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 …
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 …
development, and exert their roles by activating a cascade of multiple target genes. This …
[HTML][HTML] Pathophysiological heterogeneity of the BBSOA neurodevelopmental syndrome
The formation and maturation of the human brain is regulated by highly coordinated
developmental events, such as neural cell proliferation, migration and differentiation. Any …
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 …
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 ( …
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 …
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 …
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 …
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
Pathogenic NR2F1 variants cause a rare autosomal dominant neurodevelopmental disorder
referred to as the Bosch–Boonstra–Schaaf Optic Atrophy Syndrome. Although visual loss is …
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). …
is mediated by inhibition of the positive transcription elongation factor b (P‐TEFb). …