Results 21 to 30 of about 15,504 (206)

Imaging manifestations in infantile GM1 gangliosidosis: a rare lysosomal storage disorder: a paediatric case report. [PDF]

BJR Case Rep
Mono-sialo-tetra-hexosylganglioside, also known as infantile GM1 gangliosidosis, is an autosomal recessive lysosomal storage disorder caused by a mutation in the GLB1 gene that stops the β-galactosidase enzyme from working.
Bhat S, Sharma S, Bhat S, Kaul A.
europepmc   +2 more sources

Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of G_M1-gangliosidosis. [PDF]

Sci Rep
GM1-gangliosidosis is a lysosomal storage disease characterized by the accumulation of GM1 ganglioside in neurons, including retinal ganglion cells (RGCs).
Jubran L, Wannemacher R, Ulianytska A, Gerhauser I, Baumgärtner W, Leitzen E.   +5 more
europepmc   +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

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

AAV-Mediated Gene Delivery in Adult GM1-Gangliosidosis Mice Corrects Lysosomal Storage in CNS and Improves Survival [PDF]

, 2010
Background: GM1-gangliosidosis is a glycosphingolipid (GSL) lysosomal storage disease caused by a genetic deficiency of acid β-galactosidase (βgal), which results in the accumulation of GM1-ganglioside and its asialo-form (GA1) primarily in the CNS.
Baek, Rena C., Broekman, Marike L. D., d'Azzo, Alessandra, Leroy, Stanley G., Sandberg, Michael Arthur, Sena-Esteves, Miguel, Seyfried, Thomas N., Tierney, Laryssa A.   +7 more
core   +11 more sources

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

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   +1 more source

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

Clin Case Rep
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.
Nishi E, Yanagi K, Shima M, Yamazaki N, Kawato K, Narita A, Sakai N, Okamoto N, Yanagihara K, Kaname T.   +9 more
europepmc   +2 more sources

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