Lista de obras - Cristina Dallabona - Dominio Público Uruguay

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

artículo científico publicado en 2013

A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability

artículo científico publicado en 2007

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

artículo científico publicado en 2017

DNA polymerase γ and disease: what we have learned from yeast

artículo científico publicado en 2015

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

artículo científico publicado en 2015

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

artículo científico publicado en 2017

Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function

artículo científico publicado en 2017

Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions

artículo científico publicado en 2015

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

artículo científico publicado en 2006

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

artículo científico publicado en 2016

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

artículo científico publicado en 2013

Mitochondrial diseases and the role of the yeast models

artículo científico publicado en 2010

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

artículo científico publicado en 2015

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

artículo científico publicado en 2012

Novel (ovario) leukodystrophy related to AARS2 mutations

artículo científico publicado en 2014

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

artículo científico publicado en 2014

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

artículo científico publicado en 2010

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

artículo científico publicado en 2016

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

artículo científico publicado en 2009

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

scientific journal article

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

artículo científico publicado en 2014

Lista de obras de Cristina Dallabona

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

A single nucleotide polymorphism in the DNA polymerase gamma gene of Saccharomyces cerevisiae laboratory strains is responsible for increased mitochondrial DNA mutability

Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy

DNA polymerase γ and disease: what we have learned from yeast

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

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

Elongator-dependent modification of cytoplasmic tRNALysUUU is required for mitochondrial function under stress conditions

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Mitochondrial diseases and the role of the yeast models

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

Novel (ovario) leukodystrophy related to AARS2 mutations

Polymorphisms in DNA polymerase γ affect the mtDNA stability and the NRTI-induced mitochondrial toxicity in Saccharomyces cerevisiae

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies