SLC25A42 ‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion-Reference-Cited by-同舟云学术

SLC25A42 ‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

Published:2021-05-04 Issue: Volume: Page:
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Aldosary Mazhor¹²,Baselm Shahad¹,Abdulrahim Maha¹,Almass Rawan¹²³,Alsagob Maysoon¹²⁴,AlMasseri Zainab³,Huma Rozeena³,AlQuait Laila¹²,Al‐Shidi Tarfa¹²,Al‐Obeid Eman¹,AlBakheet Albandary¹²,Alahideb Basma¹,Alahaidib Lujane¹,Qari Alya³,Taylor Robert W.⁵⁶,Colak Dilek⁷^ORCID,AlSayed Moeenaldeen D.³⁸,Kaya Namik¹²^ORCID

Affiliation:

1. Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

2. Translational Genomics Department, Center for Genomic Medicine (CGM) King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

3. Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

4. King Abdulaziz City for Science and Technology Riyadh Saudi Arabia

5. Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Newcastle University Newcastle upon Tyne UK

6. NHS Highly Specialised Mitochondrial Diagnostic Laboratory Newcastle upon Tyne Hospitals NHS Foundation Trust Newcastle upon Tyne UK

7. Department of Biostatistics, Epidemiology, and Scientific Computing King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

8. College of Medicine Alfaisal University Riyadh Saudi Arabia

Funder

King Abdulaziz City for Science and Technology

King Faisal Specialist Hospital and Research Centre

University of Kentucky

Wellcome Trust Centre for Mitochondrial Research

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jmd2.12218

Reference36 articles.

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4. Mitochondrial transporters of the SLC25 family and associated diseases: a review;Palmieri F;J Inherit Metab Dis,2014

5. A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme a and adenosine 3′,5′‐diphosphate in human mitochondria;Fiermonte G;J Biol Chem,2009

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