The Role of Preclinical Models in Creatine Transporter Deficiency: Neurobiological Mechanisms, Biomarkers and Therapeutic Development.

Animals Biomarkers / metabolism Brain Diseases, Metabolic, Inborn / metabolism Central Nervous System / pathology Creatine / deficiency Disease Models, Animal Humans Mental Retardation, X-Linked / metabolism Mice Plasma Membrane Neurotransmitter Transport Proteins / deficiency Rats
animal models autism creatine creatine transporter deficiency epilepsy intellectual disability metabolic disorders metabolism

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
24 07 2021
Historique:
received: 22 06 2021
revised: 22 07 2021
accepted: 23 07 2021
entrez: 27 8 2021
pubmed: 28 8 2021
medline: 12 2 2022
Statut: epublish

Résumé

Creatine (Cr) Transporter Deficiency (CTD) is an X-linked metabolic disorder, mostly caused by missense mutations in the

Identifiants

DOI: 10.3390/genes12081123 PMID: 34440297 PMC: PMC8392480
pubmed: 34440297
pii: genes12081123
doi: 10.3390/genes12081123
pmc: PMC8392480
pii:
doi:

Substances chimiques

Biomarkers 0
Plasma Membrane Neurotransmitter Transport Proteins 0
Creatine MU72812GK0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Review

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Elsa Ghirardini (E)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, I-56128 Pisa, Italy.
Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.

Francesco Calugi (F)

Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, I-50135 Florence, Italy.

Giulia Sagona (G)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, I-56128 Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, I-50135 Florence, Italy.
ORCID: 0000-0002-4788-809X

Federica Di Vetta (F)

Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.
Department of Biology, University of Pisa, I-56126 Pisa, Italy.

Martina Palma (M)

Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, I-50135 Florence, Italy.

Roberta Battini (R)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, I-56128 Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, I-56126 Pisa, Italy.

Giovanni Cioni (G)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, I-56128 Pisa, Italy.
Department of Clinical and Experimental Medicine, University of Pisa, I-56126 Pisa, Italy.

Tommaso Pizzorusso (T)

Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.
Department of Neuroscience, Psychology, Drug Research and Child Health NEUROFARBA, University of Florence, I-50135 Florence, Italy.
ORCID: 0000-0001-5614-0668

Laura Baroncelli (L)

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, I-56128 Pisa, Italy.
Institute of Neuroscience, National Research Council (CNR), I-56124 Pisa, Italy.
ORCID: 0000-0001-6739-2860

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Maladies métaboliques et nutritionnelles › Maladies métaboliques › Erreurs innées du métabolisme › Encéphalopathies métaboliques congénitales › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Système nerveux › Système nerveux central › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Créatine › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies neurodégénératives héréditaires › Retard mental lié à l'X › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Protéines de transport membranaire › Transporteurs de neurotransmetteurs › Transporteurs plasmiques de neurotransmetteurs › The Role of Preclinical Models in Creatine...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Rats › The Role of Preclinical Models in Creatine...