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UnknownSR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing.
Not available
S-EPMC2631023 | biostudies-literature
UnknownSanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.
Not available
S-EPMC7659972 | biostudies-literature
UnknownAntisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery.
Not available
S-EPMC3922136 | biostudies-literature
UnknownGeneration of a human neuronal stable cell model for niemann-pick C disease by RNA interference.
Not available
S-EPMC3509875 | biostudies-literature
UnknownIdentification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients.
Not available
S-EPMC2760245 | biostudies-literature
UnknownEXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.
Not available
S-EPMC4561882 | biostudies-literature
UnknownThe Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Not available
S-EPMC5059214 | biostudies-literature
UnknownNew murine Niemann-Pick type C models bearing a pseudoexon-generating mutation recapitulate the main neurobehavioural and molecular features of the disease.
Not available
S-EPMC5294585 | biostudies-literature
UnknownMapping the genetic and clinical characteristics of Gaucher disease in the Iberian Peninsula.
Not available
S-EPMC3349595 | biostudies-literature
UnknownTherapeutic strategies based on modified U1 snRNAs and chaperones for Sanfilippo C splicing mutations.
Not available
S-EPMC4279800 | biostudies-literature
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