Results 111 to 120 of about 4,924 (178)

Metabolism of Glycosphingolipids and targeting GM2 synthesis pathway to develop substrate reduction approach in Tay-Sachs and Sandhoff disorders. [PDF]

GM2 gangliosidosis is a rare genetic lysosomal storage disorder (LSD) in children, with no effective therapies available presently. Tay-Sachs (TSD) and Sandhoff disorders (SD) are caused by a disruption of the catabolic pathway of gangliosides in ...
Abidi, Iram
core  

Late-onset GM2 gangliosidosis: magnetic resonance imaging, diffusion tensor imaging, and correlational fiber tractography differentiate Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Chipman SI, Johnston JM, Acosta MT, Toro C, Tifft CJ.   +5 more
europepmc   +1 more source

A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis. [PDF]

Anal Bioanal Chem
Kim J, Byeon SK, Oglesbee D, Schultz MJ, Matern D, Pandey A.   +5 more
europepmc   +1 more source

4-Phenylbutyric acid mitigates ER stress-induced neurodegeneration in the spinal cords of a GM2 gangliosidosis mouse model. [PDF]

Hum Mol Genet
Weaver FE, White E, Peek AM, Nurse CA, Austin RC, Igdoura SA.   +5 more
europepmc   +1 more source

GM2 Gangliosidosis in Shiba Inu Dogs with an In-Frame Deletion in HEXB. [PDF]

J Vet Intern Med, 2017
Kolicheski A, Johnson GS, Villani NA, O'Brien DP, Mhlanga-Mutangadura T, Wenger DA, Mikoloski K, Eagleson JS, Taylor JF, Schnabel RD, Katz ML.   +10 more
europepmc   +1 more source

Infantile Monosialoganglioside2 (GM2) Gangliosidosis With Concurrent Bronchopneumonia: An Extraordinary Case of Tay-Sachs Disease. [PDF]

Cureus
Grezenko H, Al-Deir SS, Eshete FD, Faran N, Mimms CS, Ibrahim M.   +5 more
europepmc   +1 more source

Canine GM2-Gangliosidosis Sandhoff Disease Associated with a 3-Base Pair Deletion in the HEXB Gene. [PDF]

J Vet Intern Med, 2018
Wang P, Henthorn PS, Galban E, Lin G, Takedai T, Casal M.   +5 more
europepmc   +1 more source

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review. [PDF]

BMC Pediatr, 2016
Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K.   +5 more
europepmc   +1 more source

GM2-Gangliosidosis, AB Variant: Clinical, Ophthalmological, MRI, and Molecular Findings. [PDF]

JIMD Rep, 2016
Renaud D, Brodsky M.
europepmc   +1 more source

Similarities and differences in the late-onset GM2 gangliosidoses: Tay-Sachs and Sandhoff diseases. [PDF]

J Neurol
Lewis CJ, Shirvan L, Johnston JM, Groden C, Yang J, Ashton A, Chong J, Moran M, Akmal H, Chipman SI, Zampieri C, Wickstrom J, Matsubara J, Lehky T, Alter KE, Toro C, Tifft CJ.   +16 more
europepmc   +1 more source