Reciprocal regulation of mitochondrial fission and fusion

R Sabouny, TE Shutt - Trends in biochemical sciences, 2020 - cell.com
The dynamic processes of mitochondrial fission and fusion are tightly regulated, determine
mitochondrial shape, and influence mitochondrial functions. For example, fission and fusion …

[HTML][HTML] Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion

R Sabouny, R Wong, L Lee-Glover… - … et Biophysica Acta (BBA …, 2019 - Elsevier
Mutations in FBXL4 (F-Box and Leucine rich repeat protein 4), a nuclear-encoded mitochondrial
protein with an unknown function, cause mitochondrial DNA depletion syndrome. We …

PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes

…, CM Goedhart, PN Sam, R Sabouny… - Life science …, 2019 - life-science-alliance.org
Exome sequencing of two sisters with congenital cataracts, short stature, and white matter
changes identified compound heterozygous variants in the PISD gene, encoding the …

The role of mitochondrial dynamics in mtDNA maintenance

R Sabouny, TE Shutt - Journal of cell science, 2021 - journals.biologists.com
The dynamic nature of mitochondria, which can fuse, divide and move throughout the cell,
allows these critical organelles to adapt their function in response to cellular demands, and is …

[HTML][HTML] A new automated tool to quantify nucleoid distribution within mitochondrial networks

HS Ilamathi, M Ouellet, R Sabouny… - Scientific reports, 2021 - nature.com
Mitochondrial DNA (mtDNA) maintenance is essential to sustain a functionally healthy
population of mitochondria within cells. Proper mtDNA replication and distribution within …

The Keap1–Nrf2 stress response pathway promotes mitochondrial hyperfusion through degradation of the mitochondrial fission protein Drp1

R Sabouny, E Fraunberger, M Geoffrion… - Antioxidants & redox …, 2017 - liebertpub.com
Aims: Mitochondrial function is coupled to metabolic and survival pathways through both
direct signaling cascades and dynamic changes in mitochondrial morphology. For example, a …

[HTML][HTML] Aberrant mitochondrial morphology and function in the BTBR mouse model of autism is improved by two weeks of ketogenic diet

Y Ahn, R Sabouny, BR Villa, NC Yee… - International journal of …, 2020 - mdpi.com
Autism spectrum disorder (ASD) is a highly prevalent neurodevelopmental disorder that
exhibits a common set of behavioral and cognitive impairments. Although the etiology of ASD …

[HTML][HTML] Perturbed mitochondrial dynamics is a novel feature of colitis that can be targeted to lessen disease

NL Mancini, L Goudie, W Xu, R Sabouny… - Cellular and molecular …, 2020 - Elsevier
Background & Aims Mitochondria exist in a constantly remodelling network, and excessive
fragmentation can be pathophysiological. Mitochondrial dysfunction can accompany enteric …

[HTML][HTML] Mesenchymal stem cells shift mitochondrial dynamics and enhance oxidative phosphorylation in recipient cells

C Newell, R Sabouny, DS Hittel, TE Shutt… - Frontiers in …, 2018 - frontiersin.org
Mesenchymal stem cells (MSCs) are the most commonly used cells in tissue engineering
and regenerative medicine. MSCs can promote host tissue repair through several different …

Reversible mitochondrial fragmentation in iPSC-derived cardiomyocytes from children with DCMA, a mitochondrial cardiomyopathy

L Rohani, P Machiraju, R Sabouny, G Meng… - Canadian Journal of …, 2020 - Elsevier
Background Dilated cardiomyopathy with ataxia syndrome (DCMA) is an understudied
autosomal recessive disease caused by loss-of-function mutations in the poorly characterized …