Human molecular genetics

The progranulin cleavage product granulin 3 exerts a dominant negative effect on animal fitness.

High-throughput CRISPRi and CRISPRa technologies in 3D genome regulation for neuropsychiatric diseases.

Cellular and behavioral effects of altered NaV1.2 sodium channel ion permeability in Scn2aK1422E mice.

Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2.

Frontotemporal dementia nonsense mutation of progranulin rescued by aminoglycosides.

Bioenergetic deficits in Huntington's disease iPSC-derived neural cells and rescue with glycolytic metabolites.

Tau/MAPT disease-associated variant A152T alters tau function and toxicity via impaired retrograde axonal transport.

Tauopathy-Associated PERK Alleles are Functional Hypomorphs that Increase Neuronal Vulnerability to ER Stress.

Gene regulation in the 3D genome.

Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma.

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