Anthi Drousiotou
Nicosia, Cyprus
Last Updated: 09/26/2026
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Found 28 publications
YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.
Journal: Journal of inherited metabolic disease
Published: November 15, 2024
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.
Journal: Molecular genetics and metabolism reports
Published: September 23, 2024
Stbd1 stimulates AMPK signaling and alleviates insulin resistance in an in vitro hepatocyte model.
Journal: The FEBS journal
Published: July 08, 2024
Inherited metabolic disorders in Cyprus.
Journal: Molecular genetics and metabolism reports
Published: February 09, 2024
A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.
Journal: BMC medical genomics
Published: October 31, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2023
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Journal: Human molecular genetics
Published: April 11, 2022
When the Balance Tips: Dysregulation of Mitochondrial Dynamics as a Culprit in Disease.
Journal: International journal of molecular sciences
Published: April 07, 2021
Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts.
Journal: Journal of cell science
Published: February 03, 2020
Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content.
Journal: International journal of molecular sciences
Published: January 27, 2020
A novel SLC30A10 missense variant associated with parkinsonism and dystonia without hypermanganesemia.
Journal: Journal of the neurological sciences
Published: January 01, 2020
Last Updated: 09/26/2026