Publications related to An Updated Inventory of Genes Essential for Oxidative Phosphorylation Identifies a Mitochondrial Origin in Familial Me<acute Accent>nie`re's Disease

Related publications (10)

Structural characterization of Prolyl endopeptidase-like, a mitochondrial protein involved in congenital myasthenic syndrome-22

Matteo Dal Peraro, Maria Josefina Marcaida Lopez, Anastasia Theodoropoulou, Edoardo Cavani

SPRINGER2023

Mitofusin-2 in nucleus accumbens D2-MSNs regulates social dominance and neuronal function

Maria del Carmen Sandi Perez, Bernard Schneider, Olivia Zanoletti, Simone Astori, Jocelin Grosse, Marie-Isabelle Guillot de Suduiraut, Eva Ramos Fernandez, Elias Georges Gebara, Alessandro Chioino, Sriparna Ghosal

The nucleus accumbens (NAc) is a brain hub regulating motivated behaviors, including social competitiveness. Mitochondrial function in the NAc links anxiety with social competitiveness, and the mitochondrial fusion protein mitofusin 2 (Mfn2) in NAc neurons ...

2023

Urolithin A improves muscle strength, exercise performance, and biomarkers of mitochondrial health in a randomized trial in middle-aged adults

Johan Auwerx, Patrick Aebischer, Pénélope Andreux

Targeting mitophagy to activate the recycling of faulty mitochondria during aging is a strategy to mitigate muscle decline. We present results from a randomized, placebo-controlled trial in middle-aged adults where we administer a postbiotic compound Uroli ...

2022

Hypoxia Conditioning as a Promising Therapeutic Target in Parkinson's Disease?

Hilal Lashuel, Grégoire Millet, Johannes Burtscher, Muhammed Muazzam Kamil Syed

Several lines of research point to a key role of low oxygen supply (hypoxia) in Parkinson's disease pathogenesis. Although severe hypoxia is detrimental for the brain, physiological adaptations to mild hypoxia are neuroprotective. Herein we discuss, how ne ...

WILEY2021

Nicotinamide riboside supplementation alters body composition and skeletal muscle acetylcarnitine concentrations in healthy obese humans

Johan Auwerx, Richardus Houtkooper

Background: Nicotinamide riboside (NR) is an NAD(+) precursor that boosts cellular NAD(+) concentrations. Preclinical studies have shown profound metabolic health effects after NR supplementation. ...

OXFORD UNIV PRESS2020

Gene replacement therapy provides benefit in an adult mouse model of Leigh syndrome

Johan Auwerx, Giorgia Benegiamo

Mutations in nuclear-encoded mitochondrial genes are responsible for a broad spectrum of disorders among which Leigh syndrome is the most common in infancy. No effective therapies are available for this severe disease mainly because of the limited capabili ...

2020

A reduced form of nicotinamide riboside defines a new path for NAD(+) biosynthesis and acts as an orally bioavailable NAD(+) precursor

Richardus Houtkooper, Carlos Canto Alvarez

Objective: A decay in intracellular NAD(+) levels is one of the hallmarks of physiological decline in normal tissue functions. Accordingly, dietary supplementation with NAD(+) precursors can prevent, alleviate, or even reverse multiple metabolic complicati ...

2019

The phenotypic impact of naturally occurring genetic and molecular mitochondrial variation in a Drosophila Genetic Reference Population

Roel Paulus Josephus Bevers

Genome-wide association (GWA) studies aim to dissect the relationship between genotype and phenotype. So far, the focus has been on nuclear genetic determinants as variation in the mitochondrial genome is often low in the study cohorts. Despite this observ ...

EPFL2018

Modulation of AMPK's activity via genetic tools and food-derived compounds as a novel approach to Parkinson's disease treatment

Wojciech Janusz Bobela

Aging is considered as a major risk factor for Parkinsonâ s disease (PD) and can be defined as a gradual decline in the ability of biological systems to efficiently renew structural and functional components, which may lead to perturbations in energetic h ...

EPFL2016

Alpha-Synuclein as a Mediator in the Interplay between Aging and Parkinson's Disease

Patrick Aebischer, Bernard Schneider, Wojciech Janusz Bobela

Accumulation and misfolding of the alpha-synuclein protein are core mechanisms in the pathogenesis of Parkinson's disease. While the normal function of alpha-synuclein is mainly related to the control of vesicular neurotransmission, its pathogenic effects ...

Mdpi Ag2015