Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT Deficiency

Guanidinoacetate methyltransferase deficiency (GAMT-D) is one of three cerebral creatine (Cr) deficiency syndromes due to pathogenic variants in the GAMT gene (19p13.3). GAMT-D is characterized by the accumulation of guanidinoacetic acid (GAA) and the depletion of Cr, which result in severe global d...

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Bibliographic Details
Main Authors: Luigia Rossi, Francesca Nardecchia, Francesca Pierigè, Rossella Ventura, Claudia Carducci, Vincenzo Leuzzi, Mauro Magnani, Simona Cabib, Tiziana Pascucci
Format: Article
Language:English
Published: MDPI AG 2021-08-01
Series:Genes
Subjects:
GAMT deficiency
genetic mouse model
behavioral phenotyping
developmental delay
Online Access:https://www.mdpi.com/2073-4425/12/8/1201

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https://www.mdpi.com/2073-4425/12/8/1201

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