Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Author:

Pillai Nishitha R.12ORCID,Yubero Delia3,Shayota Brian J.12ORCID,Oyarzábal Alfonso4,Ghosh Rajarshi15,Sun Qin15,Azamian Mahshid S.12,Arjona Cesar3,Brandi Núria36,Palau Francesc37,Lalani Seema R.12,Artuch Rafael8,García‐Cazorla Angeles49,Scott Daryl A.1210ORCID

Affiliation:

1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas

2. Texas Children's Hospital Houston Texas

3. Department of Genetics and Molecular Medicine‐IPER, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII) Hospital Sant Joan de Déu Barcelona Spain

4. Laboratory of Synaptic Metabolism, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII) Hospital Sant Joan de Déu Barcelona Spain

5. Baylor Genetics Laboratory Houston Texas

6. School of Medicine Universitat de Barcelona Barcelona Spain

7. Division of Pediatrics University of Barcelona School of Medicine and Health Sciences, and Institute of Medicine and Dermatology, Hospital Clínic Barcelona Spain

8. Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER (ISCIII) Hospital Sant Joan de Déu Barcelona Spain

9. Neurometabolic Unit, Department of Neurology Institut de Recerca, Sant Joan de Déu metabERN and CIBERER (ISCIII), Hospital Sant Joan de Déu Barcelona Spain

10. Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston Texas

Funder

ACMG Foundation for Genetic and Genomic Medicine

European Regional Development Fund

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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