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Article ; Online: Genetic Primary Microcephalies

Sarah Farcy / Hassina Hachour / Nadia Bahi-Buisson / Sandrine Passemard

Cells, Vol 12, Iss 1807, p

When Centrosome Dysfunction Dictates Brain and Body Size

2023 Volume 1807

Abstract: Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes ... ...

Abstract	Primary microcephalies (PMs) are defects in brain growth that are detectable at or before birth and are responsible for neurodevelopmental disorders. Most are caused by biallelic or, more rarely, dominant mutations in one of the likely hundreds of genes encoding PM proteins, i.e., ubiquitous centrosome or microtubule-associated proteins required for the division of neural progenitor cells in the embryonic brain. Here, we provide an overview of the different types of PMs, i.e., isolated PMs with or without malformations of cortical development and PMs associated with short stature (microcephalic dwarfism) or sensorineural disorders. We present an overview of the genetic, developmental, neurological, and cognitive aspects characterizing the most representative PMs. The analysis of phenotypic similarities and differences among patients has led scientists to elucidate the roles of these PM proteins in humans. Phenotypic similarities indicate possible redundant functions of a few of these proteins, such as ASPM and WDR62, which play roles only in determining brain size and structure. However, the protein pericentrin (PCNT) is equally required for determining brain and body size. Other PM proteins perform both functions, albeit to different degrees. Finally, by comparing phenotypes, we considered the interrelationships among these proteins.
Keywords	microcephalic dwarfism ; centrosome ; primary microcephalies ; MCPH ; brain development disorders ; neural progenitors division ; Biology (General) ; QH301-705.5
Subject code	616
Language	English
Publishing date	2023-07-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Activation of the PI3K/AKT/mTOR Pathway in Cajal–Retzius Cells Leads to Their Survival and Increases Susceptibility to Kainate-Induced Seizures

Nasim Ramezanidoraki / Driss El Ouardi / Margaux Le / Stéphanie Moriceau / Mahboubeh Ahmadi / Dossi Elena / Danae Rolland / Philippe Bun / Gwenaëlle Le Pen / Guillaume Canaud / Nadia Bahi-Buisson / Nathalie Rouach / Rebecca Piskorowski / Alessandra Pierani / Pierre Billuart

International Journal of Molecular Sciences, Vol 24, Iss 5376, p

2023 Volume 5376

Abstract: Cajal–Retzius cells (CRs) are a class of transient neurons in the mammalian cortex that play a critical role in cortical development. Neocortical CRs undergo almost complete elimination in the first two postnatal weeks in rodents and the persistence of ... ...

Abstract	Cajal–Retzius cells (CRs) are a class of transient neurons in the mammalian cortex that play a critical role in cortical development. Neocortical CRs undergo almost complete elimination in the first two postnatal weeks in rodents and the persistence of CRs during postnatal life has been detected in pathological conditions related to epilepsy. However, it is unclear whether their persistence is a cause or consequence of these diseases. To decipher the molecular mechanisms involved in CR death, we investigated the contribution of the PI3K/AKT/mTOR pathway as it plays a critical role in cell survival. We first showed that this pathway is less active in CRs after birth before massive cell death. We also explored the spatio-temporal activation of both AKT and mTOR pathways and reveal area-specific differences along both the rostro–caudal and medio–lateral axes. Next, using genetic approaches to maintain an active pathway in CRs, we found that the removal of either PTEN or TSC1, two negative regulators of the pathway, lead to differential CR survivals, with a stronger effect in the Pten model. Persistent cells in this latter mutant are still active. They express more Reelin and their persistence is associated with an increase in the duration of kainate-induced seizures in females. Altogether, we show that the decrease in PI3K/AKT/mTOR activity in CRs primes these cells to death by possibly repressing a survival pathway, with the mTORC1 branch contributing less to the phenotype.
Keywords	development ; Cajal–Retzius cells ; neuronal survival ; PI3K/AKT/mTOR pathway ; Biology (General) ; QH301-705.5 ; Chemistry ; QD1-999
Subject code	570
Language	English
Publishing date	2023-03-01T00:00:00Z
Publisher	MDPI AG
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Endosomal trafficking defects alter neural progenitor proliferation and cause microcephaly

Jacopo A. Carpentieri / Amandine Di Cicco / Marusa Lampic / David Andreau / Laurence Del Maestro / Fatima El Marjou / Laure Coquand / Nadia Bahi-Buisson / Jean-Baptiste Brault / Alexandre D. Baffet

Nature Communications, Vol 13, Iss 1, Pp 1-

2022 Volume 12

Abstract: Mutations in the human WDR81 gene result in severe microcephaly. Carpentieri et al. show that mutation of WDR81, a gene coding for an endosomal regulator, alters intracellular processing of the EGF receptor, leading to reduced proliferation rates of ... ...

Abstract	Mutations in the human WDR81 gene result in severe microcephaly. Carpentieri et al. show that mutation of WDR81, a gene coding for an endosomal regulator, alters intracellular processing of the EGF receptor, leading to reduced proliferation rates of neuronal progenitors and to microcephaly.
Keywords	Science ; Q
Language	English
Publishing date	2022-01-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development

Delfina M. Romero / Karine Poirier / Richard Belvindrah / Imane Moutkine / Anne Houllier / Anne-Gaëlle LeMoing / Florence Petit / Anne Boland / Stephan C. Collins / Mariano Soiza-Reilly / Binnaz Yalcin / Jamel Chelly / Jean-François Deleuze / Nadia Bahi-Buisson / Fiona Francis

Nature Communications, Vol 13, Iss 1, Pp 1-

2022 Volume 19

Abstract: The Dlgap protein family members are known for their role in synapses. Here the authors reveal important involvement in earlier steps of brain development, identifying DLGAP4 mutations in patients with cortical malformations, and also demonstrating a ... ...

Abstract	The Dlgap protein family members are known for their role in synapses. Here the authors reveal important involvement in earlier steps of brain development, identifying DLGAP4 mutations in patients with cortical malformations, and also demonstrating a role in progenitors and migrating neurons.
Keywords	Science ; Q
Language	English
Publishing date	2022-05-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Next generation phenotyping using narrative reports in a rare disease clinical data warehouse

Nicolas Garcelon / Antoine Neuraz / Rémi Salomon / Nadia Bahi-Buisson / Jeanne Amiel / Capucine Picard / Nizar Mahlaoui / Vincent Benoit / Anita Burgun / Bastien Rance

Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-

2018 Volume 11

Abstract: Abstract Background Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Children’s Hospital ... ...

Abstract	Abstract Background Secondary use of data collected in Electronic Health Records opens perspectives for increasing our knowledge of rare diseases. The clinical data warehouse (named Dr. Warehouse) at the Necker-Enfants Malades Children’s Hospital contains data collected during normal care for thousands of patients. Dr. Warehouse is oriented toward the exploration of clinical narratives. In this study, we present our method to find phenotypes associated with diseases of interest. Methods We leveraged the frequency and TF-IDF to explore the association between clinical phenotypes and rare diseases. We applied our method in six use cases: phenotypes associated with the Rett, Lowe, Silver Russell, Bardet-Biedl syndromes, DOCK8 deficiency and Activated PI3-kinase Delta Syndrome (APDS). We asked domain experts to evaluate the relevance of the top-50 (for frequency and TF-IDF) phenotypes identified by Dr. Warehouse and computed the average precision and mean average precision. Results Experts concluded that between 16 and 39 phenotypes could be considered as relevant in the top-50 phenotypes ranked by descending frequency discovered by Dr. Warehouse (resp. between 11 and 41 for TF-IDF). Average precision ranges from 0.55 to 0.91 for frequency and 0.52 to 0.95 for TF-IDF. Mean average precision was 0.79. Our study suggests that phenotypes identified in clinical narratives stored in Electronic Health Record can provide rare disease specialists with candidate phenotypes that can be used in addition to the literature. Conclusions Clinical Data Warehouses can be used to perform Next Generation Phenotyping, especially in the context of rare diseases. We have developed a method to detect phenotypes associated with a group of patients using medical concepts extracted from free-text clinical narratives.
Keywords	Data warehouse ; Next generation phenotyping ; Data mining ; Rare diseases ; Natural language processing ; Medicine ; R
Subject code	610
Language	English
Publishing date	2018-05-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: MeCP2 deficiency is associated with impaired microtubule stability

Delépine, Chloé / Juliette Nectoux / Nadia Bahi-Buisson / Jamel Chelly / Thierry Bienvenu

Federation of European Biochemical Societies FEBS letters. 2013 Jan. 16, v. 587, no. 2

2013

Abstract: Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Previous studies performed on Mecp2-deficient brain showed striking changes in neuronal maturation. We recently showed that MeCP2 deficiency affects microtubule (MT) dynamics ...

Abstract	Rett syndrome (RTT) is a neurodevelopmental disorder caused by MECP2 mutations. Previous studies performed on Mecp2-deficient brain showed striking changes in neuronal maturation. We recently showed that MeCP2 deficiency affects microtubule (MT) dynamics in RTT astrocytes. Here, we analyze MT stability in primary fibroblast cultures from patients with RTT syndrome and identify a significant decrease in stability compared to controls. Furthermore, we found that MT stability was reduced both in cells expressing the mutant or the wild-type allele in RTT fibroblasts, suggesting that mutated cells could damage wild-type ones through a non-cell-autonomous pathway. These results suggest that MeCP2 has a stabilizing role on MT dynamics and that its deficiency could lead to impaired MT stability that may explain in part the dendritic abnormalities observed in RTT brains.
Keywords	alleles ; astrocytes ; brain ; fibroblasts ; microtubules ; mutants ; mutation ; patients
Language	English
Dates of publication	2013-0116
Size	p. 245-253.
Publishing place	Elsevier B.V.
Document type	Article
ZDB-ID	212746-5
ISSN	1873-3468 ; 0014-5793
ISSN (online)	1873-3468
ISSN	0014-5793
DOI	10.1016/j.febslet.2012.11.033
Database	NAL-Catalogue (AGRICOLA)

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Article: Cryo-EM Reveals How Human Cytoplasmic Dynein Is Auto-inhibited and Activated

Zhang, Kai / Helen E. Foster / Arnaud Rondelet / Samuel E. Lacey / Nadia Bahi-Buisson / Alexander W. Bird / Andrew P. Carter

Cell. 2017,

2017

Abstract: Cytoplasmic dynein-1 binds dynactin and cargo adaptor proteins to form a transport machine capable of long-distance processive movement along microtubules. However, it is unclear why dynein-1 moves poorly on its own or how it is activated by dynactin. ... ...

Abstract	Cytoplasmic dynein-1 binds dynactin and cargo adaptor proteins to form a transport machine capable of long-distance processive movement along microtubules. However, it is unclear why dynein-1 moves poorly on its own or how it is activated by dynactin. Here, we present a cryoelectron microscopy structure of the complete 1.4-megadalton human dynein-1 complex in an inhibited state known as the phi-particle. We reveal the 3D structure of the cargo binding dynein tail and show how self-dimerization of the motor domains locks them in a conformation with low microtubule affinity. Disrupting motor dimerization with structure-based mutagenesis drives dynein-1 into an open form with higher affinity for both microtubules and dynactin. We find the open form is also inhibited for movement and that dynactin relieves this by reorienting the motor domains to interact correctly with microtubules. Our model explains how dynactin binding to the dynein-1 tail directly stimulates its motor activity.
Keywords	cryo-electron microscopy ; dimerization ; dynein ATPase ; humans ; microtubules ; models ; mutagenesis ; proteins
Language	English
Size	p. .
Publishing place	Elsevier Inc.
Document type	Article
Note	Pre-press version
ZDB-ID	187009-9
ISSN	1097-4172 ; 0092-8674
ISSN (online)	1097-4172
ISSN	0092-8674
DOI	10.1016/j.cell.2017.05.025
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Lower incidence of fracture after IV bisphosphonates in girls with Rett syndrome and severe bone fragility.

Anne-Sophie Lambert / Anya Rothenbuhler / Perrine Charles / Sylvie Brailly-Tabard / Séverine Trabado / Elisabeth Célestin / Emmanuel Durand / Isabelle Fontaine / Lotfi Miladi / Philippe Wicart / Nadia Bahi-Buisson / Agnès Linglart

PLoS ONE, Vol 12, Iss 10, p e

2017 Volume 0186941

Abstract: Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.To retrospectively ... ...

Abstract	Classic Rett Syndrome (RS) is a disabling condition mainly caused by MECP2 mutations. Girls with RS are at risk of developing bone fragility and fractures at a young age which results in pain and may seriously impair quality of life.To retrospectively assess the safety and efficacy of IV bisphosphonates on fracture, bone mineral density (BMD) and bone markers in RS girls with bone fragility.RS girls received either IV pamidronate (n = 19) or IV zoledronate (n = 1) for 2 years.Of 20 patients studied (age: 12.5 years [6; 39]), 14 were non-ambulatory. The incidence of fracture decreased from 37 fractures in 20 patients, to 1 fracture during or after treatment (follow-up: 3.1 years [1.5; 5]). The spine BMD Z-score improved from -3.2 [-5.6; -0.1] to -2.2 [-3.8; 0.0], p = 0.0006. Most parents reported decreases in chronic pain and 2 patients started to walk. Urinary calcium excretion decreased from 0.7 [0.18; 1.5] to 0.2 [0.03; 0.67] mM/mM of creatinine (p = 0.0001). Pamidronate was well tolerated.RS girls should be screened for impaired bone mineralization and preventive measures should be taken. In girls experiencing fractures, IV bisphosphonates constitute a beneficial adjuvant treatment to diminish the risk of fracture and restore bone density.
Keywords	Medicine ; R ; Science ; Q
Subject code	616
Language	English
Publishing date	2017-01-01T00:00:00Z
Publisher	Public Library of Science (PLoS)
Document type	Article ; Online
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Article ; Online: Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis.

Masnada, Silvia / Chiara, Doneda / Giana, Izzo / Manuela, Formica / Marco, Scarabello / Andrea, Accogli / Patrizia, Accorsi / Nadia, Bahi-Buisson / Valeria, Capra / Mara, Cavallin / Bernardo, Dalla Bernardina / Francesca, Darra / Valentina, De Giorgis / Elisa, Fazzi / Miguel, Fontanillas R L / Carlo, Fusco / Lucio, Giordano / Simona, Orcesi / Lorenzo, Pinelli /

Erika, Rebessi / Antonino, Romeo / Mariasavina, Severino / Carlotta, Spagnoli / Pierangelo, Veggiotti / Anna, Pichiecchio / Andrea, Righini / Cecilia, Parazzini

Neuropediatrics

2020 Volume 51, Issue 4, Page(s) 276–285

Abstract: Objective: This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis.: Methods: The iuMRI features of nine ...

Abstract	Objective: This study was aimed to investigate the prenatal findings in Aicardi syndrome (AIC) by intrauterine magnetic resonance imaging (iuMRI) suggesting possible diagnostic criteria and differential diagnosis. Methods: The iuMRI features of nine AIC confirmed cases were described and then compared with those of postnatal MRI. Furthermore, all iuMRI cases with both corpus callosum (CC) agenesis-dysgenesis and cortical malformation (AIC mimickers) were retrospectively reviewed and compared with iuMRI AIC cases, in order to identify possible neuroradiological predictors of AIC syndrome. For this purpose, Chi-square statistic and binary logistic regression analysis were performed. Results: In all AIC cases, iuMRI was able to detect CC agenesis-dysgenesis and cortical development anomalies. Postnatal MRI revealed some additional findings mainly including further cystic lesions and in two cases small coloboma. A statistically significant difference between AIC and AIC mimicker were found regarding sex, nodular heterotopias, posterior fossa abnormalities, coloboma, and cortical gyration abnormalities. The most predictive variables in the logistic regression model were cortical gyration abnormalities, coloboma, and sex. Conclusion: The iuMRI findings may suggest prenatal diagnosis of AIC syndrome with significant impact on parental counseling. Among possible differential diagnoses, tubulinopathies emerged.
MeSH term(s)	Aicardi Syndrome/diagnostic imaging ; Diagnosis, Differential ; Female ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development/diagnostic imaging ; Pregnancy ; Prenatal Diagnosis ; Retrospective Studies
Language	English
Publishing date	2020-07-03
Publishing country	Germany
Document type	Journal Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0040-1710528
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Article ; Online: MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu / Karthyayani Rajamani / Miranda S. C. Wilson / Daniel Medina-Cano / Nami Altin / Pierre David / Giulia Barcia / Nathalie Lefort / Céline Banal / Marie-Thérèse Vasilache-Dangles / Gaële Pitelet / Elsa Lorino / Nathalie Rabasse / Eric Bieth / Maha S. Zaki / Meral Topcu / Fatma Mujgan Sonmez / Damir Musaev / Valentina Stanley /

Christine Bole-Feysot / Patrick Nitschké / Arnold Munnich / Nadia Bahi-Buisson / Catherine Fossoud / Fabienne Giuliano / Laurence Colleaux / Lydie Burglen / Joseph G. Gleeson / Nathalie Boddaert / Adolfo Saiardi / Vincent Cantagrel

Nature Communications, Vol 11, Iss 1, Pp 1-

2020 Volume 16

Abstract: Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular ... ...

Abstract	Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellular imbalance of inositol polyphosphate metabolism.
Keywords	Science ; Q
Language	English
Publishing date	2020-11-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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