Missense mutations in the nuclear-encoded adenine nucleotide translocase 1 (Ant1) cause the protein to clog the mitochondrial protein import pathway, to severely inhibit cell growth in yeast, and to cause neurodegeneration and myopathy in mice that phenocopy ANT1-induced human disease.

Malaria remodels the spleen to imprint tolerance and reduce pathology in subsequent infections.

RNF213 is a giant E3 ligase with a dynein-like core and a unique ubiquitination mechanism that proceeds in a RING-independent manner and is linked with the Moyamoya disease.

Idiopathic patients along a complex motor neuron disease-dementia spectrum exhibit mRNA splicing changes that are due to multi-protein insolubility.

Structural and biochemical data suggest a mechanism for the Synaptojanin1-catalysed reaction and the role of mutations in the onset of associated neurological diseases.

Identification of causal genes and their effects on other biological determinants untangles the complexities of aging and Alzheimer's and can facilitate drug discovery for sustaining healthy aging and treating Alzheimer's.

The structure of human PINK1 explains structural regulation and clarity on the impact of loss of function disease-associated mutations, which may stimulate future drug discovery efforts for both familial and idiopathic Parkinson's disease.

Increased excitation and decreased inhibition associated with abnormal neuronal morphology, aberrant ion channel properties, and synaptic dysfunction contribute to hyperexcitability in Alzheimer’s disease hiPSC-derived neuronal cultures and cerebral organoids.

RAI1 regulates molecular signalling and intrinsic excitability of hypothalamic brain-derived neurotrophic factor neurons important for energy homeostasis.

Disease-associated mutants of the TRPM3 ion channel are overactive, and they are inhibited by the antiepileptic medication primidone, offering a potential therapeutic intervention to treat this channelopathy.