Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts

D Cotán, MD Cordero, J Garrido‐Maraver… - The FASEB …, 2011 - Wiley Online Library
Mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS) is a
mitochondrial disease most usually caused by point mutations in tRNA genes encoded by …

Mitochondrial mutations: newly discovered players in neuronal degeneration

NZ Lax, DM Turnbull, AK Reeve - The Neuroscientist, 2011 - journals.sagepub.com
Mutations in mitochondrial DNA cause a number of neurological diseases with defined
neuropathology; however, mutations in this genome have also been found to be important in …

Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice

S Sato, S Noda, S Torii, T Amo, A Ikeda… - Human molecular …, 2021 - academic.oup.com
Inactivation of constitutive autophagy results in the formation of cytoplasmic inclusions in
neurones, but the relationship between impaired autophagy and Lewy bodies (LBs) remains …

[HTML][HTML] Pathogenesis and treatment of mitochondrial myopathies: recent advances

S Di Mauro - Acta Myologica, 2010 - ncbi.nlm.nih.gov
In this brief review, I have highlighted recent advances in several areas of mitochondrial
medicine, including mtDNA-related diseases, mendelian mitochondrial …

The R941L mutation in MYH14 disrupts mitochondrial fission and associates with peripheral neuropathy

W Almutawa, C Smith, R Sabouny, RB Smit, T Zhao… - …, 2019 - thelancet.com
Background Peripheral neuropathies are often caused by disruption of genes responsible
for myelination or axonal transport. In particular, impairment in mitochondrial fission and …

Late onset motoneuron disorder caused by mitochondrial Hsp60 chaperone deficiency in mice

R Magnoni, J Palmfeldt, JH Christensen, M Sand… - Neurobiology of …, 2013 - Elsevier
Cells rely on efficient protein quality control systems (PQCs) to maintain proper activity of
mitochondrial proteins. As part of this system, the mitochondrial chaperone Hsp60 assists …

Mitochondrial dysfunction in Parkinson's disease: focus on mitochondrial DNA

O Buneeva, V Fedchenko, A Kopylov, A Medvedev - Biomedicines, 2020 - mdpi.com
Mitochondria, the energy stations of the cell, are the only extranuclear organelles, containing
their own (mitochondrial) DNA (mtDNA) and the protein synthesizing machinery. The …

Defective mitochondrial dynamics is an early event in skeletal muscle of an amyotrophic lateral sclerosis mouse model

G Luo, J Yi, C Ma, Y Xiao, F Yi, T Yu, J Zhou - PloS one, 2013 - journals.plos.org
Mitochondria are dynamic organelles that constantly undergo fusion and fission to maintain
their normal functionality. Impairment of mitochondrial dynamics is implicated in various …

Insights on altered mitochondrial function and dynamics in the pathogenesis of neurodegeneration

J McInnes - Translational neurodegeneration, 2013 - Springer
In neurons, mitochondria are enriched to provide energy and calcium buffering required for
synaptic transmission. Additionally, mitochondria localize to the synapse, where they are …

Progressive loss of striatal neurons causes motor dysfunction in MND2 mutant mice and is not prevented by Bcl-2

S Rathke-Hartlieb, U Schlomann, P Heimann… - Experimental …, 2002 - Elsevier
The mouse mutant “motoneuron disease 2”(MND2, mnd2 on Chr 6) was originally
characterized as a spinal muscular atrophy (SMA) because degenerating motoneurons …