Results 1 -
10
of
10
for
Depletion of mitochondrial DNA in liver
- MPV17-related hepatocerebral mitochondrial DNA depletion syndrome is an inherited disorder that can cause liver disease and neurological problems. The signs and symptoms of this condition begin in infancy and typically include vomiting, diarrhea, ...
- ... in the amount of mtDNA (known as mitochondrial DNA depletion) impairs mitochondrial function in many of the body's cells and tissues. These problems lead to the brain, liver, and muscle dysfunction associated with deoxyguanosine kinase deficiency. ...
- TK2-related mitochondrial DNA depletion syndrome, myopathic form (TK2-MDS) is an inherited condition that causes progressive muscle weakness (myopathy).The ...
- SUCLG1-related mitochondrial DNA (mtDNA) depletion syndrome is an inherited disorder that affects the early development of the brain. Signs and symptoms typically ...
- ... Registry: Mitochondrial DNA depletion syndrome 13 Mitochondrial DNA depletion syndrome Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies ...
- ... Infantile onset spinocerebellar ataxia Infantile-onset spinocerebellar ataxia Mitochondrial DNA depletion syndrome National Organization for Rare Disorders (NORD) MITOCHONDRIAL ...
- ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A PubMed Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with ...
- ... γ that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular ...
- ... γ that has a reduced ability to replicate DNA. Although the mechanism is unknown, mutations in the POLG gene often result in fewer copies of mtDNA (mtDNA depletion), particularly in muscle, brain, or liver cells. MtDNA depletion causes a decrease in cellular ...
- ... F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: ... DNA level on cellular energy metabolism: implications for mitochondrial ...
