Monoallelic de novo

Animals Humans Neurotransmitter Agents / metabolism Mice Synapses / metabolism Synaptic Transmission Male Alleles Female Neurons / metabolism Loss of Function Mutation Epilepsy / metabolism Mice, Knockout Neuronal Plasticity Neurodevelopmental Disorders / metabolism

Journal

Science advances
ISSN: 2375-2548
Titre abrégé: Sci Adv
Pays: United States
ID NLM: 101653440

Informations de publication

Date de publication:
12 Jul 2024
Historique:
medline: 10 7 2024
pubmed: 10 7 2024
entrez: 10 7 2024
Statut: ppublish

Résumé

Adherens junction-associated protein 1 (AJAP1) has been implicated in brain diseases; however, a pathogenic mechanism has not been identified. AJAP1 is widely expressed in neurons and binds to γ-aminobutyric acid type B receptors (GBRs), which inhibit neurotransmitter release at most synapses in the brain. Here, we show that AJAP1 is selectively expressed in dendrites and trans-synaptically recruits GBRs to presynaptic sites of neurons expressing AJAP1. We have identified several monoallelic

Identifiants

DOI: 10.1126/sciadv.adk5462 PMID: 38985877
pubmed: 38985877
doi: 10.1126/sciadv.adk5462
doi:

Substances chimiques

Neurotransmitter Agents 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

eadk5462

Auteurs

Simon Früh (S)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0001-6804-5385

Sami Boudkkazi (S)

Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.

Peter Koppensteiner (P)

Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.
ORCID: 0000-0002-3509-1948

Vita Sereikaite (V)

Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.

Li-Yuan Chen (LY)

Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.
ORCID: 0000-0003-1037-6557

Diego Fernandez-Fernandez (D)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0003-1431-3705

Pascal D Rem (PD)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0009-0003-7732-2825

Daniel Ulrich (D)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.

Jochen Schwenk (J)

Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.
ORCID: 0000-0003-3664-9795

Ziyang Chen (Z)

Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.

Elodie Le Monnier (E)

Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.
ORCID: 0009-0004-2539-4373

Thorsten Fritzius (T)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0002-3597-6623

Sabrina M Innocenti (SM)

Biocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.

Valérie Besseyrias (V)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.

Luca Trovò (L)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0002-5864-3776

Michal Stawarski (M)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0002-9889-0085

Emanuela Argilli (E)

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
ORCID: 0000-0002-6575-7501

Elliott H Sherr (EH)

Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA.
ORCID: 0000-0002-4118-5385

Bregje van Bon (B)

Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.

Erik-Jan Kamsteeg (EJ)

Department of Human Genetics, Radboud University Medical Center, Nijmegen 6525, Netherlands.
ORCID: 0000-0001-6480-1892

Maria Iascone (M)

Laboratorio Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
ORCID: 0000-0002-4707-212X

Alba Pilotta (A)

UO Pediatria, Spedali Civili, Brescia, Italy.
ORCID: 0009-0000-9433-8878

Maria R Cutrì (MR)

UO Pediatria, Spedali Civili, Brescia, Italy.
ORCID: 0009-0001-8941-4298

Mahshid S Azamian (MS)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
ORCID: 0000-0002-8543-8284

Andrés Hernández-García (A)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Seema R Lalani (SR)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

Jill A Rosenfeld (JA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
ORCID: 0000-0001-5664-7987

Xiaonan Zhao (X)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Baylor Genetics, Houston, TX 77021, USA.
ORCID: 0000-0001-9941-8930

Tiphanie P Vogel (TP)

Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA.
ORCID: 0000-0002-0857-133X

Herda Ona (H)

Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Center for Human Immunobiology, Texas Children's Hospital, Houston, TX 77030, USA.

Daryl A Scott (DA)

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.
ORCID: 0000-0003-1460-5169

Peter Scheiffele (P)

Biocenter, University of Basel, Spitalstrasse 41, 4056 Basel, Switzerland.
ORCID: 0000-0002-9516-9399

Kristian Strømgaard (K)

Center for Biopharmaceuticals, Department of Drug Design and Pharmacology, University of Copenhagen, Universitetsparken 2, 2100 Copenhagen, Denmark.
ORCID: 0000-0003-2206-4737

Mehdi Tafti (M)

Department of Biomedical Sciences, Faculty of Biology and Medicine, University of Lausanne, Rue du Bugnon 7, 1005 Lausanne, Switzerland.
ORCID: 0000-0002-6997-3914

Martin Gassmann (M)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0001-6201-3032

Bernd Fakler (B)

Institute of Physiology II, University of Freiburg, Hermann-Herderstrasse 7, 79104 Freiburg, Germany.
ORCID: 0000-0001-7264-6423

Ryuichi Shigemoto (R)

Institute of Science and Technology Austria (IST Austria), Klosterneuburg, Austria.
ORCID: 0000-0001-8761-9444

Bernhard Bettler (B)

Department of Biomedicine, Pharmazentrum, University of Basel, Klingelbergstrasse 50, 4056 Basel, Switzerland.
ORCID: 0000-0003-0842-8207

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Monoallelic de novo
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Monoallelic de novo
questionsmedicales.fr › Actions chimiques et utilisations › Actions pharmacologiques › Effets physiologiques des médicaments › Agents neuromédiateurs › Monoallelic de novo
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Monoallelic de novo
questionsmedicales.fr › Cellules › Structures cellulaires › Membrane cellulaire › Structures de la membrane cellulaire › Jonctions intercellulaires › Synapses › Monoallelic de novo
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Transmission synaptique › Monoallelic de novo
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Monoallelic de novo
questionsmedicales.fr › Cellules › Neurones › Monoallelic de novo
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Monoallelic de novo
questionsmedicales.fr › Maladies du système nerveux › Maladies du système nerveux central › Encéphalopathies › Épilepsie › Monoallelic de novo
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Monoallelic de novo
questionsmedicales.fr › Phénomènes physiologiques de l'appareil locomoteur et du système nerveux › Phénomènes physiologiques du système nerveux › Plasticité neuronale › Monoallelic de novo
questionsmedicales.fr › Troubles mentaux › Troubles du développement neurologique › Monoallelic de novo