Lista de obras - Henna Tyynismaa - Dominio Público Uruguay

A Metabolic Vulnerability of Vision

artículo científico publicado en 2019

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

artículo científico publicado en 2009

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

scientific article published on 16 September 2019

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

artículo científico publicado en 2017

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

artículo científico publicado en 2018

Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady-State Levels, and Assembled OXPHOS Complexes

artículo científico publicado en 2018

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

artículo científico publicado en 2016

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

artículo científico publicado en 2015

Capsid-modified adenoviral vectors for improved muscle-directed gene therapy

artículo científico publicado en 2012

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

artículo científico publicado en 2017

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

Comparison of solution-based exome capture methods for next generation sequencing

artículo científico publicado en 2011

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

artículo científico publicado en 2014

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

artículo científico publicado en 2013

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

scientific article published on 03 March 2013

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

artículo científico publicado en 2015

Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria

artículo científico publicado en 2017

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

artículo científico publicado en 2011

Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome

artículo científico publicado en 2015

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

artículo científico publicado en 2011

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

artículo científico publicado en 2006

High mitochondrial DNA copy number has detrimental effects in mice

artículo científico publicado en 2010

Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks

scientific article published on 12 June 2009

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

article

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

artículo científico publicado en 2015

Ketogenic diet slows down mitochondrial myopathy progression in mice

artículo científico publicado en 2010

Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.

artículo científico publicado en 2010

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

artículo científico publicado en 2018

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

artículo científico publicado en 2017

Metabolic determination of cell fate through selective inheritance of mitochondria

artículo científico publicado en 2022

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

artículo científico publicado en 2016

Mitochondrial aminoacyl-tRNA synthetases in human disease

artículo científico

Mitochondrial myopathy induces a starvation-like response

artículo científico publicado en 2010

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

artículo científico publicado en 2012

Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation

artículo científico publicado en 2010

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

artículo científico publicado en 2014

Mouse models of mitochondrial DNA defects and their relevance for human disease

scientific article published on 16 January 2009

Mouse models of mtDNA replication diseases

scientific article published on 10 April 2010

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

artículo científico publicado en 2005

Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress

artículo científico publicado en 2015

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

scientific article published on 04 December 2018

Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

artículo científico publicado en 2018

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

artículo científico publicado en 2010

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy

artículo científico publicado en 2018

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

artículo científico publicado en 2015

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

artículo científico publicado en 2011

Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

artículo científico publicado en 2012

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

artículo científico publicado en 2016

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

artículo científico publicado en 2015

TRIM2, a novel member of the antiviral family, limits New World arenavirus entry

artículo científico publicado en 2019

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

artículo científico publicado en 2013

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

artículo científico publicado en 2015

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

artículo científico publicado en 2013

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

artículo científico publicado en 2022

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

artículo científico publicado en 2011

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

artículo científico publicado en 2015

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

artículo científico publicado en 2004

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

artículo científico publicado en 2009

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

artículo científico publicado en 2016

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy

artículo científico publicado en 2013

Lista de obras de Henna Tyynismaa

A Metabolic Vulnerability of Vision

A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions

A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome

ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia

Absence of NEFL in patient-specific neurons in early-onset Charcot-Marie-Tooth neuropathy.

Analysis of Mitochondrial Protein Synthesis: De Novo Translation, Steady-State Levels, and Assembled OXPHOS Complexes

CHCHD10 mutations and motor neuron disease: the distribution in Finnish patients

CHCHD10 variant p.(Gly66Val) causes axonal Charcot-Marie-Tooth disease

Capsid-modified adenoviral vectors for improved muscle-directed gene therapy

Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Comparison of solution-based exome capture methods for next generation sequencing

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Deficiency of the E3 ubiquitin ligase TRIM2 in early-onset axonal neuropathy

Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland

Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia

Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria

Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy

Exposure to arginine analog canavanine induces aberrant mitochondrial translation products, mitoribosome stalling, and instability of the mitochondrial proteome

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

Genetic background of HSH in three Polish families and a patient with an X;9 translocation

High mitochondrial DNA copy number has detrimental effects in mice

Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks

Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy

Intrafamilial clinical variability in individuals carrying the CHCHD10 mutation Gly66Val.

Ketogenic diet slows down mitochondrial myopathy progression in mice

Liver fat but not other adiposity measures influence circulating FGF21 levels in healthy young adult twins.

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

Metabolic determination of cell fate through selective inheritance of mitochondria

Mitochondrial DNA Replication Defects Disturb Cellular dNTP Pools and Remodel One-Carbon Metabolism

Mitochondrial aminoacyl-tRNA synthetases in human disease

Mitochondrial myopathy induces a starvation-like response

Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy

Mitochondrial single-stranded DNA binding protein is required for maintenance of mitochondrial DNA and 7S DNA but is not required for mitochondrial nucleoid organisation

Mixing and matching mitochondrial aminoacyl synthetases and their tRNAs: a new way to treat respiratory chain disorders?

Mouse models of mitochondrial DNA defects and their relevance for human disease

Mouse models of mtDNA replication diseases

Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice

Overexpression of TFAM or twinkle increases mtDNA copy number and facilitates cardioprotection associated with limited mitochondrial oxidative stress

Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy

Redox regulation of GRPEL2 nucleotide exchange factor for mitochondrial HSP70 chaperone

Reply: A novel MCM3AP mutation in a Lebanese family with recessive Charcot-Marie-Tooth neuropathy

Ribonucleotide reductase is not limiting for mitochondrial DNA copy number in mice

Screening for Fabry disease and Hereditary ATTR amyloidosis in idiopathic small-fiber and mixed neuropathy

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

Serum angiopoietin-like 4 protein levels and expression in adipose tissue are inversely correlated with obesity in monozygotic twins

Somatic Progenitor Cell Vulnerability to Mitochondrial DNA Mutagenesis Underlies Progeroid Phenotypes in Polg Mutator Mice

Splicing Defect in Mitochondrial Seryl-tRNA Synthetase Gene Causes Progressive Spastic Paresis Instead of HUPRA Syndrome

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

TRIM2, a novel member of the antiviral family, limits New World arenavirus entry

Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy

The overexpression of Twinkle helicase ameliorates the progression of cardiac fibrosis and heart failure in pressure overload model in mice

Threshold of heteroplasmic truncating MT-ATP6 mutation in reprogramming, Notch hyperactivation and motor neuron metabolism

Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.

Truncated HSPB1 causes axonal neuropathy and impairs tolerance to unfolded protein stress

Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number

Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

Unique Exercise Lactate Profile in Muscle Phosphofructokinase Deficiency (Tarui Disease); Difference Compared with McArdle Disease

Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy