Reetta Hinttala

Stereospecific GPG acylation by CLN8 drives BMP biosynthesis and its loss leads to Batten disease

This study identifies CLN8 as a stereospecific GPG acyltransferase critical for BMP biosynthesis, showing its loss causes Batten disease and that S,S-LPG supplementation can restore BMP and improve neurological symptoms.

A novel method for obtaining epileptic brain tissue for omic analyses using electrodes from a clinical stereoelectroencephalography study

This paper describes a method to obtain brain tissue for omic analyses using SEEG electrodes, showing concordant transcriptomic and proteomic findings across different epileptic zones.

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.

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

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.

FINCA disease mouse model exhibits altered behaviour and immune response

The paper describes a FINCA mouse model with mild hyperactivity and altered immune response, identifying Rho GTPase signaling as a key pathway affected by the p.Asp148Tyr variant in NHLRC2.

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

ciRS-7 and miR7 regulate ischemia induced neuronal death via glutamatergic signaling

The paper shows that ciRS-7 and miR-7 regulate ischemia-induced neuronal death through glutamatergic signaling in mice.

GWAS of preeclampsia and hypertensive disorders of pregnancy uncovers genes related to cardiometabolic, endothelial and placental function

This study conducts a GWAS of preeclampsia and hypertensive disorders of pregnancy, identifying 18 genome-wide significant loci, including novel associations with blood pressure and placental function.

Analysis of human brain tissue derived from DBS surgery

The paper describes a method to collect brain tissue from DBS surgical instruments for transcriptomic and proteomic analysis, showing it provides reliable data comparable to traditional brain tissue samples.

FinnGen: Unique genetic insights from combining isolated population and national health register data

Finnish-enriched low-frequency variants, often coding, underlie many GWAS signals across 1,932 register endpoints in 218,792 Finns; a 15-disease meta-analysis with Estonian and UK biobanks adds 30 unreported associations.

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.