Results 1 to 10 of about 3,290 (167)

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

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 ...
Amraoui, Yasmina, Dobrenis, Kostantin, Farine, Herve, Garzotti, Marco, Giugliani, Roberto, Groenen, Peter M. A., Mengel, Eugen, Sievers, Claudia, Steiner, Michel, Strasser, Daniel S., Welford, Richard W. D.   +10 more
core   +3 more sources

Multimodal optical imaging and genetic features of AB variant GM2 gangliosidosis: a case report. [PDF]

Front Pediatr, 2023
BackgroundAB variant GM2 gangliosidosis is an extremely rare autosomal recessive lysosomal storage disease. Macular cherry-red spots are the most commonly described ocular sign in this disease.
Chen Q, Lu F.
europepmc   +2 more sources

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction. [PDF]

PLoS Biol
Glycosphingolipids (GSL) are important bioactive membrane components. GSLs containing sialic acids, known as gangliosides, are highly abundant in the brain and diseases of ganglioside metabolism cause severe early-onset neurodegeneration. The ganglioside
Nicholson AS, Priestman DA, Antrobus R, Williamson JC, Bush R, McKie SJ, Barrow HG, Smith E, Dobrenis K, Bright NA, Platt FM, Deane JE.   +11 more
europepmc   +4 more sources

L-arginine ameliorates defective autophagy in GM2 gangliosidoses by mTOR modulation [PDF]

Cells, 2021
Aims: Tay–Sachs and Sandhoff diseases (GM2 gangliosidosis) are autosomal recessive disorders of lysosomal function that cause progressive neurodegeneration in infants and young children. Impaired hydrolysis catalysed by β-hexosaminidase A (HexA) leads to
Alcocer-Gómez, Elísabet, Castejón Vega, Beatriz, Cordero, Mario D., Fernández Domínguez, Beatriz, Lane, Jon D., Pérez Pulido, Antonio J., Quiles Morales, José Luis, Rubio Valle, Alejandro   +7 more
core   +11 more sources

Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats. [PDF]

JFMS Open Rep, 2022
Case series summary Two Japanese domestic cats with GM2 gangliosidosis variant 0, diagnosed at different times, are included in this case series. Both cats were diagnosed by genetic analysis and had the HEXB :c.667C>T pathogenic genetic variant, which ...
Yu Y, Hasegawa D, Hamamoto Y, Mizoguchi S, Fujimori T, Kubo Y, Islam MS, Yamato O.   +7 more
europepmc   +2 more sources

Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis. [PDF]

Front Mol Neurosci, 2023
AB-Variant GM2 gangliosidosis (ABGM2) is a rare and lethal genetic disorder caused by mutations in the GM2A gene that lead to fatal accumulation of GM2 gangliosides (GM2) in neurons of the central nervous system (CNS).
Deschenes NM, Cheng C, Khanal P, Quinville BM, Ryckman AE, Mitchell M, Pshezhetsky AV, Walia JS.   +7 more
europepmc   +2 more sources

Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis. [PDF]

Int J Mol Sci, 2023
GM2 gangliosidosis is a group of genetic disorders that result in the accumulation of GM2 ganglioside (GM2) in brain cells, leading to progressive central nervous system (CNS) atrophy and premature death in patients. AB-variant GM2 gangliosidosis (ABGM2) arises from loss-of-function mutations in the GM2 activator protein (GM2AP), which is essential for
Deschenes NM, Cheng C, Ryckman AE, Quinville BM, Khanal P, Mitchell M, Chen Z, Sangrar W, Gray SJ, Walia JS.   +9 more
europepmc   +3 more sources

Therapeutic advantages of combined gene/cell therapy strategies in a murine model of GM2 gangliosidosis. [PDF]

Mol Ther Methods Clin Dev, 2022
Genetic deficiency of β-N-acetylhexosaminidase (Hex) functionality leads to accumulation of GM2 ganglioside in Tay-Sachs disease and Sandhoff disease (SD), which presently lack approved therapies.
Sala D, Ornaghi F, Morena F, Argentati C, Valsecchi M, Alberizzi V, Di Guardo R, Bolino A, Aureli M, Martino S, Gritti A.   +10 more
europepmc   +2 more sources

Genetics and Therapies for GM2 Gangliosidosis. [PDF]

Curr Gene Ther, 2018
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of ...
Cachon-Gonzalez MB, Zaccariotto E, Cox TM.   +2 more
europepmc   +4 more sources

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

Clin Transl Sci
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 ...
Stern S, Crisamore K, Li RJ, Pacanowski M, Schuck R.   +4 more
europepmc   +2 more sources