Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has
created tremendous improvement in achieving an accurate and timely molecular diagnosis …

Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders
characterized by deficits in oxidative phosphorylation (OXPHOS). Primary mitochondrial …

The relevance of molecular mechanisms governing mitochondrial proteostasis to the
differentiation and function of hematopoietic and immune cells is largely elusive. Through …

Context Premature ovarian insufficiency (POI) is a common form of female infertility that
usually presents as an isolated condition but can be part of various genetic syndromes …

CLPB is a mitochondrial intermembrane space AAA+ domain–containing disaggregase.
CLPB mutations are associated with 3-methylglutaconic aciduria and neutropenia; however …

Complexome profiling (CP) is a state-of-the-art approach that combines separation of native
proteins by electrophoresis, size exclusion chromatography or density gradient …

The human AAA+ ATPase CLPB (SKD3) is a protein disaggregase in the mitochondrial
intermembrane space (IMS) and functions to promote the solubilization of various …

In the matrix of bacteria/mitochondria/chloroplasts, Lon acts as the degradation machine for
soluble proteins. In stress periods, however, proteostasis and survival depend on the …

Summary The AAA+ protein, Skd3 (human CLPB), solubilizes proteins in the mitochondrial
intermembrane space, which is critical for human health. Skd3 variants with defective protein …

Complexome profiling (CP) is a powerful tool for systematic investigation of protein
interactors that has been primarily applied to study the composition and dynamics of …