New ideas about mechanism in APOL1 kidney disease.

APOL1 kidney disease: a critical narrative review of molecular mechanisms, clinical heterogeneity, and the emerging therapeutic landscape.

Thyroid dysfunction: Another piece in the complex puzzle of Alzheimer's disease?

An expanding body of evidence suggests that thyroid dysfunction may be clinically relevant in Alzheimer's disease (AD), although the significance of this association remains unsettled. Rather than reflecting a single biological pathway, thyroid hormone alterations in AD may involve downstream systemic adaptations relat...

Genetic and molecular evidence linking CTSH to Alzheimer's disease pathophysiology

This work investigated how CTSH is regulated and how it influences early AD pathophysiology, and how it influences early AD pathophysiology.

Alzheimer’s Disease Neurofibrillary Pathophysiology: PTPRD- and Flavonol-Modified Mechanisms, Prevention and Therapeutics

A variety of evidence now supports two interrelated hypotheses concerning Alzheimer’s disease (AD) neurofibrillary pathology (NFT), its prevention and treatment. The first hypothesis: the receptor type protein tyrosine phosphatase D (PTPRD) plays a key role in AD NFT pathogenesis by modulating activities of neuronal gl...

Multiple ABCC8 Loss-of-Function Mutations Associated with Paradoxical Maturity-Onset Diabetes of the Young.

ARTICLE HIGHLIGHTS The effects of 16 ABCC8 variants, previously reported in heterozygous association with maturity-onset diabetes of the young (MODY), some with prior diagnosis of hypersinulinism, were assessed in recombinant Kir6.2/SUR1 KATP channels. Thirteen of 16 variants cause loss-of-function, 3 of 16 have no eff...

Lifelong Genetic Inhibition of PCSK9 and Hepatic Safety

This genetic association study investigates whether the full spectrum of rare PCSK9 loss-of-function variants is associated with incident liver-related outcomes, given the development of therapies targeting proprotein convertase subtilisin/kexin type 9 (PCSK9).