Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research focused on Cholestasis and Mitochondrial DNA, with related work in Missense mutation, Lactic acidosis, Progressive familial intrahepatic cholestasis. Notable publications include 'MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast', 'SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)', and 'POLRMT mutations impair mitochondrial transcription causing neurological disease'.
POLRMT mutations impair mitochondrial transcription causing neurological disease
SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)
<i>MTO1</i> Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast