Results 11 to 20 of about 2,424 (142)

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis

Clinical and Translational Science, Volume 18, Issue 3, March 2025.
ABSTRACT 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‐galactosidase enzyme activity and lead to the accumulation of glycoconjugates such as ...
Sydney Stern, Karryn Crisamore, Ruo‐Jing Li, Michael Pacanowski, Robert Schuck   +4 more
wiley   +2 more sources

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

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 ...
Weesner JA, Annunziata I, Yang T, Acosta W, Gomero E, Hu H, van de Vlekkert D, Ayala J, Qiu X, Fremuth LE, Radin DN, Cramer CL, d'Azzo A.   +12 more
europepmc   +2 more sources

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients [PDF]

Balkan Med J, 2022
Background: GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by biallelic mutations in the GLB1 gene. Neurodegeneration, hypotonia, visceromegaly, macular cherry-red spots, skeletal dysplasia, and coarse and dysmorphic face ...
Akar HT, Yıldız Y, Güvenkaya G, Çıkı K, Kahraman AB, Erdal İ, Coşkun T, Dursun A, Sivri HS, Tokatlı A.   +9 more
europepmc   +2 more sources

A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis. [PDF]

EBioMedicine, 2023
Summary: Background: GM1 gangliosidosis is a rare, fatal, neurodegenerative disease caused by mutations in the GLB1 gene and deficiency in β-galactosidase.
Kell P, Sidhu R, Qian M, Mishra S, Nicoli ER, D'Souza P, Tifft CJ, Gross AL, Gray-Edwards HL, Martin DR, Sena-Esteves M, Dietzen DJ, Singh M, Luo J, Schaffer JE, Ory DS, Jiang X.   +16 more
europepmc   +2 more sources

Hematopoietic stem cell gene therapy ameliorates CNS involvement in murine model of GM1-gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 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 ...
Tsunogai T, Ohashi T, Shimada Y, Higuchi T, Kimura A, Watabe AM, Kato F, Ida H, Kobayashi H.   +8 more
europepmc   +2 more sources

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

Front Pediatr
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 ...
Zhang B, Huang XL, Lu XX, Huang HB, Wu YA.   +4 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

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

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis. [PDF]

Mol Genet Metab Rep
GLB1-related disorders are autosomal recessive lysosomal diseases caused by enzymatic deficiency of β-galactosidase. Enzymatic deficiency of β-galactosidase may lead to one of two phenotypes, GM1 gangliosidosis or mucopolysaccharidosis IVB (MPS IVB). GM1
Menkovic I, Williams M, Makhijani N, Wei R, Young SP, El-Gharbawy A, Stiles AR.   +6 more
europepmc   +2 more sources

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan. [PDF]

Animals (Basel), 2022
GM1 gangliosidosis is a progressive, recessive, autosomal, neurodegenerative, lysosomal storage disorder that affects the brain and multiple systemic organs due to an acid β-galactosidase deficiency encoded by the GLB1 gene.
Pervin S, Islam MS, Yorisada Y, Sakai A, Masamune S, Yabuki A, Rakib TM, Maki S, Tacharina MR, Yamato O.   +9 more
europepmc   +2 more sources