TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism-Reference-Cited by-同舟云学术

TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism

Published:2019-07-24 Issue:5 Volume:42 Page:898-908
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Jennions Elizabeth¹^ORCID,Hedberg‐Oldfors Carola²,Berglund Anna‐Karin³⁴,Kollberg Gittan³,Törnhage Carl‐Johan¹⁵,Eklund Erik A.⁶,Oldfors Anders²,Verloo Patrick⁷,Vanlander Arnaud V.⁷,De Meirleir Linda⁸,Seneca Sara⁹,Sterky Fredrik H.³⁴,Darin Niklas¹

Affiliation:

1. Department of Paediatrics, Institute of Clinical SciencesSahlgrenska Academy at University of Gothenburg Gothenburg Sweden

2. Department of Pathology and Genetics, Institute of BiomedicineUniversity of Gothenburg Gothenburg Sweden

3. Department of Clinical Chemistry and Transfusion Medicine, Institute of BiomedicineUniversity of Gothenburg Gothenburg Sweden

4. Wallenberg Centre for Molecular and Translational MedicineUniversity of Gothenburg Gothenburg Sweden

5. Department of PaediatricsSkaraborg hospital Skövde Sweden

6. Department of Clinical Sciences, Section for PaediatricsLund University Lund Sweden

7. Department of Internal Medicine and Paediatrics, Division of Paediatric Neurology and MetabolismGhent University Hospital Ghent Belgium

8. Department of Paediatric Neurology and Metabolic DiseasesUZ Brussel Brussels Belgium

9. Center for Medical GeneticsUniversity Hospital Brussels and Research Unit Genetics and Fertility, Vrije Universiteit Brussel Brussels Belgium

Funder

Västra Götalandsregionen

Vetenskapsrådet

Göteborgs Universitet

Knut och Alice Wallenbergs Stiftelse

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12149

Reference11 articles.

1. Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

2. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

3. Functional genomics reveals genes involved in protein secretion and Golgi organization

4. Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes

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2. Haem’s relevance genuine? Re-visiting the roles of TANGO2 homologues including HRG-9 and HRG-10 inC. elegans;2023-11-30

3. TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic Crisis;Pediatric Neurology;2023-10

4. Intrinsic and extrinsic regulation of rhabdomyolysis susceptibility by Tango2;Disease Models & Mechanisms;2023-09-01

5. Clinical phenotype associated with variants in TANGO2: A case study;Archives de Pédiatrie;2023-08