Results 101 to 110 of about 4,845,721 (162)

Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage. [PDF]

PLoS One, 2017
Ogawa Y, Kaizu K, Yanagi Y, Takada S, Sakuraba H, Oishi K.   +5 more
europepmc   +1 more source

FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice. [PDF]

Sci Rep, 2017
Ogawa Y, Sano T, Irisa M, Kodama T, Saito T, Furusawa E, Kaizu K, Yanagi Y, Tsukimura T, Togawa T, Yamanaka S, Itoh K, Sakuraba H, Oishi K.   +13 more
europepmc   +1 more source

Alterations in endo-lysosomal function induce similar hepatic lipid profiles in rodent models of drug-induced phospholipidosis and Sandhoff disease. [PDF]

J Lipid Res, 2017
Lecommandeur E, Baker D, Cox TM, Nicholls AW, Griffin JL.   +4 more
europepmc   +1 more source

New insights in pediatric metabolic medicine: pathogenesis of cholesterol biosynthesis defects and innovative therapies for Pompe disease [PDF]

, 2007
Rossi, Emiliano
core   +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

Long-term correction of Sandhoff disease following intravenous delivery of rAAV9 to mouse neonates. [PDF]

Mol Ther, 2015
Walia JS, Altaleb N, Bello A, Kruck C, LaFave MC, Varshney GK, Burgess SM, Chowdhury B, Hurlbut D, Hemming R, Kobinger GP, Triggs-Raine B.   +11 more
europepmc   +1 more source

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease. [PDF]

Exp Neurol, 2015
Bradbury AM, Gray-Edwards HL, Shirley JL, McCurdy VJ, Colaco AN, Randle AN, Christopherson PW, Bird AC, Johnson AK, Wilson DU, Hudson JA, De Pompa NL, Sorjonen DC, Brunson BL, Jeyakumar M, Platt FM, Baker HJ, Cox NR, Sena-Esteves M, Martin DR.   +19 more
europepmc   +1 more source

Sandhoff Disease without Hepatosplenomegaly Due to Hexosaminidase B Gene Mutation.

J Pediatr Neurosci, 2017
Gowda VK, Amoghimath R, Srinivasan VM, Bhat M.   +3 more
europepmc   +1 more source

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis. [PDF]

Hum Genomics
Bolte A, Velmans C, Netzer C, Thimm E, Tuncel AT, Bürger F, Hiersche M, Betz C, Bolz HJ.   +8 more
europepmc   +1 more source