Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients-Reference-Cited by-同舟云学术

Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients

Published:2023-04 Issue:4 Volume:25 Page:100352
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Miyake Christina Y.^ORCID,Lay Erica J.,Soler-Alfonso Claudia,Glinton Kevin E.,Houck Kimberly M.,Tosur Mustafa,Moran Nancy E.,Stephens Sara B.,Scaglia Fernando,Howard Taylor S.,Kim Jeffrey J.,Pham Tam Dam,Valdes Santiago O.,Li Na,Murali Chaya N.,Zhang Lilei,Kava Maina,Yim Deane,Beach Cheyenne,Webster Gregory,Liberman Leonardo,Janson Christopher M.,Kannankeril Prince J.,Baxter Samantha,Singer-Berk Moriel,Wood Jordan,Mackenzie Samuel J.,Sacher Michael,Ghaloul-Gonzalez Lina,Pedroza Claudia,Morris Shaine A.,Ehsan Saad A.,Azamian Mahshid S.,Lalani Seema R.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Reference14 articles.

1. Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations;Lalani;Am J Hum Genet,2016

2. Bi-allelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy;Kremer;Am J Hum Genet,2016

3. TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism;Jennions;J Inherit Metab Dis,2019

4. The phenotype associated with variants in TANGO2 may be explained by a dual role of the protein in ER-to-Golgi transport and at the mitochondria;Milev;J Inherit Metab Dis,2021

5. Clinical presentation and proteomic signature of patients with TANGO2 mutations;Mingirulli;J Inherit Metab Dis,2020

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1. Cellular mechanisms of acute rhabdomyolysis in inherited metabolic diseases;Journal of Inherited Metabolic Disease;2024-08-12

2. Lipidomic analysis of human TANGO2-deficient cells suggests a lipid imbalance as a cause of TANGO2 deficiency disease;Biochemical and Biophysical Research Communications;2024-07

3. Folate as a potential treatment for lethal ventricular arrhythmias in TANGO2-deficiency disorder;JCI Insight;2024-06-10

4. Multicenter appraisal of comorbid TANGO2 deficiency disorder in patients with 22q11.2 deletion syndrome;American Journal of Medical Genetics Part A;2024-06-03

5. TANGO2 deficiency disorder is predominantly caused by a lipid imbalance;Disease Models & Mechanisms;2024-06-01