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Article: p53, A Victim of the Prion Fashion.

Billant, Olivier / Friocourt, Gaëlle / Roux, Pierre / Voisset, Cécile

2021 Volume 13, Issue 2

Abstract: Identified in the late 1970s as an oncogene, a driving force leading to tumor development, p53 turned out to be a key tumor suppressor gene. Now p53 is considered a master gene regulating the transcription of over 3000 target genes and controlling a ... ...

Abstract	Identified in the late 1970s as an oncogene, a driving force leading to tumor development, p53 turned out to be a key tumor suppressor gene. Now p53 is considered a master gene regulating the transcription of over 3000 target genes and controlling a remarkable number of cellular functions. The elevated prevalence of p53 mutations in human cancers has led to a recurring questioning about the roles of mutant p53 proteins and their functional consequences. Both mutants and isoforms of p53 have been attributed dominant-negative and gain of function properties among which is the ability to form amyloid aggregates and behave in a prion-like manner. This report challenges the ongoing "prion p53" hypothesis by reviewing evidence of p53 behavior in light of our current knowledge regarding amyloid proteins, prionoids and prions.
Language	English
Publishing date	2021-01-13
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2527080-1
ISSN	2072-6694
ISSN	2072-6694
DOI	10.3390/cancers13020269
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Article: New insights into the regulation of

Conan, Pierre / Léon, Alice / Caroff, Noéline / Rollet, Claire / Chaïr, Loubna / Martin, Jennifer / Bihel, Frédéric / Mignen, Olivier / Voisset, Cécile / Friocourt, Gaëlle

Frontiers in neuroscience

2023 Volume 16, Page(s) 1110163

Abstract: Down syndrome (DS), the most frequent chromosomic aberration, results from the presence of an extra copy of chromosome 21. The identification of genes which overexpression contributes to intellectual disability (ID) in DS is important to understand the ... ...

Abstract	Down syndrome (DS), the most frequent chromosomic aberration, results from the presence of an extra copy of chromosome 21. The identification of genes which overexpression contributes to intellectual disability (ID) in DS is important to understand the pathophysiological mechanisms involved and develop new pharmacological therapies. In particular, gene dosage of
Language	English
Publishing date	2023-01-09
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2411902-7
ISSN	1662-453X ; 1662-4548
ISSN (online)	1662-453X
ISSN	1662-4548
DOI	10.3389/fnins.2022.1110163
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Article ; Online: Bypassing Mendel's First Law: Transmission Ratio Distortion in Mammals.

Friocourt, Gaëlle / Perrin, Aurore / Saunders, Paul A / Nikalayevich, Elvira / Voisset, Cécile / Coutton, Charles / Martinez, Guillaume / Morel, Frédéric

International journal of molecular sciences

2023 Volume 24, Issue 2

Abstract: Mendel's law of segregation states that the two alleles at a diploid locus should be transmitted equally to the progeny. A genetic segregation distortion, also referred to as transmission ratio distortion (TRD), is a statistically significant deviation ... ...

Abstract	Mendel's law of segregation states that the two alleles at a diploid locus should be transmitted equally to the progeny. A genetic segregation distortion, also referred to as transmission ratio distortion (TRD), is a statistically significant deviation from this rule. TRD has been observed in several mammal species and may be due to different biological mechanisms occurring at diverse time points ranging from gamete formation to lethality at post-natal stages. In this review, we describe examples of TRD and their possible mechanisms in mammals based on current knowledge. We first focus on the differences between TRD in male and female gametogenesis in the house mouse, in which some of the most well studied TRD systems have been characterized. We then describe known TRD in other mammals, with a special focus on the farmed species and in the peculiar common shrew species. Finally, we discuss TRD in human diseases. Thus far, to our knowledge, this is the first time that such description is proposed. This review will help better comprehend the processes involved in TRD. A better understanding of these molecular mechanisms will imply a better comprehension of their impact on fertility and on genome evolution. In turn, this should allow for better genetic counseling and lead to better care for human families.
MeSH term(s)	Animals ; Mice ; Humans ; Male ; Female ; Germ Cells ; Mammals/genetics
Language	English
Publishing date	2023-01-13
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms24021600
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Article ; Conference proceedings: From genes to human diseases in cortical development.

Friocourt, Gaëlle

BioEssays : news and reviews in molecular, cellular and developmental biology

2007 Volume 29, Issue 7, Page(s) 706–709

MeSH term(s)	Animals ; Brain Diseases/genetics ; Cerebral Cortex/cytology ; Cerebral Cortex/growth & development ; Genetic Predisposition to Disease ; Humans ; Mice ; Mice, Knockout ; Primates
Language	English
Publishing date	2007-07
Publishing country	United States
Document type	Congresses
ZDB-ID	50140-2
ISSN	1521-1878 ; 0265-9247
ISSN (online)	1521-1878
ISSN	0265-9247
DOI	10.1002/bies.20603
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Article ; Online: Oligodendrocyte lineage is severely affected in human alcohol-exposed foetuses.

Marguet, Florent / Brosolo, Mélanie / Friocourt, Gaëlle / Sauvestre, Fanny / Marcorelles, Pascale / Lesueur, Céline / Marret, Stéphane / Gonzalez, Bruno J / Laquerrière, Annie

Acta neuropathologica communications

2022 Volume 10, Issue 1, Page(s) 74

Abstract: Prenatal alcohol exposure is a major cause of neurobehavioral disabilities. MRI studies in humans have shown that alcohol is associated with white matter microstructural anomalies but these studies focused on myelin abnormalities only after birth. Only ... ...

Abstract	Prenatal alcohol exposure is a major cause of neurobehavioral disabilities. MRI studies in humans have shown that alcohol is associated with white matter microstructural anomalies but these studies focused on myelin abnormalities only after birth. Only one of these studies evaluated oligodendrocyte lineage, but only for a short period during human foetal life. As data are lacking in humans and alcohol is known to impair oligodendrocyte differentiation in rodents, the present study aimed to compare by immunohistochemistry the oligodendrocyte precursor cells expressing PDGFR-α and immature premyelinating/mature oligodendrocytes expressing Olig2 in the ganglionic eminences and the frontal cortex of 14 human foetuses exposed to alcohol from 15 to 37 weeks' gestation with age-matched controls. The human brains used in this study were obtained at the time of foetal autopsies for medical termination of pregnancy, in utero or post-natal early death. Before birth, PDGFR-α expression was strongly increased in the ganglionic eminences and the cortex of all foetuses exposed to alcohol except at the earliest stage. No massive generation of Olig2 immunoreactive cells was identified in the ganglionic eminences until the end of pregnancy and the density of Olig2-positive cells within the cortex was consistently lower in foetuses exposed to alcohol than in controls. These antenatal data from humans provides further evidence of major oligodendrocyte lineage impairment at specific and key stages of brain development upon prenatal alcohol exposure including defective or delayed generation and maturation of oligodendrocyte precursors.
MeSH term(s)	Cell Differentiation ; Cell Lineage ; Ethanol/toxicity ; Female ; Fetus/metabolism ; Humans ; Myelin Sheath/metabolism ; Oligodendrocyte Transcription Factor 2/metabolism ; Oligodendroglia/metabolism ; Pregnancy ; Prenatal Exposure Delayed Effects/metabolism
Chemical Substances	Oligodendrocyte Transcription Factor 2 ; Ethanol (3K9958V90M)
Language	English
Publishing date	2022-05-14
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2715589-4
ISSN	2051-5960 ; 2051-5960
ISSN (online)	2051-5960
ISSN	2051-5960
DOI	10.1186/s40478-022-01378-9
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Article ; Online: Mechanism of cystathionine-β-synthase inhibition by disulfiram: The role of bis(N,N-diethyldithiocarbamate)-copper(II).

Zuhra, Karim / Panagaki, Theodora / Randi, Elisa B / Augsburger, Fiona / Blondel, Marc / Friocourt, Gaelle / Herault, Yann / Szabo, Csaba

Biochemical pharmacology

2020 Volume 182, Page(s) 114267

Abstract: Background: Hydrogen sulfide (H: Methods: H: Results: While disulfiram did not exert any significant direct inhibitory effect on any of the H: Conclusions: Disulfiram, via its metabolite CuDDC acts as an inhibitor of CBS and a scavenger of ... ...

Abstract	Background: Hydrogen sulfide (H Methods: H Results: While disulfiram did not exert any significant direct inhibitory effect on any of the H Conclusions: Disulfiram, via its metabolite CuDDC acts as an inhibitor of CBS and a scavenger of H
MeSH term(s)	Acetaldehyde Dehydrogenase Inhibitors/metabolism ; Acetaldehyde Dehydrogenase Inhibitors/pharmacology ; Animals ; Cell Survival/drug effects ; Cell Survival/physiology ; Chelating Agents/metabolism ; Chelating Agents/pharmacology ; Copper/metabolism ; Copper/pharmacology ; Cystathionine beta-Synthase/antagonists & inhibitors ; Cystathionine beta-Synthase/metabolism ; Disulfiram/metabolism ; Disulfiram/pharmacology ; Ditiocarb/analogs & derivatives ; Ditiocarb/metabolism ; Ditiocarb/pharmacology ; Dose-Response Relationship, Drug ; Female ; HCT116 Cells ; Humans ; Liver/drug effects ; Liver/metabolism ; Mice ; Mice, Inbred BALB C ; Organometallic Compounds/metabolism ; Organometallic Compounds/pharmacology
Chemical Substances	Acetaldehyde Dehydrogenase Inhibitors ; Chelating Agents ; Organometallic Compounds ; bis(N,N-diethyldithiocarbamate)Cu (II) complex (13681-87-3) ; Copper (789U1901C5) ; Ditiocarb (99Z2744345) ; Cystathionine beta-Synthase (EC 4.2.1.22) ; Disulfiram (TR3MLJ1UAI)
Language	English
Publishing date	2020-10-07
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	208787-x
ISSN	1873-2968 ; 0006-2952
ISSN (online)	1873-2968
ISSN	0006-2952
DOI	10.1016/j.bcp.2020.114267
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Article ; Online: Prenatal alcohol exposure is a leading cause of interneuronopathy in humans.

Marguet, Florent / Friocourt, Gaëlle / Brosolo, Mélanie / Sauvestre, Fanny / Marcorelles, Pascale / Lesueur, Céline / Marret, Stéphane / Gonzalez, Bruno J / Laquerrière, Annie

Acta neuropathologica communications

2020 Volume 8, Issue 1, Page(s) 208

Abstract: Alcohol affects multiple neurotransmitter systems, notably the GABAergic system and has been recognised for a long time as particularly damaging during critical stages of brain development. Nevertheless, data from the literature are most often derived ... ...

Abstract	Alcohol affects multiple neurotransmitter systems, notably the GABAergic system and has been recognised for a long time as particularly damaging during critical stages of brain development. Nevertheless, data from the literature are most often derived from animal or in vitro models. In order to study the production, migration and cortical density disturbances of GABAergic interneurons upon prenatal alcohol exposure, we performed immunohistochemical studies by means of the proliferation marker Ki67, GABA and calretinin antibodies in the frontal cortical plate of 17 foetal and infant brains antenatally exposed to alcohol, aged 15 weeks' gestation to 22 postnatal months and in the ganglionic eminences and the subventricular zone of the dorsal telencephalon until their regression, i.e., 34 weeks' gestation. Results were compared with those obtained in 17 control brains aged 14 weeks of gestation to 35 postnatal months. We also focused on interneuron vascular migration along the cortical microvessels by confocal microscopy with double immunolabellings using Glut1, GABA and calretinin. Semi-quantitative and quantitative analyses of GABAergic and calretininergic interneuron density allowed us to identify an insufficient and delayed production of GABAergic interneurons in the ganglionic eminences during the two first trimesters of the pregnancy and a delayed incorporation into the laminar structures of the frontal cortex. Moreover, a mispositioning of GABAergic and calretininergic interneurons persisted throughout the foetal life, these cells being located in the deep layers instead of the superficial layers II and III. Moreover, vascular migration of calretininergic interneurons within the cortical plate was impaired, as reflected by low numbers of interneurons observed close to the cortical perforating vessel walls that may in part explain their abnormal intracortical distribution. Our results are globally concordant with those previously obtained in mouse models, in which alcohol has been shown to induce an interneuronopathy by affecting interneuron density and positioning within the cortical plate, and which could account for the neurological disabilities observed in children with foetal alcohol disorder spectrum.
MeSH term(s)	Alcohol Drinking ; Alcoholism ; Binge Drinking ; Brain/embryology ; Brain/metabolism ; Brain/pathology ; Calbindin 2/metabolism ; Case-Control Studies ; Cell Movement ; Female ; Fetal Alcohol Spectrum Disorders/metabolism ; Fetal Alcohol Spectrum Disorders/pathology ; Fetus/embryology ; Fetus/metabolism ; Fetus/pathology ; Frontal Lobe/embryology ; Frontal Lobe/metabolism ; Frontal Lobe/pathology ; GABAergic Neurons/metabolism ; GABAergic Neurons/pathology ; Humans ; Infant ; Infant, Newborn ; Interneurons/metabolism ; Interneurons/pathology ; Ki-67 Antigen/metabolism ; Male ; Pregnancy ; Pregnancy Complications ; Pregnancy Trimester, Second ; Prenatal Exposure Delayed Effects/metabolism ; Prenatal Exposure Delayed Effects/pathology ; Telencephalon/embryology ; Telencephalon/metabolism ; Telencephalon/pathology ; gamma-Aminobutyric Acid/metabolism
Chemical Substances	CALB2 protein, human ; Calbindin 2 ; Ki-67 Antigen ; MKI67 protein, human ; gamma-Aminobutyric Acid (56-12-2)
Language	English
Publishing date	2020-11-30
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2715589-4
ISSN	2051-5960 ; 2051-5960
ISSN (online)	2051-5960
ISSN	2051-5960
DOI	10.1186/s40478-020-01089-z
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Article ; Online: Identification of Arx targets unveils new candidates for controlling cortical interneuron migration and differentiation.

Friocourt, Gaëlle / Parnavelas, John G

Frontiers in cellular neuroscience

2011 Volume 5, Page(s) 28

Abstract: Mutations in the homeobox transcription factor ARX have been found to be responsible for a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild forms of intellectual disabilities ... ...

Abstract	Mutations in the homeobox transcription factor ARX have been found to be responsible for a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild forms of intellectual disabilities without apparent brain abnormalities, but with associated features of dystonia and epilepsy. Arx expression is mainly restricted to populations of GABA-containing neurons. Studies of the effects of ARX loss of function, either in humans or mutant mice, revealed varying defects, suggesting multiple roles of this gene in brain patterning, neuronal proliferation and migration, cell maturation and differentiation, as well as axonal outgrowth and connectivity. However, to date, little is known about how Arx functions as a transcription factor or which genes it binds and regulates. Recently, we combined chromatin immunoprecipitation and mRNA expression with microarray analysis and identified approximately 1000 gene promoters bound by Arx in transfected neuroblastoma N2a cells and mouse embryonic brain. To narrow the analysis of Arx targets to those most likely to control cortical interneuron migration and/or differentiation, we compare here our data to previously published studies searching for genes enriched or down-regulated in cortical interneurons between E13.5 and E15.5. We thus identified 14 Arx-target genes enriched (Cxcr7, Meis1, Ppap2a, Slc 12a5, Ets2, Phlda1, Egr1, Igf1, Lmo3, Sema6, Lgi1, Alk, Tgfb3, and Napb) and 5 genes specifically down-regulated (Hmgn3, Lmo1, Ebf3, Rasgef1b, and Slit2) in cortical migrating neurons. In this review, we present these genes and discuss how their possible regulation by Arx may lead to the dysfunction of GABAergic neurons, resulting in mental retardation and epilepsy.
Language	English
Publishing date	2011-12-27
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452963-1
ISSN	1662-5102 ; 1662-5102
ISSN (online)	1662-5102
ISSN	1662-5102
DOI	10.3389/fnbeh.2011.00028
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Article ; Online: Mutations in ARX Result in Several Defects Involving GABAergic Neurons.

Friocourt, Gaëlle / Parnavelas, John G

Frontiers in cellular neuroscience

2010 Volume 4, Page(s) 4

Abstract: Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental ... ...

Abstract	Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental retardation without apparent brain abnormalities, but with associated features of dystonia and epilepsy. These investigations have in recent years directed attention to the role of this gene in brain development. Analysis of its spatio-temporal localization profile revealed expression in telencephalic structures at all stages of development, mainly restricted to populations of GABA-containing neurons. Furthermore, studies of the effects of ARX loss of function either in humans or in lines of mutant mice revealed varying defects, suggesting multiple roles of this gene during development. In particular, Arx has been shown to contribute to almost all fundamental processes of brain development: patterning, neuronal proliferation and migration, cell maturation and differentiation, as well as axonal outgrowth and connectivity. In this review, we will present and discuss recent findings concerning the role of ARX in brain development and how this information will be useful to better understand the pathophysiological mechanisms of mental retardation and epilepsy associated with ARX mutations.
Language	English
Publishing date	2010-03-11
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2452963-1
ISSN	1662-5102 ; 1662-5102
ISSN (online)	1662-5102
ISSN	1662-5102
DOI	10.3389/fncel.2010.00004
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Article ; Online: De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.

Tessarech, Marine / Friocourt, Gaëlle / Marguet, Florent / Lecointre, Maryline / Le Mao, Morgane / Díaz, Rodrigo Muñoz / Mignot, Cyril / Keren, Boris / Héron, Bénédicte / De Bie, Charlotte / Van Gassen, Koen / Loisel, Didier / Delorme, Benoit / Syrbe, Steffen / Klabunde-Cherwon, Annick / Jamra, Rami Abou / Wegler, Meret / Callewaert, Bert / Dheedene, Annelies /

Zidane-Marinnes, Merzouka / Guichet, Agnès / Bris, Céline / Van Bogaert, Patrick / Biquard, Florence / Lenaers, Guy / Marcorelles, Pascale / Ferec, Claude / Gonzalez, Bruno / Procaccio, Vincent / Vitobello, Antonio / Bonneau, Dominique / Laquerriere, Annie / Khiati, Salim / Colin, Estelle

Genetics in medicine : official journal of the American College of Medical Genetics

2024 Volume 26, Issue 5, Page(s) 101087

Abstract: Purpose: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, ... ...

Abstract	Purpose: Interneuronopathies are a group of neurodevelopmental disorders characterized by deficient migration and differentiation of gamma-aminobutyric acidergic interneurons resulting in a broad clinical spectrum, including autism spectrum disorders, early-onset epileptic encephalopathy, intellectual disability, and schizophrenic disorders. SP9 is a transcription factor belonging to the Krüppel-like factor and specificity protein family, the members of which harbor highly conserved DNA-binding domains. SP9 plays a central role in interneuron development and tangential migration, but it has not yet been implicated in a human neurodevelopmental disorder. Methods: Cases with SP9 variants were collected through international data-sharing networks. To address the specific impact of SP9 variants, in silico and in vitro assays were carried out. Results: De novo heterozygous variants in SP9 cause a novel form of interneuronopathy. SP9 missense variants affecting the glutamate 378 amino acid result in severe epileptic encephalopathy because of hypomorphic and neomorphic DNA-binding effects, whereas SP9 loss-of-function variants result in a milder phenotype with epilepsy, developmental delay, and autism spectrum disorder. Conclusion: De novo heterozygous SP9 variants are responsible for a neurodevelopmental disease. Interestingly, variants located in conserved DNA-binding domains of KLF/SP family transcription factors may lead to neomorphic DNA-binding functions resulting in a combination of loss- and gain-of-function effects.
Language	English
Publishing date	2024-01-27
Publishing country	United States
Document type	Journal Article
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1016/j.gim.2024.101087
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