Results 131 to 140 of about 6,625 (209)

A review of gene therapy in canine and feline models of lysosomal storage disorders [PDF]

, 2015
Bradbury, Allison M, Casal, Margret L, Gurda, Brittney L, Haskins, Mark E, Ponder, Katherine P, Vite, Charles H   +5 more
core   +2 more sources

Plasma membrane remodeling in GM2 gangliosidoses drives synaptic dysfunction.

PLoS Biology
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
Alex S Nicholson, David A Priestman, Robin Antrobus, James C Williamson, Reuben Bush, Shannon J McKie, Henry G Barrow, Emily Smith, Kostantin Dobrenis, Nicholas A Bright, Frances M Platt, Janet E Deane   +11 more
doaj   +1 more source

Abnormal epiphyseal development in a feline model of Sandhoff disease. [PDF]

J Orthop Res, 2020
McNulty MA, Prevatt PB, Nussbaum ER, Randle AN, Johnson AK, Hudson JA, Gray-Edwards HL, Sena-Esteves M, Martin DR, Carlson CS.   +9 more
europepmc   +1 more source

Linear ion-trap MSn with high-resolution MS reveals structural diversity of 1-O-acylceramide family in mouse epidermis [PDF]

, 2017
Hsu, Fong-Fu, Lin, Meei-Hua, Miner, Jeffrey H, Turk, John   +3 more
core   +2 more sources

A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). [PDF]

Orphanet J Rare Dis, 2020
Davies EH, Johnston J, Toro C, Tifft CJ.
europepmc   +1 more source

Bioprinting neural tissue to decode Sandhoff disease: promise and barriers. [PDF]

Ann Med Surg (Lond)
Ullah SH, Waqas M, Fatima M, Talha M, Rehman UU.   +4 more
europepmc   +1 more source

Neural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease [PDF]

, 2018
et al,, Jiang, Xuntian, Ory, Daniel S
core   +1 more source

Subacute Juvenile Sandhoff Disease: A Progressive Neurodegenerative Disorder. [PDF]

Int J Clin Pediatr Dent
Kadam BD, Jampanapalli SR, Ranganathan R, Rayella H.   +3 more
europepmc   +1 more source

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations [PDF]

, 2010
Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder   +5 more
core   +1 more source

AAV-mediated gene delivery attenuates neuroinflammation in feline Sandhoff disease. [PDF]

Neuroscience, 2017
Bradbury AM, Peterson TA, Gross AL, Wells SZ, McCurdy VJ, Wolfe KG, Dennis JC, Brunson BL, Gray-Edwards H, Randle AN, Johnson AK, Morrison EE, Cox NR, Baker HJ, Sena-Esteves M, Martin DR.   +15 more
europepmc   +1 more source