Topic: transgenic mouse model

Amyotrophic lateral sclerosis (ALS) is a lethal neurodegenerative disease that lacks effective therapeutic strategies to date. GemPharmatech (GPT) generated the GPT hSOD1 G93A transgenic mouse strain to recapitulate ALS-like phenotypes in an animal model, in support of medical research and drug development. The hSOD1 G93A mouse model carries the G93A mutation in human SOD1 gene, which is widely expressed in mice. We observed an apparent body weight decrease in 25-week-old mice. We further performed a range of behavioral tests to identify the disease onset timing in GPT hSOD1 G93A mouse model,

Alzheimer's disease (AD) is the most common form of dementia after the age of 65. Prior to cognitive impairment, this disease is characterized by a long asymptomatic phase during which dysfunctions of neurotransmission have been demonstrated. It is known that these early dysfunctions are the result of an abnormal accumulation of β-amyloid peptide which accumulates in different regions of the brain, notably the hippocampus. By performing electrophysiological recordings on the APP/PS1 transgenic mouse model that show an overproduction of β-amyloid peptide, I identified an alteration of the inhib

Liver-secreted albumin is the most abundant protein in blood plasma and cerebrospinal fluid. We have previously developed liver-targeting adeno-associated viral vectors (AAV8-P3-*) that express fluorescent protein-tagged albumin to visualize blood plasma in adult mice (DOI: 10.1016/j.crmeth.2022.100302). We have also established a virally induced CRISPR/Cas9-based knock-in of green fluorescent albumin in neonatal mice (DOI: 10.1101/2023.07.10.548084). Here, we have generated a new transgenic mouse model by CRISPR/Cas9 in which the bright red fluorescent protein mScarlet is knocked into the alb

Genomic medicine provides potential for novel diagnostic targets and therapeutic solutions. As mutations in human genes are identified and associated with neurodevelopmental disorders, the need to create personalized treatment protocol has increased. We have previously reported the first mutation in type 2 vesicular monoamine transporter (VMAT2), causing an infantile Parkinsonism phenotype Parkinsonism-dystonia-2 (PKDYS2) (OMIM 618049)( Rilstone et al., NEJM, 2013). Over the past decade, several additional mutations have been identified in VMAT2, giving rise to a broad phenotype spectrum and v