Disturbed mitochondrial dynamics and neurodegenerative disorders

F Burté, V Carelli, PF Chinnery… - Nature reviews …, 2015 - nature.com
Mitochondria form a highly interconnected tubular network throughout the cell via a dynamic
process, with mitochondrial segments fusing and breaking apart continuously. Strong …

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

AJ Abrams, RB Hufnagel, A Rebelo, C Zanna, N Patel… - Nature …, 2015 - nature.com
Dominant optic atrophy (DOA), and axonal peripheral neuropathy (Charcot-Marie-Tooth type
2, or CMT2) are hereditary neurodegenerative disorders most commonly caused by …

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

V Carelli, O Musumeci, L Caporali, C Zanna… - Annals of …, 2015 - Wiley Online Library
Objective Mounting evidence links neurodegenerative disorders such as Parkinson disease
and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on …

[HTML][HTML] Mitochondrial dynamics and heart failure

AA Knowlton, TT Liu - Comprehensive Physiology, 2015 - ncbi.nlm.nih.gov
Mitochondrial dynamics, fission and fusion, were first identified in yeast with investigation in
heart cells beginning only in the last 5–7 years. In the ensuing time it has become evident …

[HTML][HTML] Nuclear expression of mitochondrial ND4 leads to the protein assembling in complex I and prevents optic atrophy and visual loss

H Cwerman-Thibault, S Augustin, C Lechauve… - … Therapy Methods & …, 2015 - cell.com
Leber hereditary optic neuropathy is due to mitochondrial DNA mutations; in∼ 70% of all
cases, a point mutation in the mitochondrial NADH dehydrogenase subunit 4, ND4, gene …

[HTML][HTML] Resistance of dynamin-related protein 1 oligomers to disassembly impairs mitophagy, resulting in myocardial inflammation and heart failure

TJ Cahill, V Leo, M Kelly, A Stockenhuber… - Journal of Biological …, 2015 - ASBMB
We have reported previously that a missense mutation in the mitochondrial fission gene
Dynamin-related protein 1 (Drp1) underlies the Python mouse model of monogenic dilated …

Orexin system is expressed in avian muscle cells and regulates mitochondrial dynamics

K Lassiter, E Greene, A Piekarski… - American Journal …, 2015 - journals.physiology.org
Orexin A and B, orexigenic peptides produced primarily by the lateral hypothalamus that
signal through two G protein-coupled receptors, orexin receptors 1/2, have been implicated …

Mitochondrial complex I deficiency leads to inflammation and retinal ganglion cell death in the Ndufs4 mouse

AK Yu, L Song, KD Murray, D van der List… - Human molecular …, 2015 - academic.oup.com
Mitochondrial complex I (NADH dehydrogenase) is a major contributor to neuronal
energetics, and mutations in complex I lead to vision loss. Functional, neuroanatomical and …

'Behr syndrome' with OPA1 compound heterozygote mutations

V Carelli, M Sabatelli, R Carrozzo, T Rizza, S Schimpf… - Brain, 2015 - academic.oup.com
Sir, We have been following with great interest the developments in the field of phenotypic
diversity associated with mutations in the OPA1 gene, having contributed to describe the …

AIF inhibits tumor metastasis by protecting PTEN from oxidation

SM Shen, M Guo, Z Xiong, Y Yu, XY Zhao, FF Zhang… - EMBO …, 2015 - embopress.org
Apoptosis‐inducing factor (AIF) exerts dual roles on cell death and survival, but its
substrates as a putative oxidoreductase and roles in tumorigenesis remain elusive. Here, we …