Results 111 to 120 of about 5,278 (187)

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism. [PDF]

Sci Rep
Sabir MS, Jovanovic VM, Ryu S, Sen C, Ormanoglu P, Pollard L, Steet R, Gahl WA, Huizing M, Tristan CA, Platt FM, Malicdan MCV.   +11 more
europepmc   +1 more source

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

Clinical, Imaging, Genetic, and Disease Course Characteristics in Patients With GM2 Gangliosidosis: Beyond Age of Onset [PDF]

Neurology
Kern J, Böhringer J, Timmann D, Trollmann R, Stendel C, Kamm C, Röbl M, Santhanakumaran V, Groeschel S, Beck-Wödl S, Göricke S, Krägeloh-Mann I, Synofzik M.   +12 more
europepmc   +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

Linking glycosphingolipid metabolism to disease-related changes in the plasma membrane proteome. [PDF]

Biochem Soc Trans
Monkhouse H, Deane JE.
europepmc   +1 more source

Conformational Dynamics and Membrane Insertion Mechanism of B4GALNT1 in Ganglioside Synthesis [PDF]

Nat Commun
Deane J, Welland J, Barrow H, Stansfeld P.   +3 more
europepmc   +3 more sources

Evaluation of the PP6D5 Polymer as a Novel Non-Viral Vector in the Development of a CRISPR/nCas9-Based Gene Therapy for Tay-Sachs Disease. [PDF]

Pharmaceutics
Guerrero-Vargas JM, Suarez-Garcia DA, Leal AF, Diaz-Ariza IL, Pérez-Pérez LD, Espejo-Mojica AJ, Alméciga-Díaz CJ.   +6 more
europepmc   +1 more source

In Vitro Studies Of Liposome Carriers In Enzyme Replacement Therapy Of Feline Gangliosidoses. [PDF]

, 1978
Reynolds, Gary Dean
core   +1 more source

Surrogate Biomarkers in Gene Therapy for Orphan Diseases: Validation, Application, and Regulatory Aspects. [PDF]

Int J Mol Sci
Ayupova AI, Solovyeva VV, Issa SS, Fayoud HJ, Rizvanov AA.   +4 more
europepmc   +1 more source

Increasing β-hexosaminidase A activity using genetically modified mesenchymal stem cells. [PDF]

Neural Regen Res
Shaimardanova AA, Chulpanova DS, Solovyeva VV, Issa SS, Mullagulova AI, Titova AA, Mukhamedshina YO, Timofeeva AV, Aimaletdinov AM, Nigmetzyanov IR, Rizvanov AA.   +10 more
europepmc   +1 more source