Taanman, J;
(2019)
Mitochondrial disorders and neurodegeneration.
[Digital scholarly resource].
https://hstalks.com/bs/4005/
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Abstract
Key point abstract Mitochondrial structure – Mitochondrial function – Oxidative phosphorylation – Mitochondrial DNA (mtDNA) structure, replication and maternal inheritance – Diseases caused by mutations in mtDNA – Heteroplasmic and homoplasmic mtDNA mutations – Point mutations, deletions and depletion of mtDNA – Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) – Progressive external ophthalmoplegia (PEO)¬ – Kearns-Sayre syndrome – Pearson’s syndrome¬ – Mitochondrial replacement therapy – Pronuclear transfer – Maternal spindle transfer – Diseases caused by mutations in nuclear genes coding for mitochondrial proteins – Nuclear gene defects of mtDNA replication – Nuclear gene defects of mitochondrial deoxynucleotide synthesis – POLG mutations – Alpers’ disease – Autosomal dominant and autosomal recessive PEO – Friedreich’s ataxia – Hereditary spastic paraplegia – Dominant optic atrophy – Charcot-Marie-Tooth disease type 2A – Early-onset Parkinson’s disease – PINK1 mutations – Parkin mutations.¬
| Type: | Digital scholarly resource |
|---|---|
| Title: | Mitochondrial disorders and neurodegeneration |
| Publisher version: | https://hstalks.com/bs/4005/ |
| Language: | English |
| Additional information: | This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Mitochondria, Oxidative phosphorylation, Mitochondrial DNA, Mitochondrial encephalomyopathy, Progressive external ophthalmoplegia, Kearns-Sayre syndrome, Pearson's syndrome, Alper's disease, Friedreich's ataxia, Hereditary spastic paraplegia, Dominant optic atrophy, Charcot-Marie-Tooth disease type 2A, Parkinson's disease |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10081025 |
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