List of works - Katharina Danhauser

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

scientific article

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

article

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

scientific article

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

scientific article

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

scientific journal article

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

scientific article published on 20 December 2014

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

scientific article published on 17 June 2015

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

article

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

scientific article published on February 17, 2015

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

scientific article published on 16 January 2016

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

scientific article published on 17 August 2018

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

scientific article

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

scientific article published on 14 June 2017

Democratizing knowledge representation with BioCypher

Democratising Knowledge Representation with BioCypher

scientific article published on 27 December 2022

List of works by Katharina Danhauser

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α.

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9.

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease

EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

Bi-allelic mutations in result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities

Democratizing knowledge representation with BioCypher

Democratising Knowledge Representation with BioCypher