Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder DOI Creative Commons
Michele Salemi, Francesca A. Schillaci, Giuseppe Lanza

и другие.

Biomedicines, Год журнала: 2024, Номер 12(7), С. 1402 - 1402

Опубликована: Июнь 25, 2024

ASD is a complex condition primarily rooted in genetics, although influenced by environmental, prenatal, and perinatal risk factors, ultimately leading to genetic epigenetic alterations. These mechanisms may manifest as inflammatory, oxidative stress, hypoxic, or ischemic damage. To elucidate potential variances gene expression ASD, transcriptome analysis of peripheral blood mononuclear cells was conducted via RNA-seq on 12 patients 13 healthy controls, all Sicilian ancestry minimize environmental confounds. A total 733 different statistically significant genes were identified between the two cohorts. Gene Set Enrichment Analysis (GSEA) Ontology (GO) terms employed explore pathways differentially expressed mRNAs. GSEA revealed GO strongly associated with namely Biological Process term "Response Oxygen-Containing Compound". Additionally, Cellular Component pathway "Mitochondrion" stood out among other pathways, predominantly affiliated this specific pathway, implicating involvement mitochondrial functions ASD. Among genes,

Язык: Английский

Physical and functional convergence of the autism risk genes Scn2a and Ank2 in neocortical pyramidal cell dendrites DOI Creative Commons
Andrew D. Nelson, Amanda M. Catalfio,

Julie P. Gupta

и другие.

Neuron, Год журнала: 2024, Номер 112(7), С. 1133 - 1149.e6

Опубликована: Янв. 29, 2024

Язык: Английский

Процитировано

19

Making Ramón y Cajal proud: Development of cell identity and diversity in the cerebral cortex DOI
Daniela J. Di Bella, Nuria Domıńguez-Iturza, Juliana Brown

и другие.

Neuron, Год журнала: 2024, Номер 112(13), С. 2091 - 2111

Опубликована: Май 15, 2024

Язык: Английский

Процитировано

19

Human neuronal maturation comes of age: cellular mechanisms and species differences DOI
Jenelle L. Wallace, Alex A. Pollen

Nature reviews. Neuroscience, Год журнала: 2023, Номер 25(1), С. 7 - 29

Опубликована: Ноя. 23, 2023

Язык: Английский

Процитировано

36

Network state transitions during cortical development DOI
M. Wu, Nazim Kourdougli, Carlos Portera‐Cailliau

и другие.

Nature reviews. Neuroscience, Год журнала: 2024, Номер 25(8), С. 535 - 552

Опубликована: Май 23, 2024

Язык: Английский

Процитировано

16

Vocal learning–associated convergent evolution in mammalian proteins and regulatory elements DOI
Morgan Wirthlin, Tobias A. Schmid, Julie E. Elie

и другие.

Science, Год журнала: 2024, Номер 383(6690)

Опубликована: Фев. 29, 2024

Vocal production learning ("vocal learning") is a convergently evolved trait in vertebrates. To identify brain genomic elements associated with mammalian vocal learning, we integrated genomic, anatomical, and neurophysiological data from the Egyptian fruit bat (

Язык: Английский

Процитировано

14

Single-cell technology grows up: Leveraging high-resolution omics approaches to understand neurodevelopmental disorders DOI Creative Commons
Joseph D. Dougherty, Simona Sarafinovska, Sneha Chaturvedi

и другие.

Current Opinion in Neurobiology, Год журнала: 2025, Номер 92, С. 102990 - 102990

Опубликована: Март 3, 2025

Язык: Английский

Процитировано

1

Multi-layered maps of neuropil with segmentation-guided contrastive learning DOI Creative Commons
Sven Dorkenwald, Peter H. Li, Michał Januszewski

и другие.

Nature Methods, Год журнала: 2023, Номер 20(12), С. 2011 - 2020

Опубликована: Ноя. 20, 2023

Maps of the nervous system that identify individual cells along with their type, subcellular components and connectivity have potential to elucidate fundamental organizational principles neural circuits. Nanometer-resolution imaging brain tissue provides necessary raw data, but inferring cellular annotation layers is challenging. We present segmentation-guided contrastive learning representations (SegCLR), a self-supervised machine technique produces directly from 3D imagery segmentations. When applied volumes human mouse cortex, SegCLR enables accurate classification subcompartments achieves performance equivalent supervised approach while requiring 400-fold fewer labeled examples. also inference cell types fragments as small 10 μm, which enhances utility in many neurites are truncated at boundaries. Finally, exploration layer 5 pyramidal subtypes automated large-scale analysis synaptic partners visual cortex.

Язык: Английский

Процитировано

19

Cell-type-specific expression of tRNAs in the brain regulates cellular homeostasis DOI Creative Commons

Mridu Kapur,

Michael J. Molumby,

Carlos Guzman

и другие.

Neuron, Год журнала: 2024, Номер 112(9), С. 1397 - 1415.e6

Опубликована: Фев. 19, 2024

Defects in tRNA biogenesis are associated with multiple neurological disorders, yet our understanding of these diseases has been hampered by an inability to determine expression individual cell types within a complex tissue. Here, we developed mouse model which RNA polymerase III is conditionally epitope tagged Cre-dependent manner, allowing us accurately profile any type vivo. We investigated diverse nervous system types, revealing dramatic heterogeneity the genes between populations. found that while maintenance levels isoacceptor families critical for cellular homeostasis, neurons differentially vulnerable insults distinct families. Cell-type-specific translatome analysis suggests balance availability and codon demand may underlie such differential resilience. Our work provides platform investigating complexities mRNA translation biology brain.

Язык: Английский

Процитировано

7

Early adversity causes sex-specific deficits in perforant pathway connectivity and contextual memory in adolescent mice DOI Creative Commons
Rafiad Islam,

Jordon D. White,

Tanzil Mahmud Arefin

и другие.

Biology of Sex Differences, Год журнала: 2024, Номер 15(1)

Опубликована: Май 7, 2024

Abstract Background Early life adversity impairs hippocampal development and function across diverse species. While initial evidence indicated potential variations between males females, further research is required to validate these observations better understand the underlying mechanisms contributing sex differences. Furthermore, most of preclinical work in rodents was performed adult males, with only few studies examining differences during adolescence when such appear more pronounced. To address concerns, we investigated impact limited bedding (LB), a mouse model early adversity, on prepubescent adolescent male female mice. Methods RNA sequencing, confocal microscopy, electron microscopy were used evaluate LB postnatal day 17 (P17) Additional conducted mice aged P29-36, which included contextual fear conditioning, retrograde tracing, ex vivo diffusion magnetic resonance imaging (dMRI). Results More severe deficits axonal innervation myelination found perforant pathway compared littermates. These due failure reelin-positive neurons located lateral entorhinal cortex (LEC) innervate dorsal hippocampus via but not strongly correlated conditioning. Conclusions capacity cells LEC project Given critical role that projections play supporting normal function, establish proper connectivity provides compelling novel mechanism explain freezing males.

Язык: Английский

Процитировано

6

Medial prefrontal cortex circuitry and social behaviour in autism DOI

Diego H. Mediane,

Shinjini Basu, Emma Cahill

и другие.

Neuropharmacology, Год журнала: 2024, Номер 260, С. 110101 - 110101

Опубликована: Авг. 14, 2024

Язык: Английский

Процитировано

5