Mitochondrial disease: generating models, investigating mechanisms and exploring treatments.
- Prosjektnummer
- 911391
- Ansvarlig person
- Laurence Bindoff
- Institusjon
- Universitetet i Bergen
- Prosjektkategori
- Forskningsprosjekt
- Helsekategori
- Neurological
- Forskningsaktivitet
- 2. Aetiology
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
Hum Mol Genet 2010 Aug;19(15):3043-52. Epub 2010 mai 18
PMID: 20484224
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
Brain 2010 May;133(Pt 5):1428-37. Epub 2010 apr 16
PMID: 20400524
Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy.
Biochim Biophys Acta 2010 Jun;1802(6):539-44. Epub 2010 mar 4
PMID: 20206689
Multi-system neurological disease is common in patients with OPA1 mutations.
Brain 2010 Mar;133(Pt 3):771-86. Epub 2010 feb 15
PMID: 20157015
A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy.
Acta Neurol Scand 2010 Feb;121(2):109-13. Epub 2009 sep 10
PMID: 19744136
A novel Refsum-like disorder that maps to chromosome 20.
Neurology 2009 Jan;72(1):20-7. Epub 2008 nov 12
PMID: 19005174
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
Nat Genet 2009 Jan;41(1):95-100. Epub 2008 des 14
PMID: 19079258
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
Stroke 2009 Feb;40(2):e15-7. Epub 2008 des 18
PMID: 19095975
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
Eur J Hum Genet 2009 Jul;17(7):967-75. Epub 2009 jan 21
PMID: 19156175
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.
Epilepsy Behav 2009 Sep;16(1):172-4. Epub 2009 jan 28
PMID: 19435586
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
Acta Neurol Scand Suppl 2009.
PMID: 19566497
POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
Brain 2008 Mar;131(Pt 3):818-28. Epub 2008 jan 30
PMID: 18238797
Melas associated with mutations in the polg1 gene.
Neurology 2008 Mar;70(13):1054; author reply 1054-5.
PMID: 18362288
A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance.
Neuromuscul Disord 2008;18(4):310-4.
PMID: 18396045
Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.
Mov Disord 2008;23(11):1624-6.
PMID: 18581472
Correlation between genetic and geographic structure in Europe.
Curr Biol 2008 Aug;18(16):1241-8. Epub 2008 aug 7
PMID: 18691889
Neurological features and enzyme therapy in patients with endocrine and exocrine pancreas dysfunction due to CEL mutations.
Diabetes Care 2008 Sep;31(9):1738-40. Epub 2008 jun 10
PMID: 18544793
Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
J Neurol 2008 Aug;255(8):1142-4. Epub 2008 jun 23
PMID: 18563470
Clinical and molecular studies of disease caused by mutations of the mitochondrial DNA polymerase gamma (POLG)
- Disputert:
- november 2010
- Hovedveileder:
- Laurence Bindoff
eRapport er utarbeidet av Sølvi Lerfald og Reidar Thorstensen, Regionalt kompetansesenter for klinisk forskning, Helse Vest RHF, og videreutvikles av de fire RHF-ene i fellesskap, med støtte fra Helse Vest IKT
Alle henvendelser rettes til Faglig rapportering, Helse Vest