List of works - Reetta Hinttala

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

scientific article

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

scientific article

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

scientific article published on 3 October 2014

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

scientific article published on 06 September 2007

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

scientific article published on 24 April 2015

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli

scientific article published on 01 March 2010

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

scientific article published on 31 May 2006

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

scientific journal article

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease

scientific article published on 01 December 2018

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

scientific article

Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

scientific article published on 17 May 2016

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

scientific article published on 30 June 2017

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

scientific article

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

scientific article published on 5 May 2015

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

scientific article published in July 2017

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

scientific article published on 15 November 2021

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

scientific article published on 22 September 2006

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

scientific article published on 8 February 2018

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

scientific article published on 14 July 2017

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

scientific article

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

scientific article published on 5 March 2008

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

scientific article

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

scientific article published on 5 March 2015

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

scientific article published in PLoS ONE

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

scientific article

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy

scientific article published on 26 September 2018

List of works by Reetta Hinttala

A homozygous I684T in GLE1 as a novel cause of arthrogryposis and motor neuron loss.

A novel MTTT mutation m.15933G > A revealed in analysis of mitochondrial DNA in patients with suspected mitochondrial disease

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

Analysis of functional consequences of haplogroup J polymorphisms m.4216T>C and m.3866T>C in human MT-ND1: mutagenesis of homologous positions in Escherichia coli

Analysis of mitochondrial DNA sequences in patients with isolated or combined oxidative phosphorylation system deficiency.

Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy ⬇️

Biallelic mutations in human NHLRC2 enhance myofibroblast differentiation in FINCA disease

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.

Evaluating clinical mitochondrial respiratory chain enzymes from biopsy specimens presenting skewed probability distribution of activity data

Intractable Epilepsy due to MTR Deficiency: Importance of Homocysteine Analysis

LHON/MELAS overlap mutation in ND1 subunit of mitochondrial complex I affects ubiquinone binding as revealed by modeling in Escherichia coli NDH-1.

Mitochondrial DNA Depletion and Deletions in Paediatric Patients with Neuromuscular Diseases: Novel Phenotypes.

Mitochondrial hearing loss mutations among Finnish preterm and term-born infants.

Modeling Rare Human Disorders in Mice: The Finnish Disease Heritage

Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome.

NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease.

Novel non-neutral mitochondrial DNA mutations found in childhood acute lymphoblastic leukemia

POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype

Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy.

Sodium valproate induces mitochondrial respiration dysfunction in HepG2 in vitro cell model.

Structural analysis of human NHLRC2, mutations of which are associated with FINCA disease

The MELAS mutations 3946 and 3949 perturb the critical structure in a conserved loop of the ND1 subunit of mitochondrial complex I.

Variants p.Q1236H and p.E1143G in mitochondrial DNA polymerase gamma POLG1 are not associated with increased risk for valproate-induced hepatotoxicity or pancreatic toxicity: A retrospective cohort study of patients with epilepsy