Lista de obras - Antonella Spinazzola - Dominio Público Uruguay

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

artículo científico publicado en 2017

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

artículo científico publicado en 2017

Altered thymidine metabolism due to defects of thymidine phosphorylase

artículo científico publicado en 2002

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

artículo científico publicado en 2014

Beyond the unwinding: role of TOP1MT in mitochondrial translation

artículo científico publicado en 2019

Clinical and molecular features of mitochondrial DNA depletion syndromes.

artículo científico publicado en 2008

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

artículo científico publicado en 2017

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

artículo científico publicado en 2001

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

scientific article published on 11 September 2009

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

artículo científico publicado en 2009

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

artículo científico publicado en 2011

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

artículo científico publicado en 2009

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

artículo científico publicado en 2010

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

artículo científico publicado en 2009

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

artículo científico publicado en 2009

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

artículo científico publicado en 2008

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

artículo científico publicado en 2008

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

artículo científico publicado en 2018

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

scientific article published on 07 February 2008

MNGIE: from nuclear DNA to mitochondrial DNA.

artículo científico publicado en 2001

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

artículo científico publicado en 2016

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

artículo científico publicado en 2006

MPV17L2 is required for ribosome assembly in mitochondria

artículo científico publicado en 2014

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

scientific article published on 01 August 2019

Mitochondrial DNA mutations and depletion in pediatric medicine.

artículo científico publicado en 2011

Mitochondrial disorders

scientific article published on 01 September 2003

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

artículo científico publicado en 2004

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

artículo científico publicado en 2002

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.

artículo científico publicado en 2012

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

artículo científico publicado en 2016

Nuclear genes in mitochondrial disorders.

artículo científico publicado en 2003

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

artículo científico publicado en 1999

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

artículo científico publicado en 2016

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

artículo científico publicado en 2017

The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis

scientific article published in Nature Communications

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

artículo científico publicado en 2004

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

artículo científico publicado en 1999

Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication

scientific article published on 01 November 2018

Lista de obras de Antonella Spinazzola

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Aberrant ribonucleotide incorporation and multiple deletions in mitochondrial DNA of the murine MPV17 disease model

Altered thymidine metabolism due to defects of thymidine phosphorylase

Amino acid starvation has opposite effects on mitochondrial and cytosolic protein synthesis

Beyond the unwinding: role of TOP1MT in mitochondrial translation

Clinical and molecular features of mitochondrial DNA depletion syndromes.

Clinicopathologic and molecular spectrum of RNASEH1-related mitochondrial disease

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

Collated mutations in mitochondrial DNA (mtDNA) depletion syndrome (excluding the mitochondrial gamma polymerase, POLG1).

Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk.

EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders

EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias

EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias

EFNS guidelines on the molecular diagnosis of mitochondrial disorders

EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

LETM1 couples mitochondrial DNA metabolism and nutrient preference.

Lack of founder effect for an identical mtDNA depletion syndrome (MDS)-associated MPV17 mutation shared by Navajos and Italians

MNGIE: from nuclear DNA to mitochondrial DNA.

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

MPV17L2 is required for ribosome assembly in mitochondria

MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy

Mitochondrial DNA mutations and depletion in pediatric medicine.

Mitochondrial disorders

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the 5698G-->A mitochondrial DNA mutation.

Mitochondrial neurogastrointestinal encephalomyopathy and thymidine metabolism: results and hypotheses.

Mitochondrial nucleoid interacting proteins support mitochondrial protein synthesis.

Mitochondrial quality control: Cell-type-dependent responses to pathological mutant mitochondrial DNA

Nuclear genes in mitochondrial disorders.

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

Pathological ribonuclease H1 causes R-loop depletion and aberrant DNA segregation in mitochondria

Reply: Genotype-phenotype correlation in ATAD3A deletions: not just of scientific relevance.

The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis

Thymidine phosphorylase deficiency causes MNGIE: an autosomal recessive mitochondrial disorder.

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

Transcript availability dictates the balance between strand-asynchronous and strand-coupled mitochondrial DNA replication