Alysson Renato Muotri

This study shows that SETD5 dysfunction in astrocytes increases IL-6, which harms neurons via JAK/STAT signaling, suggesting therapeutic targeting of this pathway for ASD and ID.

This paper presents a neurorecording toolkit to longitudinally assess transplanted human cortical organoids in vivo, showing increased neuronal activity and synchronicity over time.

This paper discusses stages of neocortex formation in organoids, presents a guide for removing maldeveloped organoids, and introduces an imaging platform for automated quality control.

The paper identifies active human neural enhancers and CRISPRa gRNAs that upregulate NDD risk genes, providing a resource for cis-regulatory therapy development.

The paper shows that spaceflight triggers neural senescence via reactivation of dormant viral-like retroelements, and that reverse transcriptase inhibitors can reverse these effects.

The paper describes neuronal morphology in human neural organoids and assembloids, finding that interregional assembloids show greater morphological complexity than individual organoids.

This study shows therapeutic acetaminophen exposure does not significantly alter human cortical organoid development at the molecular or functional level.

This study shows pathogenic bacteria disrupt cerebral organoid structure and energy metabolism by altering glycolysis and increasing pentose phosphate pathway activity.

This study integrates scRNA-seq data from ASD animal models to identify convergent transcriptomic dysregulation in excitatory-inhibitory imbalance and glial dysfunction.

This paper demonstrates that graphene-polymer nanofibers can be optically stimulated to enhance electrical activity in stem cell-derived cardiomyocytes and brain organoids.

The paper introduces AmpliDrop, a single-cell genomics barcoding technology that simplifies reagent production and workflow, enabling scalable and flexible experiments.

This study shows that VAPB P56S mutation causes mitochondrial dysfunction and enhances the integrated stress response, leading to motor neuron disease in ALS.

This study perturbs LINE-1 elements in mouse embryonic stem cells to show their cis-regulatory impact on gene expression, with 1,024 genes misregulated upon activation and 81 upon repression.

This study examines the effects of MECP2 mutations on neuronal and network phenotypes in human stem cell-derived excitatory neurons, showing a spectrum of morphological, electrophysiological, and circuitry changes based on mutation severity.

The paper demonstrates functional connectivity between human cortical organoids and mouse visual cortex using transparent graphene microelectrodes and two-photon imaging.

This study shows that autism spectrum disorder risk is influenced by rare variants, polygenic risk, and sex, with sex-specific effects on genetic liability and behavioral traits.

This study uses cortical organoids derived from patients with 16p11.2 CNV to show altered neurodevelopmental processes, including changes in organoid size, neuronal maturation, and migration.

This study shows that using a secretable TATk-CDKL5 protein in AAV gene therapy improves CDKL5 replacement and functional outcomes in Cdkl5 KO mice compared to native CDKL5 expression.

The paper introduces a synthetic voltage sensor and optogenetic actuator for all-optical electrophysiology in hiPSC-derived neurons, demonstrating its effectiveness in measuring activity across distinct genetic backgrounds.

This study shows that Cul3 haploinsufficiency in mice causes social and cognitive deficits, cortical volume reduction, and cytoskeletal defects, which are rescued by RhoA inhibition.

The paper uses brain organoids and mathematical models to predict clinical outcomes and develop therapeutics by applying structure-function constraints.

This study identifies brain regions and genes associated with anorexia nervosa using transcriptomic data and genetic variants.

SARS-CoV-2 infects and kills neural cells in iPSC-derived human brain organoids and impairs synaptogenesis; the approved antiviral sofosbuvir is reported to reverse both effects.

This study develops human brainstem organoids containing neural crest cells and various neuron types, validated by single-cell RNA sequencing, proteomics, and electrophysiology.

This paper shows that cortical organoids model early human brain network development by exhibiting oscillatory activity that transitions to patterns resembling preterm EEG.

This study identifies rare paternally-inherited structural variants contributing to autism by disrupting noncoding regions and coding genes, with differential parental contributions.

This study shows that exosomes from control neural cultures can rescue neural development defects in Rett Syndrome by influencing neuron number, apoptosis, and synaptic function.