NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients

M Bertacchi, AL Romano, A Loubat… - The EMBO …, 2020 - embopress.org
The relationships between impaired cortical development and consequent malformations in
neurodevelopmental disorders, as well as the genes implicated in these processes, are not …

The pleiotropic transcriptional regulator COUP-TFI plays multiple roles in neural development and disease

M Bertacchi, J Parisot, M Studer - Brain research, 2019 - Elsevier
Transcription factors are expressed in a dynamic fashion both in time and space during brain
development, and exert their roles by activating a cascade of multiple target genes. This …

[HTML][HTML] Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome

M Bertacchi, C Tocco, CP Schaaf, M Studer - Cells, 2022 - mdpi.com
The formation and maturation of the human brain is regulated by highly coordinated
developmental events, such as neural cell proliferation, migration and differentiation. Any …

[HTML][HTML] Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology

C Tocco, M Bertacchi, M Studer - Frontiers in Molecular Neuroscience, 2021 - frontiersin.org
The assembly and maturation of the mammalian brain result from an intricate cascade of
highly coordinated developmental events, such as cell proliferation, migration, and …

Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome

M Bertacchi, A Gruart, P Kaimakis, C Allet… - EMBO molecular …, 2019 - embopress.org
Optic nerve atrophy represents the most common form of hereditary optic neuropathies
leading to vision impairment. The recently described Bosch‐Boonstra‐Schaaf optic atrophy ( …

[PDF][PDF] The Parkinson's-disease-associated mutation LRRK2-G2019S alters dopaminergic differentiation dynamics via NR2F1

…, R Perfeito, F Hoel, X Qing, J Ohnmacht, M Bertacchi… - Cell Reports, 2021 - cell.com
Increasing evidence suggests that neurodevelopmental alterations might contribute to increase
the susceptibility to develop neurodegenerative diseases. We investigate the occurrence …

COUP-TFI/Nr2f1 orchestrates intrinsic neuronal activity during development of the somatosensory cortex

…, C Ferraguto, G Tomagra, M Bertacchi… - Cerebral …, 2020 - academic.oup.com
The formation of functional cortical maps in the cerebral cortex results from a timely regulated
interaction between intrinsic genetic mechanisms and electrical activity. To understand …

[HTML][HTML] From pluripotency to forebrain patterning: an in vitro journey astride embryonic stem cells

G Lupo, M Bertacchi, N Carucci… - Cellular and molecular …, 2014 - Springer
Embryonic stem cells (ESCs) have been used extensively as in vitro models of neural
development and disease, with special efforts towards their conversion into forebrain progenitors …

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

N Jurkute, M Bertacchi, G Arno, C Tocco… - Brain …, 2021 - academic.oup.com
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder
referred to as the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Although visual loss is …

Rn7SK small nuclear RNA is involved in neuronal differentiation

Z Bazi, M Bertacchi, M Abasi… - Journal of Cellular …, 2018 - Wiley Online Library
Rn7SK‐mediated global transcriptional regulation, key function of this small nuclear RNA (snRNA),
is mediated by inhibition of the positive transcription elongation factor b (P‐TEFb). …