Subject collection: Stem Cells
- Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy
Summary: This study examines the consequential effects of exposure to diseased exosomes in a cell model of Duchenne muscular dystrophy (DMD). The findings support a detrimental role for long-term DMD cardiac exosome exposure.
- CHIP mutations affect the heat shock response differently in human fibroblasts and iPSC-derived neurons
Summary: Cell viability, expression and immunocytochemical analyses reveal that mutations in STUB1 that cause SCAR16 impair the heat-shock response in patient-derived fibroblasts, but not in iPSC-derived cortical neurons.
- Silencing of CCR4-NOT complex subunits affects heart structure and function
Summary: Genome-wide association studies combined with in vitro human cardiac cell assays and a model organism suitable for heart studies in vivo connect CNOT1, CNOT7 and overall the CCR4-NOT complex to human heart disease and morbidity.
- Characterization of the human GnRH neuron developmental transcriptome using a GNRH1-TdTomato reporter line in human pluripotent stem cells
Summary: Here, we generated a GNRH1-reporter cell line in hPSCs and investigated transcriptomes of GNRH1-expressing neurons and their progenitors, potentially leading to validation of new genes related to GnRH neuron function.
- Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility
Summary: This Review discusses approaches to deal with and reduce cellular heterogeneity in induced pluripotent stem cell-based studies, enabling experiments to be reproducible and meaningful.
- Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
Summary: The authors describe a neuronal model to investigate how mutations in the copper transporter ATP7A cause axonal degeneration in the peripheral nervous system.
- Inducible SMARCAL1 knockdown in iPSC reveals a link between replication stress and altered expression of master differentiation genes
Summary: This study reports the generation of an iPSC model to investigate phenotypic changes associated with loss of SMARCAL1, as found in severe forms of the genetic disease Schimke immuno-osseous dysplasia.
- mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells
Summary: Using neuronopathic Gaucher's disease iPSCs, this study has identified the mTOR complex as a potential therapeutic target in GBA1-associated neurodegeneration.
- C9ORF72-related cellular pathology in skeletal myocytes derived from ALS-patient induced pluripotent stem cells
Summary: Evidence of protein aggregation and mitochondrial dysfunction were found in skeletal myocytes differentiated from ALS-patient induced pluripotent stem cells with the C9ORF72 mutation.
- Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh)
Summary: The authors show hiPSC-cardiomyocyte-based modeling of a mutation in a G-protein β-subunit that affects the electrophysiological response of cardiomyocytes to the cholinergic regulation of the heart rate, uncovering a potential therapy for severe bradycardia in humans carrying these mutations.