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) …
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 …
can manifest in any organ. How defects in mitochondria can cause such a diverse range of …
The ClusPro web server for protein–protein docking
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 …
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 …
replication of the mitochondrial genome. Mutations in POLG can cause early childhood …
The genetics and pathology of mitochondrial disease
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 …
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 …
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 …
conferred entirely by an HTT CAG repeat expansion whose length is the primary …
Mitochondrial disorders as windows into an ancient organelle
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 …
have respiratory chain disorders. These disorders comprise a large collection of individually …
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Mitochondria are increasingly recognized as key players in genetic and acquired renal
diseases. Most mitochondrial cytopathies that cause renal symptoms are characterized by …
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 …
differentiated adult cells in the body. Tumor cells take up much more glucose and mainly …