Integrating non-mammalian model organisms in the diagnosis of rare genetic diseases in humans
S Yamamoto, O Kanca, MF Wangler… - Nature Reviews …, 2024 - nature.com
Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …
variants of interest in individuals with rare diseases. However, showing that these variants …
The psychiatric cell map initiative: a convergent systems biological approach to illuminating key molecular pathways in neuropsychiatric disorders
Although gene discovery in neuropsychiatric disorders, including autism spectrum disorder,
intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated …
intellectual disability, epilepsy, schizophrenia, and Tourette disorder, has accelerated …
Glia fuel neurons with locally synthesized ketone bodies to sustain memory under starvation
B Silva, OL Mantha, J Schor, A Pascual, PY Plaçais… - Nature …, 2022 - nature.com
During starvation, mammalian brains can adapt their metabolism, switching from glucose to
alternative peripheral fuel sources. In the Drosophila starved brain, memory formation is …
alternative peripheral fuel sources. In the Drosophila starved brain, memory formation is …
A genetic, genomic, and computational resource for exploring neural circuit function
The anatomy of many neural circuits is being characterized with increasing resolution, but
their molecular properties remain mostly unknown. Here, we characterize gene expression …
their molecular properties remain mostly unknown. Here, we characterize gene expression …
Neuronal ROS-induced glial lipid droplet formation is altered by loss of Alzheimer's disease–associated genes
A growing list of Alzheimer's disease (AD) genetic risk factors is being identified, but the
contribution of each variant to disease mechanism remains largely unknown. We have …
contribution of each variant to disease mechanism remains largely unknown. We have …
Using single-cell RNA sequencing to generate predictive cell-type-specific split-GAL4 reagents throughout development
Cell-type-specific tools facilitate the identification and functional characterization of the
distinct cell types that form the complexity of neuronal circuits. A large collection of existing …
distinct cell types that form the complexity of neuronal circuits. A large collection of existing …
[HTML][HTML] A single-cell transcriptomic atlas of the adult Drosophila ventral nerve cord
The Drosophila ventral nerve cord (VNC) receives and processes descending signals from
the brain to produce a variety of coordinated locomotor outputs. It also integrates sensory …
the brain to produce a variety of coordinated locomotor outputs. It also integrates sensory …
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels
In most eukaryotic cells, fatty acid synthesis (FAS) occurs in the cytoplasm and in
mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular …
mitochondria. However, the relative contribution of mitochondrial FAS (mtFAS) to the cellular …
Neuronal activity induces glucosylceramide that is secreted via exosomes for lysosomal degradation in glia
Recessive variants in GBA1 cause Gaucher disease, a prevalent form of lysosome storage
disease. GBA1 encodes a lysosomal enzyme that hydrolyzes glucosylceramide (GlcCer) …
disease. GBA1 encodes a lysosomal enzyme that hydrolyzes glucosylceramide (GlcCer) …
An efficient CRISPR-based strategy to insert small and large fragments of DNA using short homology arms
O Kanca, J Zirin, J Garcia-Marques, SM Knight… - Elife, 2019 - elifesciences.org
We previously reported a CRISPR-mediated knock-in strategy into introns of Drosophila
genes, generating an attP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attP transgenic …
genes, generating an attP-FRT-SA-T2A-GAL4-polyA-3XP3-EGFP-FRT-attP transgenic …