Leucine rich repeat kinase 2 (LRRK2) is the causative gene for autosomal-dominant familial forms of Parkinson's disease (PD). Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a female patient with LRRK2 c.4111A > G (p.I1371V) mutation by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype. The iPSCs also showed pluripotency confirmed by immunofluorescent staining and differentiated into the three germ layers in vivo. This cellular model will provide a platform for studying the role of LRRK2 in the disease process.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1016/j.scr.2019.101447 | DOI Listing |
Mol Neurodegener
January 2025
Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.
Gastrointestinal (GI) involvement in Lewy body diseases (LBDs) has been observed since the initial descriptions of patients by James Parkinson. Recent experimental and human observational studies raise the possibility that pathogenic alpha-synuclein (⍺-syn) might develop in the GI tract and subsequently spread to susceptible brain regions. The cellular and mechanistic origins of ⍺-syn propagation in disease are under intense investigation.
View Article and Find Full Text PDFDrug Metab Dispos
January 2025
Department of Pharmacotherapy and Translational Research, College of Pharmacy, Center for Pharmacogenomics and Precision Medicine, University of Florida, Gainesville, Florida. Electronic address:
Many factors cause interperson variability in the activity and expression of the cytochrome P450 (CYP) drug-metabolizing enzymes in the liver, leading to variable drug exposure and treatment outcomes. Several liver-enriched transcription factors are associated with CYP expression, with estrogen receptor α (ESR1) and constitutive androstane receptor (CAR or NR1I3) being the 2 top factors. ESR1 and NR1I3 undergo extensive alternative splicing that results in numerous splice isoforms, but how these splice isoforms associate with CYP expression is unknown.
View Article and Find Full Text PDFAm J Physiol Lung Cell Mol Physiol
January 2025
Department of Bioengineering, University of Colorado, Denver | Anschutz Medical Campus, Aurora, CO, USA.
Lung progenitor (LP) cells identified by the expression of transcription factor NK2 homeobox 1 (NKX2.1) are essential for development of all lung epithelial cell types and hold tremendous potential for pulmonary research and translational regenerative medicine applications. Here we present engineered hydrogels as a promising alternative to the naturally derived materials that are often used to differentiate human induced pluripotent stem cells (iPSCs) into LP cells.
View Article and Find Full Text PDFNeurobiol Dis
January 2025
KU Leuven - University of Leuven, Department of Neurosciences and Leuven Brain Institute (LBI), Leuven, Belgium; Laboratory of Neurobiology, VIB Center for Brain & Disease Research, Leuven, Belgium. Electronic address:
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder characterized by the selective and progressive loss of motor neurons, leading to gradual paralysis and death within 2 to 5 years after diagnosis. The exact underlying pathogenic mechanism(s) remain elusive. This is particularly the case for sporadic ALS (sALS), representing 90 % of cases, as modelling a sporadic disease is extremely difficult.
View Article and Find Full Text PDFStem Cell Res
January 2025
The University of Trans-Disciplinary Health Sciences and Technology, Bengaluru 560064, India; Eyestem Research, Centre for Cellular and Molecular Platforms (C-CAMP), Bengaluru 560065, India. Electronic address:
Alpha-1 antitrypsin deficiency (AATD) is an autosomal disorder that causes liver and lung disease. The risk of developing lung emphysema, chronic obstructive pulmonary disorder and liver cirrhosis is observed in >75 % people affected with a homozygous mutation. Here, we describe the generation of an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMC) isolated from a AATD patient using non viral and non-integrating episomal vectors.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!