Results 101 to 110 of about 7,809 (216)

Transient high-level expression of ß-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA

Brazilian Journal of Medical and Biological Research, 2008
GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase ß-galactosidase (ß-Gal). It is one of the most frequent lysosomal storage disorders in Brazil, with an estimated frequency of 1:17,000.
R.C. Balestrin, G. Baldo, M.B. Vieira, R. Sano, J.C. Coelho, R. Giugliani, U. Matte   +6 more
doaj  

Novel Galactosidase-Beta-1 Variant in Infantile GM1 Gangliosidosis: A Case Report. [PDF]

Cureus
Srivastava P, Kumar A, Jain SD, Kumar R, Swaroop S, Sarangi T.   +5 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

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India. [PDF]

Tremor Other Hyperkinet Mov (N Y)
Roy S, Arora C, Holla VV, Prasad S, Phulpagar P, Kamble N, Muthusamy B, Saini J, Yadav R, Pal PK.   +9 more
europepmc   +1 more source

Correction: Vyas et al. Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis. <i>Int. J. Mol. Sci.</i> 2023, <i>24</i>, 14611. [PDF]

Int J Mol Sci
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS.   +9 more
europepmc   +1 more source

Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human G_M1-Gangliosidosis. [PDF]

J Clin Med
Jubran L, Wannemacher R, Baumgärtner W, Felmy F, Steiner MA, Leitzen E, Kladisios N.   +6 more
europepmc   +1 more source

Editorial: Brain injury and neurodegenerative diseases: imaging and mechanisms

Frontiers in Molecular Neuroscience
Zhuonan Wang, Iris Yuwen Zhou, Lei Gao, Li Chen   +3 more
doaj   +1 more source

Burden of caregiving of individuals with GM1 and GM2 gangliosidoses in the United States: a qualitative study. [PDF]

Orphanet J Rare Dis
Rodriguez MB, Pulikottil-Jacob R, Heuer K, Perez NG, Waggoner C, Jussila D, Gwaltney C, Krupnick R, Ng-Mak D.   +8 more
europepmc   +1 more source

Regulation of lysosomal ion homeostasis by channels and transporters [PDF]

, 2016

core   +1 more source

3D bioprinted neural scaffolds: a transformative avenue for GM2 gangliosidosis therapy. [PDF]

Ann Med Surg (Lond)
Sheikh M, Khalil MH, Irshad NUN, Talha M, Imran SB.   +4 more
europepmc   +1 more source