Mitochondrial myopathy with autophagic vacuoles in patients with the m.8344A>G mutation

A new phenotype of mitochondrial disease characterized by familial late-onset predominant axial myopathy and encephalopathy

(2011) Yusuke Sakiyama et al.   ACTA NEUROPATHOLOGICA

Second generation sequencing allows for mtDNA mixture deconvolution and high resolution detection of heteroplasmy

(2011) Mitchell M. Holland et al.   CROATIAN MEDICAL JOURNAL

Decreased heat shock protein 27 expression and altered autophagy in human cells harboring A8344G mitochondrial DNA mutation

(2011) Chin-Yi Chen et al.   MITOCHONDRION

Detecting Heteroplasmy from High-Throughput Sequencing of Complete Human Mitochondrial DNA Genomes

(2010) Mingkun Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Characterization of mitochondrial DNA heteroplasmy using a parallel sequencing system

(2010) Sha Tang et al.   BIOTECHNIQUES

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

(2010) Sven Geisler et al.   NATURE CELL BIOLOGY

What can mitochondrial heterogeneity tell us about mitochondrial dynamics and autophagy?

(2009) Jakob D. Wikstrom et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders

(2009) M. J. Molnar et al.   JOURNAL OF NEUROLOGY

Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys

(2009) I. Erol et al.   NEUROMUSCULAR DISORDERS