Protein misfolding, aggregation and deposition are common disease mechanisms in many
neurodegenerative diseases including Parkinson’s disease (PD). Accumulation of damaged …

Systematic evaluation of the impact of genetic variants is critical for the study and treatment
of human physiology and disease. While specific mutations can be introduced by genome …

Single gene disorders of the autophagy pathway are an emerging, novel and diverse group
of multisystem diseases in children. Clinically, these disorders prominently affect the central …

Tuberous sclerosis complex (TSC) is a neurodevelopmental disease caused by TSC1 or
TSC2 mutations and subsequent activation of the mTORC1 kinase. Upon mTORC1 activation, …

Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of
erythroid progenitor differentiation, severely curtailing red blood cell production. Because many …

Abstract Changes in protein metabolism are key to disease onset and progression in many
neurodegenerative diseases. As a prime example, in Parkinson’s disease, folding, post-…

Parkinson's disease, like many other neurodegenerative disorders, is characterized by the
progressive accumulation of pathogenic protein species and the formation of intracellular …

Niemann-Pick type C disease (NP-C) is a progressive lysosomal lipid storage disease caused
by mutations in the NPC1 and NPC2 genes. NPC1 is essential for transporting cholesterol …

De novo generation of haematopoietic stem cells from different human pluripotent stem cell
sources remains a high priority for haematology and regenerative medicine. At present, …

The molecular regulation of human hematopoietic stem cell (HSC) maintenance is
therapeutically important, but limitations in experimental systems and interspecies variation have …