António J. Santinha

ORCID: 0000-0002-1171-3802
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About
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Research Areas
  • CRISPR and Genetic Engineering
  • Single-cell and spatial transcriptomics
  • Cancer-related molecular mechanisms research
  • MicroRNA in disease regulation
  • RNA Research and Splicing
  • Extracellular vesicles in disease
  • Viral Infectious Diseases and Gene Expression in Insects
  • Gene Regulatory Network Analysis
  • RNA and protein synthesis mechanisms
  • RNA Interference and Gene Delivery
  • Retinal Development and Disorders
  • Neuroscience and Neuropharmacology Research
  • Advanced biosensing and bioanalysis techniques
  • Neural dynamics and brain function
  • Cell Image Analysis Techniques
  • Immune cells in cancer
  • Neurogenesis and neuroplasticity mechanisms
  • Congenital heart defects research
  • Zebrafish Biomedical Research Applications
  • Neuroinflammation and Neurodegeneration Mechanisms
  • Genetics, Aging, and Longevity in Model Organisms

ETH Zurich
2019-2024

Centro de Neurociências e Biologia Celular
2023

University of Basel
2023

Fondation Botnar
2023

The ever-growing compendium of genetic variants associated with human pathologies demands new methods to study genotype-phenotype relationships in complex tissues a high-throughput manner1,2. Here we introduce adeno-associated virus (AAV)-mediated direct vivo single-cell CRISPR screening, termed AAV-Perturb-seq, tuneable and broadly applicable method for transcriptional linkage analysis as well high-resolution phenotyping perturbations vivo. We applied AAV-Perturb-seq using gene editing...

10.1038/s41586-023-06570-y article EN cc-by Nature 2023-09-20

Clustered regularly interspaced short palindromic repeats (CRISPR) screens emerged as the gold standard technology in genetic screening recent years. Most CRISPR are conducted vitro, although current technologies fail to completely recapitulate vivo physiological environment. Direct - where cells targeted within their natural niche is emerging a powerful approach unravel biological processes intact tissues and organs, taking into account complex cellular interactions, immune response,...

10.1016/j.ggedit.2021.100008 article EN cc-by-nc-nd Gene and Genome Editing 2021-05-31

Cortical expansion in primate brains relies on enlargement of germinal zones during a prolonged developmental period. Although most mammals have two cortical zones, the ventricular zone (VZ) and subventricular (SVZ), gyrencephalic species display an additional zone, outer (oSVZ), which increases number diversity neurons generated corticogenesis. How oSVZ emerged evolution is poorly understood, but recent studies suggest role for non-coding RNAs, allow tight genetic program regulation...

10.1016/j.celrep.2022.110381 article EN cc-by Cell Reports 2022-02-01

Abstract Viral proteases and clinically safe inhibitors were employed to build integrated compact regulators of protein activity (iCROP) for post-translational regulation functional proteins by tunable proteolytic activity. In the absence inhibitor, co-localized/fused protease cleaves a target peptide sequence introduced in an exposed loop interest, irreversibly fragmenting structure destroying its functionality. We selected three demonstrated versatility iCROP framework validating it...

10.1038/s41421-023-00632-1 article EN cc-by Cell Discovery 2024-01-23

Cortical expansion in the primate brain relies on presence and spatial enlargement of multiple germinal zones during development a prolonged developmental period. In contrast to other mammals, which have two cortical zones, ventricular zone (VZ) subventricular (SVZ), gyrencephalic species display an additional zone, outer (OSVZ), role is increase number types neurons generated corticogenesis. How OSVZ emerged evolution poorly understood but recent studies suggest for non-coding RNAs, allow...

10.2139/ssrn.3836129 article EN SSRN Electronic Journal 2021-01-01

Layer 5 extratelencephalic (ET) neurons are a main class of neocortical projection that predominate in the motor cortex and send their axon to pons spinal cord, collaterals thalamus multiple deep subcerebral structures 1–3 . Precise connectivity ET is critical for fine control; they central loss function upon cord injury specifically degenerate select neurodegenerative disorders 4, consist several types cells with distinct laminar areal locations, molecular identities, connectivities,...

10.1101/2023.06.29.546438 preprint EN bioRxiv (Cold Spring Harbor Laboratory) 2023-06-30

<title>Abstract</title> Layer 5 extratelencephalic (ET) neurons are a main class of neocortical projection that predominate in the motor cortex and send their axon to pons spinal cord, collaterals thalamus multiple deep subcerebral structures. Precise connectivity ET is critical for fine control; they central loss function upon cord injury specifically degenerate select neurodegenerative disorders. consist several types cells with distinct laminar areal locations, molecular identities,...

10.21203/rs.3.rs-3166328/v1 preprint EN cc-by Research Square (Research Square) 2023-07-24

Abstract Cortical expansion in the primate brain relies on presence and spatial enlargement of multiple germinal zones during development a prolonged developmental period. In contrast to other mammals, which have two cortical zones, ventricular zone (VZ) subventricular (SVZ), gyrencephalic species display an additional zone, outer (OSVZ), role is increase number types neurons generated corticogenesis. How OSVZ emerged evolution poorly understood but recent studies suggest for non-coding...

10.1101/2021.04.01.438039 preprint EN cc-by-nc-nd bioRxiv (Cold Spring Harbor Laboratory) 2021-04-02
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