Publications associées à Génome mitochondrial

Live Birth of a Healthy Child in a Couple with Identical mtDNA Carrying a Pathogenic c.471_477delTTTAAAAinsG Variant in the MOCS2 Gene

Valeriia Timonina, Konstantin Popadin

Molybdenum cofactor deficiency type B (MOCODB; #252160) is an autosomal recessive metabolic disorder that has only been described in 37 affected patients. In this report, we describe the presence of an in-frame homozygous variant (c.471_477delTTTAAAAinsG) ...

MDPI2023

Powering the social brain: Mitochondria in social behaviour

Maria del Carmen Sandi Perez, Dogukan Hazar Ülgen, Silvie Rosalie Ruigrok

A central role of brain mitochondria in regulating and influencing social behaviour is emerging. In addition to its important roles as the "powerhouses" of the cell, mitochondria possess a plethora of cellular functions, such as regulating ion homeostasis, ...

2023

Transcriptomic analysis reveals mitochondrial pathways associated with distinct adolescent behavioral phenotypes and stress response

Maria del Carmen Sandi Perez, Dogukan Hazar Ülgen, Thamyris Silva

Adolescent individuals exhibit great variability in cortical dynamics and behavioral outcomes. The developing adolescent brain is highly sensitive to social experiences and environmental insults, influencing how personality traits emerge. A distinct patter ...

2023

Mitophagy Activation by Urolithin A to Target Muscle Aging

Davide D'Amico, Anurag Singh

The age-related loss of skeletal muscle function starts from midlife and if left unaddressed can lead to an impaired quality of life. A growing body of evidence indicates that mitochondrial dysfunction is causally involved with muscle aging. Muscles are ti ...

New York2023

C2CAplus: A One-Pot Isothermal Circle-to-Circle DNA Amplification System

Sebastian Maerkl, Laura Sophie Grasemann

Rolling circle amplification (RCA) is a widely used DNA amplification method that uses circular template DNA as input and produces multimeric, linear single- or double-stranded DNA. Circle-to-circle amplification (C2CA) has further expanded this method by ...

Washington2023

Spatially multiplexed single-molecule translocations through a nanopore at controlled speeds

Aleksandra Radenovic, Georg Fantner, Vytautas Navikas, Barney Frederick Drake, Helena Miljkovic, Simon Finn Mayer, Sanjin Marion

In current nanopore-based label-free single-molecule sensing technologies, stochastic processes influence the selection of translocating molecule, translocation rate and translocation velocity. As a result, single-molecule translocations are challenging to ...

2023

Mitochondrial matrix protein LETMD1 maintains thermogenic capacity of brown adipose tissue in male mice

Johan Auwerx, Xiaoxu Li, Jun Yong Kim, Maroun Bou Sleiman

Brown adipose tissue (BAT) has abundant mitochondria with the unique capability of generating heat via uncoupled respiration. Here, Park et al. identify LETMD1 as a mitochondrial matrix protein enriched in brown adipose tissue (BAT) and reveal a crucial ro ...

NATURE PORTFOLIO2023

A mitochondria-specific mutational signature of aging: increased rate of A > G substitutions on the heavy strand

Jacques Fellay, Konstantin Popadin, Dmitrii Iliushchenko, Stepan Denisov

The mutational spectrum of the mitochondrial DNA (mtDNA) does not resemble any of the known mutational signatures of the nuclear genome and variation in mtDNA mutational spectra between different organisms is still incomprehensible. Since mitochondria are ...

OXFORD UNIV PRESS2022

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