]

Iran J Child Neurol
ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Karimzadeh P, Ebrahimi M, Etemad K, Ahmad Abadi F, Hosseini Nezhad Z.   +4 more
europepmc   +3 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

Preclinical Enzyme Replacement Therapy with a Recombinant β-Galactosidase-Lectin Fusion for CNS Delivery and Treatment of GM1-Gangliosidosis

Cells, 2022
GM1-gangliosidosis is a catastrophic, neurodegenerative lysosomal storage disease caused by a deficiency of lysosomal β-galactosidase (β-Gal). The primary substrate of the enzyme is GM1-ganglioside (GM1), a sialylated glycosphingolipid abundant in ...
Jason Andrew Weesner, Ida Annunziata, Tianhong Yang, Walter Acosta, Elida Gomero, Huimin Hu, Diantha van de Vlekkert, Jorge Ayala, Xiaohui Qiu, Leigh Ellen Fremuth, David N. Radin, Carole L. Cramer, Alessandra d’Azzo   +12 more
doaj   +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