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GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Ung, Dévina C; Pietrancosta, Nicolas; Badillo, Elena Baz; Raux, Brigitt; Tapken, Daniel; Zlatanovic, Andjela; Doridant, Adrien; Pode-Shakked, Ben; Raas-Rothschild, Annick; Elpeleg, Orly; Abu-Libdeh, Bassam; Hamed, Nasrin; Papon, Marie-Amélie; Marouillat, Sylviane; Thépault, Rose-Anne; Stevanin, Giovanni; Elegheert, Jonathan; Letellier, Mathieu; Hollmann, Michael; Lambolez, Bertrand; Tricoire, Ludovic; Toutain, Annick; Hepp, Régine; Laumonnier, Frédéric.
Affiliation
  • Ung DC; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France.
  • Pietrancosta N; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France.
  • Badillo EB; Laboratoire des biomolécules, Département de chimie, École normale supérieure, PSL University, Sorbonne Université, CNRS, 75005, Paris, France.
  • Raux B; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France.
  • Tapken D; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France.
  • Zlatanovic A; Department of Biochemistry I - Receptor Biochemistry, Faculty of Chemistry and Biochemistry, Ruhr University Bochum, D-44780, Bochum, Germany.
  • Doridant A; Sorbonne Université, INSERM, CNRS, Neuroscience Paris Seine - Institut de Biologie Paris Seine, 75005, Paris, France.
  • Pode-Shakked B; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France.
  • Raas-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel.
  • Elpeleg O; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, 5262000, Israel.
  • Abu-Libdeh B; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.
  • Hamed N; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel.
  • Papon MA; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.
  • Marouillat S; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
  • Thépault RA; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Stevanin G; Department of Pediatrics, Makassed Hospital and Faculty of Medicine, Al-Quds University, East Jerusalem, Jerusalem, Palestine.
  • Elegheert J; Faculty of Medicine, Tel-Aviv University, Tel-Aviv, 69978, Israel.
  • Letellier M; Pediatric Neurology Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hahsomer, 5262000, Israel.
  • Hollmann M; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France.
  • Lambolez B; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France.
  • Tricoire L; UMR 1253, iBrain, Université de Tours, Inserm, 37032, Tours, France.
  • Toutain A; Univ. Bordeaux, INCIA, UMR 5287 CNRS EPHE, F-33000, Bordeaux, France.
  • Hepp R; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France.
  • Laumonnier F; Univ. Bordeaux, CNRS, IINS, UMR 5297, F-33000, Bordeaux, France.
Mol Psychiatry ; 29(4): 1205-1215, 2024 Apr.
Article in En | MEDLINE | ID: mdl-38418578
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synapses / Signal Transduction / Receptors, Metabotropic Glutamate / Intellectual Disability Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Mol Psychiatry Journal subject: BIOLOGIA MOLECULAR / PSIQUIATRIA Year: 2024 Document type: Article Affiliation country: France Country of publication: United kingdom
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Synapses / Signal Transduction / Receptors, Metabotropic Glutamate / Intellectual Disability Limits: Adolescent / Adult / Animals / Child / Female / Humans / Male Language: En Journal: Mol Psychiatry Journal subject: BIOLOGIA MOLECULAR / PSIQUIATRIA Year: 2024 Document type: Article Affiliation country: France Country of publication: United kingdom