Publications

24 September 2024

New publication : Monitoring mitochondrial localization of dual localized proteins using a Bi-Genomic Mitochondrial-Split-GFP

Autors : Solène Zuttion, Bruno Senger, Chiranjit Panja, Sylvie Friant, Róża Kucharczyk and Hubert Dominique Becker Photo : ©Jaime-Olivares

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10 August 2020

Publication Equipes Bahram, Friant et collaborateurs.

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,…

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20 July 2020

Publication équipe Friant et collaborateur

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…

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20 July 2020

Publication Equipe Becker, Friant et collaborateurs

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…

22 February 2022

Publication Equipe Bahram et Equipe Friant

A Homozygous Missense Variant in PPP1R1B/DARPP-32 Is Associated With Generalized Complex Dystonia.

20 July 2020

Publication équipe Friant et collaborateurs

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…

20 July 2020

Publication équipe Friant et collaborateurs

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

20 July 2020

Publication Equipe Friant et collaborateurs

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 ,…

11 March 2020

Equipe Friant : Yeast as a Model to Understand Actin-Mediated Cellular Functions in Mammals Cells 2020

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;…

4 June 2019

Equipe Friant Publication KARS

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…