Mitochondrial diseases

GS Gorman, PF Chinnery, S DiMauro… - Nature reviews Disease …, 2016 - nature.com
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in
oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) …

Mitochondrial diseases: the contribution of organelle stress responses to pathology

A Suomalainen, BJ Battersby - Nature reviews Molecular cell biology, 2018 - nature.com
Mitochondrial diseases affect one in 2,000 individuals; they can present at any age and they
can manifest in any organ. How defects in mitochondria can cause such a diverse range of …

The ClusPro web server for protein–protein docking

D Kozakov, DR Hall, B Xia, KA Porter, D Padhorny… - Nature protocols, 2017 - nature.com
Abstract The ClusPro server (https://cluspro. org) is a widely used tool for protein–protein
docking. The server provides a simple home page for basic use, requiring only two files in …

POLG-related disorders and their neurological manifestations

S Rahman, WC Copeland - Nature Reviews Neurology, 2019 - nature.com
The POLG gene encodes the mitochondrial DNA polymerase that is responsible for
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …

The genetics and pathology of mitochondrial disease

CL Alston, MC Rocha, NZ Lax… - The Journal of …, 2017 - Wiley Online Library
Mitochondria are double‐membrane‐bound organelles that are present in all nucleated
eukaryotic cells and are responsible for the production of cellular energy in the form of ATP …

Mitochondrial medicine in the omics era

J Rahman, S Rahman - The Lancet, 2018 - thelancet.com
Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

[PDF][PDF] Identification of genetic factors that modify clinical onset of Huntington's disease

JM Lee, VC Wheeler, MJ Chao, JPG Vonsattel… - Cell, 2015 - cell.com
As a Mendelian neurodegenerative disorder, the genetic risk of Huntington's disease (HD) is
conferred entirely by an HTT CAG repeat expansion whose length is the primary …

Mitochondrial disorders as windows into an ancient organelle

SB Vafai, VK Mootha - Nature, 2012 - nature.com
Much of our current knowledge about mitochondria has come from studying patients who
have respiratory chain disorders. These disorders comprise a large collection of individually …

Mitochondrial dysfunction in inherited renal disease and acute kidney injury

F Emma, G Montini, SM Parikh, L Salviati - Nature Reviews Nephrology, 2016 - nature.com
Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …

The control of the metabolic switch in cancers by oncogenes and tumor suppressor genes

AJ Levine, AM Puzio-Kuter - Science, 2010 - science.org
Cells from some tumors use an altered metabolic pattern compared with that of normal
differentiated adult cells in the body. Tumor cells take up much more glucose and mainly …