Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, ATP Synthase and ATPases Research, and RNA modifications and cancer.
Clinical long-read genome sequencing for rare disease diagnostics
Should we be careful with exercise in post-exertional malaise after long COVID?
Mutations in <i>NSUN3</i>, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.
Characterisation of an Adult Zebrafish Model for <i>SDHB</i>-Associated Phaeochromocytomas and Paragangliomas.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests
Recessive pathogenic variants in MCAT cause combined oxidative phosphorylation deficiency
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
RRM1 variants cause a mitochondrial DNA maintenance disorder via impaired de novo nucleotide synthesis.
<i>SMDT1</i>
variants impair EMRE-mediated mitochondrial calcium uptake in patients with muscle involvement
Variants in Mitochondrial <scp>ATP</scp> Synthase Cause Variable Neurologic Phenotypes
Long-term treated HIV infection is associated with platelet mitochondrial dysfunction
Soluble adenylyl cyclase regulates the cytosolic NADH/NAD+ redox state and the bioenergetic switch between glycolysis and oxidative phosphorylation
Effect of neuropsychiatric medications on mitochondrial function: For better or for worse.
Exome sequencing in paediatric patients with movement disorders
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.
A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction.
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
TMEM70 functions in the assembly of complexes I and V
Mutations in the V-ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease.
Variants in <i>NGLY1</i> lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male mice.
KBTBD13 is an actin-binding protein that modulates muscle kinetics.
Identification of a Novel Variant in <i>EARS2</i> Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy
Biallelic variants in <i>LARS2</i> and <i>KARS</i> cause deafness and (ovario)leukodystrophy
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis
Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients