Early nuclear phenotypes and reactive transformation in human iPSC-derived astrocytes from ALS patients with SOD1 mutations.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the progressive death of motor neurons (MNs). Glial cells play roles in MN degeneration in ALS. More specifically, astrocytes with mutations in the ALS-associated gene Cu/Zn superoxide dismutase 1 (SOD1) promote MN death.

Supporting Direct Breastfeeding for a Tracheostomy-Dependent Extremely Premature Infant: A Case Study.

Introduction: The benefits of human milk for preterm infants are well documented. Complex medical conditions can limit the extremely premature infant's ability to breastfeed and to receive human milk directly, yet these vulnerable infants may benefit most from receiving it.

Main Issue: Extremely preterm infants are at risk for infections, digestive challenges, and chronic lung disease, and occasionally require a tracheostomy to facilitate weaning from mechanical ventilation.

Homozygous ALS-linked mutations in TARDBP/TDP-43 lead to hypoactivity and synaptic abnormalities in human iPSC-derived motor neurons.

Cytoplasmic mislocalization and aggregation of the RNA-binding protein TDP-43 is a pathological hallmark of the motor neuron (MN) disease amyotrophic lateral sclerosis (ALS). Furthermore, while mutations in (encoding TDP-43) have been associated with ALS, the pathogenic consequences of these mutations remain poorly understood. Using CRISPR-Cas9, we engineered two homozygous knock-in induced pluripotent stem cell lines carrying mutations in encoding TDP-43 and TDP-43, two common yet understudied ALS TDP-43 variants.