Leigh syndrome: one disorder, more than 75 monogenic causes

NJ Lake, AG Compton, S Rahman… - Annals of …, 2016 - Wiley Online Library
Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This
neurodegenerative disorder is genetically heterogeneous, and to date pathogenic mutations …

Leigh syndrome: neuropathology and pathogenesis

NJ Lake, MJ Bird, P Isohanni… - … of Neuropathology & …, 2015 - academic.oup.com
Leigh syndrome (LS) is the most common pediatric presentation of a defined mitochondrial
disease. This progressive encephalopathy is characterized pathologically by the …

A cannabinoid link between mitochondria and memory

E Hebert-Chatelain, T Desprez, R Serrat, L Bellocchio… - Nature, 2016 - nature.com
Cellular activity in the brain depends on the high energetic support provided by
mitochondria, the cell organelles which use energy sources to generate ATP,,,. Acute …

Defective metabolic programming impairs early neuronal morphogenesis in neural cultures and an organoid model of Leigh syndrome

G Inak, A Rybak-Wolf, P Lisowski, TM Pentimalli… - Nature …, 2021 - nature.com
Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is
currently incurable. The lack of effective models hampers our understanding of the …

The different facets of organelle interplay—an overview of organelle interactions

M Schrader, LF Godinho, JL Costello… - Frontiers in cell and …, 2015 - frontiersin.org
Membrane-bound organelles such as mitochondria, peroxisomes, or the endoplasmic
reticulum (ER) create distinct environments to promote specific cellular tasks such as ATP …

Rapamycin rescues vascular, metabolic and learning deficits in apolipoprotein E4 transgenic mice with pre-symptomatic Alzheimer's disease

AL Lin, JB Jahrling, W Zhang… - Journal of Cerebral …, 2017 - journals.sagepub.com
Apolipoprotein E ɛ4 allele is a common susceptibility gene for late-onset Alzheimer's
disease. Brain vascular and metabolic deficits can occur in cognitively normal …

Age drives distortion of brain metabolic, vascular and cognitive functions, and the gut microbiome

JD Hoffman, I Parikh, SJ Green, G Chlipala… - Frontiers in Aging …, 2017 - frontiersin.org
Advancing age is the top risk factor for the development of neurodegenerative disorders,
including Alzheimer's disease (AD). However, the contribution of aging processes to AD …

Tissue‐ and Condition‐Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease

CA Sinkler, H Kalpage, J Shay, I Lee… - Oxidative medicine …, 2017 - Wiley Online Library
Cytochrome c oxidase (COX) is the terminal enzyme of the electron transport chain and
catalyzes the transfer of electrons from cytochrome c to oxygen. COX consists of 14 subunits …

Microcirculatory and mitochondrial hypoxia in sepsis, shock, and resuscitation

C Ince, EG Mik - Journal of applied physiology, 2016 - journals.physiology.org
After shock, persistent oxygen extraction deficit despite the apparent adequate recovery of
systemic hemodynamic and oxygen-derived variables has been a source of uncertainty and …

[HTML][HTML] Spaceflight induces oxidative damage to blood-brain barrier integrity in a mouse model

XW Mao, NC Nishiyama, SD Byrum… - … : official publication of …, 2020 - ncbi.nlm.nih.gov
Many factors contribute to the health risks encountered by astronauts on missions outside
Earth's atmosphere. Spaceflight-induced potential adverse neurovascular damage and late …