about
DNA polymerase γ and disease: what we have learned from yeastTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberMTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.Novel (ovario) leukodystrophy related to AARS2 mutationsPolymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae.A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutabilityDefective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegenerationElongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions.Mitochondrial diseases and the role of the yeast models.VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies.Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism.Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function.
P50
Q26825324-306D3724-1BD8-42C9-8C3C-8AA968C80198Q28115863-BF4F5C6D-A401-4F82-8E62-0751E9B40CD8Q29147460-113DAF4A-CA82-4FB4-AD22-FBED8A9D4F3EQ33641769-5CF8E2D5-E5C7-4067-8046-A780230C4911Q33641802-4BED0AA6-2F53-4611-9199-2E1171F0D4F3Q33987187-A71AD1ED-FD5E-492E-8F1A-B1D5F2035B9AQ35024623-CB72F5D3-2D4E-450B-84F6-5EF640F96F88Q36083286-D1D731D2-6004-4852-A340-125A4294C482Q36636084-E5099095-78A2-4D18-B334-BB7C3C019AE5Q36676640-5A626471-F69C-4505-B271-F593E5EEE379Q37800147-2F956B58-FFDE-418A-B449-4ED1F6FF0A7EQ38995109-357A4120-CAEC-4FD3-9560-5725766BEFD0Q39232047-CB4253A8-3F97-4ABD-8D93-A427C3C75589Q39970753-8E03E236-D7E0-4C28-B1A8-30FA350F26ECQ41836048-2AE83000-5A8A-41F2-9563-3C2ACB16F391Q42316658-87A65947-39EC-4FF2-B77B-07FF9EFBD4A5Q42356989-06118E05-2D5B-41A7-AC93-6DC479335536Q43794702-2ECFCDEA-FF3A-4403-9E0D-3E2708B1DDD8Q47188526-3C43865B-C03D-455C-8E7D-74B01C00FBEDQ47417092-CD8419B7-925D-48C6-A5D8-DBEDCA4E5677Q47707444-5E43900C-453C-4BEC-AE06-2CB4F3A1D211Q47745027-591C66BC-08F5-4330-9910-462FA8DA965B
P50
description
researcher, ORCID id # 0000-0003-4397-9143
@en
wetenschapper
@nl
name
Cristina Dallabona
@ast
Cristina Dallabona
@en
Cristina Dallabona
@es
Cristina Dallabona
@nl
type
label
Cristina Dallabona
@ast
Cristina Dallabona
@en
Cristina Dallabona
@es
Cristina Dallabona
@nl
prefLabel
Cristina Dallabona
@ast
Cristina Dallabona
@en
Cristina Dallabona
@es
Cristina Dallabona
@nl
P106
P1153
14630101000
P21
P31
P496
0000-0003-4397-9143