Lista de obras - Anna Wredenberg - Dominio Público Uruguay

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

artículo científico publicado en 2017

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

scientific article published on 12 February 2019

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

artículo científico publicado en 2016

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

scientific article published on 01 September 2019

Chorea, psychosis, acanthocytosis, and prolonged survival associated with mutations

artículo científico publicado en 2018

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies

artículo científico publicado en 2015

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

scientific article published on 01 May 2000

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy

artículo científico publicado en 2015

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

artículo científico publicado en 2019

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

artículo científico publicado en 2017

Effects of high resistance training in patients with myotonic dystrophy

scientific article published on 01 March 1999

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

artículo científico publicado en 2021

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy

artículo científico publicado en 2008

Increased mitochondrial mass in mitochondrial myopathy mice

artículo científico publicado en 2002

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

artículo científico publicado en 2021

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

scientific journal article

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

artículo científico publicado en 2012

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

artículo científico publicado en 2013

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

artículo científico publicado en 2019

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy. ⬇️

artículo científico publicado en 2019

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

scientific article published on 27 March 2019

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

artículo científico publicado en 2014

Premature ageing in mice expressing defective mitochondrial DNA polymerase

artículo científico publicado en 2004

Quantitative Proteomics in Drosophila with Holidic Stable-Isotope Labeling of Amino Acids in Fruit Flies (SILAF)

artículo científico publicado en 2021

RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis

scientific article published in Nature Communications

Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice

artículo científico publicado en 2009

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

artículo científico publicado en 2014

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

artículo científico publicado en 2015

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

artículo científico publicado en 2017

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance

artículo científico publicado en 2006

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

artículo científico publicado en 2019

SUV3 helicase is required for correct processing of mitochondrial transcripts

artículo científico publicado en 2015

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

artículo científico publicado en 2005

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits

artículo científico publicado en 2021

Strong purifying selection in transmission of mammalian mitochondrial DNA

artículo científico publicado en 2008

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster

artículo científico publicado en 2011

Lista de obras de Anna Wredenberg

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma.

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

C6orf203 is an RNA-binding protein involved in mitochondrial protein synthesis

Chorea, psychosis, acanthocytosis, and prolonged survival associated with mutations

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies

Complex genetic counselling and prenatal analysis in a woman with external ophthalmoplegia and deleted mtDNA

Cyclophilin D, a target for counteracting skeletal muscle dysfunction in mitochondrial myopathy

Defects of mitochondrial RNA turnover lead to the accumulation of double-stranded RNA in vivo

Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics.

Effects of high resistance training in patients with myotonic dystrophy

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy

Increased mitochondrial mass in mitochondrial myopathy mice

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

MTERF3 regulates mitochondrial ribosome biogenesis in invertebrates and mammals

Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse

Mutations in the mitochondrial tryptophanyl-tRNA synthetase cause growth retardation and progressive leukoencephalopathy. ⬇️

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions

Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway

Premature ageing in mice expressing defective mitochondrial DNA polymerase

Quantitative Proteomics in Drosophila with Holidic Stable-Isotope Labeling of Amino Acids in Fruit Flies (SILAF)

RNA modification landscape of the human mitochondrial tRNA regulates protein synthesis

Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism.

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid.

Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model.

Respiratory chain dysfunction in skeletal muscle does not cause insulin resistance

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

SUV3 helicase is required for correct processing of mitochondrial transcripts

Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production

Stable Isotope Labeling of Amino Acids in Flies (SILAF) Reveals Differential Phosphorylation of Mitochondrial Proteins Upon Loss of OXPHOS Subunits

Strong purifying selection in transmission of mammalian mitochondrial DNA

The bicoid stability factor controls polyadenylation and expression of specific mitochondrial mRNAs in Drosophila melanogaster