Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome-Reference-Cited by-同舟云学术

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Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome

Published:2017-07 Issue: Volume:35 Page:54-58
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Yoo Da Hye,Choi Young-Chul,Nam Da Eun,Choi Sun Seong,Kim Ji Won,Choi Byung-Ok,Chung Ki Wha

Funder

Kongju National University

Ministry of Health & Welfare

National Research Foundation

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

Reference20 articles.

1. Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability;Antoniadi;BMC Med. Genet.,2015

2. Next-generation sequencing for mitochondrial disorders;Carroll;Br. J. Pharmacol.,2014

3. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients;Corona;Ann. Neurol.,2001

4. Fas activated serine-threonine kinase domains 2 (FASTKD2) mediates apoptosis of breast and prostate cancer cells through its novel FAST2 domain;Das;BMC Cancer,2014

5. FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency;Ghezzi;Am. J. Hum. Genet.,2008

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1. Biomolecular condensates and disease pathogenesis;Science China Life Sciences;2024-07-17

2. Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy;American Journal of Kidney Diseases;2024-07

3. Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing;Frontiers in Genetics;2024-01-12

4. A rare case of isolated IBM — HNRNPA2B1associated myopathy with inclusion bodies;Clinical Medicine (Russian Journal);2023-06-01

5. MELAS: Phenotype Classification into Classic-versus-Atypical Presentations;American Journal of Neuroradiology;2023-04-06

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