Search Results - "Colleaux, Laurence"

The emerging roles of MicroRNAs in autism spectrum disorders by Fregeac, Julien, Colleaux, Laurence, Nguyen, Lam Son

“…•microRNAs (miRNAs) have important roles in development and function of the brain.•Mutations of miRNA genes are associated with autism spectrum disorders…”
Get full text

NONO Detects the Nuclear HIV Capsid to Promote cGAS-Mediated Innate Immune Activation by Lahaye, Xavier, Gentili, Matteo, Silvin, Aymeric, Conrad, Cécile, Picard, Léa, Jouve, Mabel, Zueva, Elina, Maurin, Mathieu, Nadalin, Francesca, Knott, Gavin J., Zhao, Baoyu, Du, Fenglei, Rio, Marlène, Amiel, Jeanne, Fox, Archa H., Li, Pingwei, Etienne, Lucie, Bond, Charles S., Colleaux, Laurence, Manel, Nicolas

“…Detection of viruses by innate immune sensors induces protective antiviral immunity. The viral DNA sensor cyclic GMP-AMP synthase (cGAS) is necessary for…”
Get full text

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy by Barcia, Giulia, Fleming, Matthew R, Deligniere, Aline, Gazula, Valeswara-Rao, Brown, Maile R, Langouet, Maeva, Chen, Haijun, Kronengold, Jack, Abhyankar, Avinash, Cilio, Roberta, Nitschke, Patrick, Kaminska, Anna, Boddaert, Nathalie, Casanova, Jean-Laurent, Desguerre, Isabelle, Munnich, Arnold, Dulac, Olivier, Kaczmarek, Leonard K, Colleaux, Laurence, Nabbout, Rima

“…Rima Nabbout and colleagues report the identification of de novo mutations in the KCNT1 potassium channel gene in individuals with malignant migrating partial…”
Get full text

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect by Medina-Cano, Daniel, Ucuncu, Ekin, Nguyen, Lam Son, Nicouleau, Michael, Lipecka, Joanna, Bizot, Jean-Charles, Thiel, Christian, Foulquier, François, Lefort, Nathalie, Faivre-Sarrailh, Catherine, Colleaux, Laurence, Guerrera, Ida Chiara, Cantagrel, Vincent

“…Proper brain development relies highly on protein N-glycosylation to sustain neuronal migration, axon guidance and synaptic physiology. Impairing the…”
Get full text

Loss of the neurodevelopmental disease-associated gene miR-146a impairs neural progenitor differentiation and causes learning and memory deficits by Fregeac, Julien, Moriceau, Stéphanie, Poli, Antoine, Nguyen, Lam Son, Oury, Franck, Colleaux, Laurence

“…Formation and maintenance of appropriate neural networks require tight regulation of neural stem cell proliferation, differentiation, and neurogenesis…”
Get full text

Loss-of-Function Mutation in the Dioxygenase-Encoding FTO Gene Causes Severe Growth Retardation and Multiple Malformations by Boissel, Sarah, Reish, Orit, Proulx, Karine, Kawagoe-Takaki, Hiroko, Sedgwick, Barbara, Yeo, Giles S.H., Meyre, David, Golzio, Christelle, Molinari, Florence, Kadhom, Noman, Etchevers, Heather C., Saudek, Vladimir, Farooqi, I. Sadaf, Froguel, Philippe, Lindahl, Tomas, O'Rahilly, Stephen, Munnich, Arnold, Colleaux, Laurence

“…FTO is a nuclear protein belonging to the AlkB-related non-haem iron- and 2-oxoglutarate-dependent dioxygenase family. Although polymorphisms within the first…”
Get full text

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia by Ucuncu, Ekin, Rajamani, Karthyayani, Wilson, Miranda S. C., Medina-Cano, Daniel, Altin, Nami, David, Pierre, Barcia, Giulia, Lefort, Nathalie, Banal, Céline, Vasilache-Dangles, Marie-Thérèse, Pitelet, Gaële, Lorino, Elsa, Rabasse, Nathalie, Bieth, Eric, Zaki, Maha S., Topcu, Meral, Sonmez, Fatma Mujgan, Musaev, Damir, Stanley, Valentina, Bole-Feysot, Christine, Nitschké, Patrick, Munnich, Arnold, Bahi-Buisson, Nadia, Fossoud, Catherine, Giuliano, Fabienne, Colleaux, Laurence, Burglen, Lydie, Gleeson, Joseph G., Boddaert, Nathalie, Saiardi, Adolfo, Cantagrel, Vincent

“…Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol…”
Get full text

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability by Brechet, Aline, Buchert, Rebecca, Schwenk, Jochen, Boudkkazi, Sami, Zolles, Gerd, Siquier-Pernet, Karine, Schaber, Irene, Bildl, Wolfgang, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Reis, Andre, Sticht, Heinrich, Al-Sanna’a, Nouriya, Rolfs, Arndt, Kulik, Akos, Schulte, Uwe, Colleaux, Laurence, Abou Jamra, Rami, Fakler, Bernd

“…AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular…”
Get full text

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature by JAMRA, Rami Abou, PHILIPPE, Orianne, MUNNICH, Arnold, STROM, Tim M, REIS, Andre, COLLEAUX, Laurence, RAAS-ROTHSCHILD, Annick, ECK, Sebastian H, GRAF, Elisabeth, BUCHERT, Rebecca, BORCK, Guntram, EKICI, Arif, BROCKSCHMIDT, Felix F, NÖTHEN, Markus M

“…Intellectual disability inherited in an autosomal-recessive fashion represents an important fraction of severe cognitive-dysfunction disorders. Yet, the…”
Get full text

INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex by Mascibroda, Lauren G., Shboul, Mohammad, Elrod, Nathan D., Colleaux, Laurence, Hamamy, Hanan, Huang, Kai-Lieh, Peart, Natoya, Singh, Moirangthem Kiran, Lee, Hane, Merriman, Barry, Jodoin, Jeanne N., Sitaram, Poojitha, Lee, Laura A., Fathalla, Raja, Al-Rawashdeh, Baeth, Ababneh, Osama, El-Khateeb, Mohammad, Escande-Beillard, Nathalie, Nelson, Stanley F., Wu, Yixuan, Tong, Liang, Kenney, Linda J., Roy, Sudipto, Russell, William K., Amiel, Jeanne, Reversade, Bruno, Wagner, Eric J.

“…Oral-facial-digital (OFD) syndromes are a heterogeneous group of congenital disorders characterized by malformations of the face and oral cavity, and digit…”
Get full text

Role of miR-146a in neural stem cell differentiation and neural lineage determination: relevance for neurodevelopmental disorders by Nguyen, Lam Son, Fregeac, Julien, Bole-Feysot, Christine, Cagnard, Nicolas, Iyer, Anand, Anink, Jasper, Aronica, Eleonora, Alibeu, Olivier, Nitschke, Patrick, Colleaux, Laurence

“…MicroRNAs (miRNAs) are small, non-coding RNAs that regulate gene expression at the post-transcriptional level. miRNAs have emerged as important modulators of…”
Get full text

Inhibition of poly(ADP-Ribosyl)ation reduced vascular smooth muscle cells loss and improves aortic disease in a mouse model of human accelerated aging syndrome by Cardoso, Déborah, Guilbert, Solenn, Guigue, Philippe, Carabalona, Aurélie, Harhouri, Karim, Peccate, Cécile, Tournois, Johana, Guesmia, Zoheir, Ferreira, Lino, Bartoli, Catherine, Levy, Nicolas, Colleaux, Laurence, Nissan, Xavier, Muchir, Antoine

“…Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder associated with features of accelerated aging. HGPS is an autosomal dominant…”
Get full text

Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs by Baylot, Virginie, Le, Thi Khanh, Taïeb, David, Rocchi, Palma, Colleaux, Laurence

“…Rare diseases (RD) affect a small number of people compared to the general population and are mostly genetic in origin. The first clinical signs often appear…”
Get full text

Human slack potassium channel mutations increase positive cooperativity between individual channels by Kim, Grace E, Kronengold, Jack, Barcia, Giulia, Quraishi, Imran H, Martin, Hilary C, Blair, Edward, Taylor, Jenny C, Dulac, Olivier, Colleaux, Laurence, Nabbout, Rima, Kaczmarek, Leonard K

“…Disease-causing mutations in ion channels generally alter intrinsic gating properties such as activation, inactivation, and voltage dependence. We examined…”
Get full text

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures by Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N., Ville, Dorothée, Dulac, Olivier, Yu, Tim W., Lam, Anh-Thu N., Servattalab, Sarah, Rodriguez, Jacqueline, Boddaert, Nathalie, Munnich, Arnold, Colleaux, Laurence, Zon, Leonard I., Söll, Dieter, Walsh, Christopher A., Nabbout, Rima

“…Progressive microcephaly is a heterogeneous condition with causes including mutations in genes encoding regulators of neuronal survival. Here, we report the…”
Get full text

Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome by Malan, Valérie, Rajan, Diana, Thomas, Sophie, Shaw, Adam C., Louis dit Picard, Hélène, Layet, Valérie, Till, Marianne, van Haeringen, Arie, Mortier, Geert, Nampoothiri, Sheela, Pušeljić, Silvija, Legeai-Mallet, Laurence, Carter, Nigel P., Vekemans, Michel, Munnich, Arnold, Hennekam, Raoul C., Colleaux, Laurence, Cormier-Daire, Valérie

“…By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X ( NFIX) deletions or nonsense…”
Get full text

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation by Molinari, Florence, Foulquier, François, Tarpey, Patrick S., Morelle, Willy, Boissel, Sarah, Teague, Jon, Edkins, Sarah, Futreal, P. Andrew, Stratton, Michael R., Turner, Gillian, Matthijs, Gert, Gecz, Jozef, Munnich, Arnold, Colleaux, Laurence

“…Mental retardation (MR) is the most frequent handicap among children and young adults. Although a large proportion of X-linked MR genes have been identified,…”
Get full text

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination by Enervald, Elin, Du, Likun, Visnes, Torkild, Björkman, Andrea, Lindgren, Emma, Wincent, Josephine, Borck, Guntram, Colleaux, Laurence, Cormier-Daire, Valerie, van Gent, Dik C, Pie, Juan, Puisac, Beatriz, de Miranda, Noel Fcc, Kracker, Sven, Hammarström, Lennart, de Villartay, Jean-Pierre, Durandy, Anne, Schoumans, Jacqueline, Ström, Lena, Pan-Hammarström, Qiang

“…DNA double strand breaks (DSBs) are mainly repaired via homologous recombination (HR) or nonhomologous end joining (NHEJ). These breaks pose severe threats to…”
Get full text

Impaired Mitochondrial Glutamate Transport in Autosomal Recessive Neonatal Myoclonic Epilepsy by Molinari, Florence, Raas-Rothschild, Annick, Rio, Marlène, Fiermonte, Giuseppe, Encha-Razavi, Ferechté, Palmieri, Luigi, Palmieri, Ferdinando, Ben-Neriah, Ziva, Kadhom, Noman, Vekemans, Michel, Attié-Bitach, Tania, Munnich, Arnold, Rustin, Pierre, Colleaux, Laurence

“…Severe neonatal epilepsies with suppression-burst pattern are epileptic syndromes with either neonatal onset or onset during the first months of life. These…”
Get full text

Paradoxical NSD1 Mutations in Beckwith-Wiedemann Syndrome and 11p15 Anomalies in Sotos Syndrome by Baujat, Geneviève, Rio, Marlène, Rossignol, Sylvie, Sanlaville, Damien, Lyonnet, Stanislas, Le Merrer, Martine, Munnich, Arnold, Gicquel, Christine, Cormier-Daire, Valérie, Colleaux, Laurence

“…Sotos syndrome is an overgrowth syndrome characterized by pre- and postnatal overgrowth, macrocephaly, advanced bone age, variable degrees of mental…”
Get full text