Jens Randel Nyengaard

Pathogenic O-GlcNAc dyshomeostasis associated with cortical malformations and hyperactivity

This study investigates a rodent model with an OGT-ID variant, revealing neurodevelopmental defects and behavioural abnormalities linked to O-GlcNAc dyshomeostasis.

BRD1 haploinsufficiency disrupts neurodevelopmental and metabolic homeostasis in a translational minipig model

This study shows that reduced BRD1 function in minipigs leads to coordinated neurodevelopmental and metabolic changes in both brain and peripheral tissues.

A triple serine motif in the intracellular domains of sortilin-related receptors SorCS1-3 regulates neurotrophic activity

This study identifies a triple serine motif in SorCS1-3 intracellular domains that regulates neurotrophic signaling through phosphorylation, leading to CREB activation and BDNF pathway modulation.

Molecular signatures of altered energy metabolism and circadian rhythm perturbations in a model of extra-nigral Synucleinopathy.

This study uses spatial transcriptomics to analyze aSyn pathology in mice, revealing metabolic and circadian disruptions at different stages of disease progression.

Bradykinesia and postural instability in a model of prodromal Synucleinopathy with alpha-Synuclein aggregation in the gigantocellular nuclei.

This study induces alpha-Synuclein aggregation in the gigantocellular nuclei of transgenic mice to model prodromal Parkinson's disease and observe motor symptom progression.

In vivo evidence that SORL1, encoding the endosomal recycling receptor SORLA, can function as a causal gene in Alzheimer's Disease

This study shows that SORL1 haploinsufficiency in pigs mimics early AD biomarker changes without neurodegeneration, supporting its role as a causal gene in Alzheimer's disease.

Uncovering the Genetic Profiles Underlying the Intrinsic Organization of the Human Cerebellum

The paper identifies 443 network-specific genes in the human cerebellum and links their co-expression patterns to intra-cerebellar functional connectivity, revealing gene subsets related to neurodevelopment and neurotransmission.

α-Synuclein pathology in Parkinson disease activates homeostatic NRF2 anti-oxidant response

The paper shows that α-synuclein pathology in Parkinson's disease activates the NRF2 anti-oxidant response, suggesting it could be a therapeutic target.

The neurobiology of BRD1 implicates sex-biased dysregulation of nuclear receptor signaling in mental disorders

This study investigates the role of BRD1 in sex-biased nuclear receptor signaling and its implications in mental disorders using mouse models and gene expression analysis.