For over three decades, a mainstay and goal of clinical oncology has been the development
of therapies promoting the effective elimination of cancer cells by apoptosis. This …

ATPases associated with diverse cellular activities (AAA+ proteins) are a superfamily of
proteins found throughout all domains of life. The hallmark of this family is a conserved …

The BCL2 family plays important roles in acute myeloid leukemia (AML). Venetoclax, a
selective BCL2 inhibitor, has received FDA approval for the treatment of AML. However …

We used BioID, a proximity-dependent biotinylation assay with 100 mitochondrial baits from
all mitochondrial sub-compartments, to create a high-resolution human mitochondrial …

Background Primary immunodeficiency diseases (PIDDs) are clinically and genetically
heterogeneous disorders thus far associated with mutations in more than 300 genes. The …

Background Developmental disabilities have diverse genetic causes that must be identified
to facilitate precise diagnoses. We describe genomic data from 371 affected individuals, 309 …

Background Whole-exome sequencing (WES) has led to an exponential increase in
identification of causative variants in mitochondrial disorders (MD). Methods We performed …

Seizures are often the key manifestation of neurological diseases caused by pathogenic
mutations in 169 of the genes that have so far been identified to affect mitochondrial …

This review focuses on the classification, diagnosis and natural history of congenital
neutropenia (CN). CN encompasses a number of genetic disorders with chronic neutropenia …

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