Autors : Solène Zuttion, Bruno Senger, Chiranjit Panja, Sylvie Friant, Róża Kucharczyk and Hubert Dominique Becker Photo : ©Jaime-Olivares
New publication : Cex1 is a component of the COPI intracellular trafficking machinery
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation Carla Noemi Castro , Michelle Rosenzwajg, Raphael Carapito, Mohammad Shahrooei, Martina Konantz , Amjad Khan , Zhichao Miao, Miriam Groß , Thibaud Tranchant , Mirjana Radosavljevic,…
Biallelic PDE2A variants: a new cause of syndromic paroxysmal dyskinesia Diane Doummar, Christel Dentel , Romane Lyautey , Julia Metreau , Boris Keren , Nathalie Drouot, Ludivine Malherbe , Viviane Bouilleret , Jérémie Courraud, Maria Paola Valenti-Hirsch , Lorella Minotti , Blandine…
Proteasome subunit PSMC variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress Ariane Kröll-Hermi, Frédéric Ebstein, Corinne Stoetzel, Véronique Geoffroy, Elise Schaefer, Sophie Scheidecker, Séverine Bär , Masanari Takamiya , Koichi Kawakami, Barbara A Zieba…
Assigning mitochondrial localization of dual localized proteins using a yeast Bi-Genomic Mitochondrial-Split-GFP, Gaétan Bader , Ludovic Enkler , Yuhei Araiso , Marine Hemmerle , Krystyna Binko , Emilia Baranowska , Johan-Owen De Craene , Julie Ruer-Laventie , Jean Pieters , Déborah…
Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals-Illustrated with Four Actin Cytoskeleton Proteins Zain Akram, Ishtiaq Ahmed, Heike Mack, Ramandeep Kaur, Richard C Silva, Beatriz A Castilho, Sylvie Friant, Evelyn Sattlegger, Alan L Munn
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140 Véronique Geoffroy , Corinne Stoetzel , Sophie Scheidecker, Elise Schaefer, Isabelle Perrault , Séverine Bär , Ariane Kröll , Marion Delbarre , Manuela Antin , Anne-Sophie Leuvrey ,…
Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals—Illustrated with Four Actin Cytoskeleton Proteins Zain Akram, Ishtiaq Ahmed, Heike Mack, Ramandeep Kaur, Richard C. Silva, Beatriz A. Castilho, Sylvie Friant, Evelyn Sattlegger and Alan L. Munn Cells 2020, 9(3), 672;…
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy. Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H. Hum…
A new SLC10A7 homozygous missense mutation responsible for a milder phenotype of skeletal dysplasia with Amelogenesis imperfecta. Publication dans le journal Frontiers in Genetics en collaboration avec la Faculté Dentaire et la Faculté de Médecine de Strasbourg, sur l'identification d'un nouveau…
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy. Sainio MT, Välipakka S, Rinaldi B, Lapatto H, Paetau A, Ojanen S, Brilhante V, Jokela M, Huovinen S, Auranen M, Palmio J, Friant S, Ylikallio E, Udd B, Tyynismaa H., J Neurol. 2018 Dec 4. Des variants…
Amphiphysin (BIN1) negatively regulates dynamin 2 for normal muscle maturation. Cowling BS, Prokic I, Tasfaout H, Rabai A, Humbert F, Rinaldi B, Nicot AS, Kretz C, Friant S, Roux A, Laporte J ; J Clin Invest. 2017 Nov 13
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy Meghna Kannan, Efil Bayam, Christel Wagner, Bruno Rinaldi, Perrine F. Kretz, Peggy Tilly, Marna Roos, Lara McGillewie, Séverine Bär, Shilpi Minocha, Claire Chevalier, Chrystelle Po, Sanger Mouse…
Le 13 octobre 2017 à 14H30 pièce 3013 à l'ICS (clinique de la souris à Illkirch) Matthieu RAESS nous présentera ses travaux de thèse : Deciphering the functional and molecular differences between MTM1 and MTMR2 to better understand two neuromuscular diseases.
Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy Matthieu A. Raess Belinda S. Cowling Dimitri L. Bertazzi Christine Kretz Bruno Rinaldi Jean-Marie Xuereb Pascal Kessler Norma B. Romero Bernard Payrastre Sylvie Friant. Human Molecular Genetics, ddx258, https://doi…
Sur le site web de l'Inserm : CILIOPATHIE : DECOUVERTE D'UN GENE IMPLIQUE DANS LA MALADIE Les équipes d'Hélène Dollfus (Inserm unité 1112/université de Strasbourg, Laboratoire de génétique…
Un lien entre la maladie de Batten et le transport vésiculaire établi grâce à la levure Site de l'INSB L’équipe de Sylvie Friant au Laboratoire de génétique moléculaire, génomique, microbiologie démontre que la maladie de Batten serait liée à un défaut dans le transport vésiculaire. Ces travaux…
Illustration : © Lauriane Kuhn (Plateforme Protéomique Strasbourg-Esplanade, IBMC) A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi Corinne Stoetze, Séverine Bär, Johan-Owen De Craene, Sophie Scheidecker, Christelle Etard, Johana Chicher, Jennifer R.…
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization Gina L. O’Grady, Heather A. Best, Tamar E. Sztal, Vanessa Schartner, Myriam Sanjuan-Vazquez, Sandra Donkervoort, Osorio Abath Neto, Roger Bryan Sutton, Biljana Ilkovski, Norma…
