Publications by authors named "Leon Deng"
Article Synopsis
- Scientists are trying to make tiny vesicles called extracellular vesicles (EVs) help deliver medicine to the brain more effectively.
- They used a method called CRISPR to change a type of human cell (hiPSCs) to make these EVs better at targeting the brain by adding a special protein from a virus.
- The researchers found that these modified EVs were able to enter brain cells more easily than regular EVs, which could help with delivering treatments for brain diseases.
Article Synopsis
- Spinocerebellar ataxia type 12 (SCA12) is linked to a genetic mutation (CAG/CTG repeat expansion) at the PPP2R2B gene, leading to neurodegeneration.
- The study aimed to explore how this mutation affects the expression of the Bβ1 protein and a protein that has a long polyserine tract.
- Results showed that the CAG repeat expansion increases the production of both the PPP2R2B 7B7D transcript and Bβ1 protein, and that the long polyserine tract can induce cell death, which may be significant in understanding SCA12's progression.
Spinocerebellar ataxia type 12 (SCA12) is caused by a CAG expansion mutation in PPP2R2B, a gene encoding brain-specific regulatory units of protein phosphatase 2A (PP2A); while normal alleles carry 4 to 31 triplets, the disease alleles carry 43 to 78 triplets. Here, by CRISPR/Cas9n genome editing, we have generated a human heterozygous SCA12 iPSC line with 73 triplets for the mutant allele. The heterozygous SCA12 iPSCs have normal karyotype, express pluripotency markers and are able to differentiate into the three germ layers.
View Article and Find Full Text PDFBackground: Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.
Objective: In this study, we tested the hypothesis that the PPP2R2B antisense (PPP2R2B-AS1) transcript containing a CUG repeat is expressed and contributes to SCA12 pathogenesis.
Methods: Expression of PPP2R2B-AS1 transcript was detected in SCA12 human induced pluripotent stem cells (iPSCs), iPSC-derived NGN2 neurons, and SCA12 knock-in mouse brains using strand-specific reverse transcription polymerase chain reaction.