Ilkka Miinalainen

P4HA3 is abundantly expressed during early embryonic development, but does not catalyze the formation of 4-hydroxyproline in type I collagen

Novel Cln8 p.R24G mouse line replicates major clinical features of Northern epilepsy

This paper generates a Cln8 p.R24G mouse model that phenocopies major clinical features of Northern epilepsy, including seizures and neurodegeneration.

GLE1 dysfunction compromises cellular homeostasis, spatial organization, and peripheral axon branching

This study investigates the role of GLE1 in cellular homeostasis and development, showing that its dysfunction leads to embryonic lethality and mid-adulthood death in mice, with defects in neural crest-derived tissues and stress responses.

Collagen prolyl 4-hydroxylases have sequence specificity towards different X-Pro-Gly triplets

This study identifies sequence specificity of collagen prolyl 4-hydroxylase isoenzymes for different X-Pro-Gly triplets and their impact on collagen stability and assembly.

Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia

This study shows that deletion of Hif-p4h-2 in FoxD1-lineage mesenchymal cells causes congenital truncal alopecia by disrupting hair follicle development and signaling pathways.