Together with colleagues from Stanford University, USA, researchers at the Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) have, for the first time, created a comprehensive cell ...

Cell-type resolved protein atlas of brain lysosomes identifies SLC45A1-associated disease as a lysosomal disorder. Ali Ghoochani, Julia C. Heiby, Eshaan S. Rawat, Uche N. Medoh, Domenico Di Fraia, ...

PPT1 is a recombinant protein used to treat an ultra-rare disease called Batten disease CLN1 for which there is ...

Researchers at Kumamoto University have demonstrated that iron supplementation can significantly alleviate muscle pathology ...

Illinois couple Megan Kempf and Kyle are parents to Poppy, 9, and Oliver, 2, who suffer from a dementia-like condition called ...

Familial Hypobetalipoproteinemia (FHBL), caused by variants in the apolipoprotein B (APOB) gene, is a rare autosomal ...

Researchers at Kumamoto University have demonstrated that iron supplementation can significantly alleviate muscle pathology and functional decline in a mouse model of facioscapulohumeral muscular ...

Dementia is usually linked to ageing, but a Glasgow father recounts the shock of his four-year-old daughter’s diagnosis. Childhood dementia, caused by rare genetic disorders, affects one in 2,900 ...

For the first time, scientists have answered a longstanding question in cell biology about a partnership of proteins called the "KICSTOR–GATOR1 complex" which operates as a control system inside our ...