Human mitochondrial disorders impact tissues with high energetic demands and can be
associated with cardiac muscle disease (cardiomyopathy) and early mortality. However, the …

Misfolded and aggregated proteins build up in neurodegenerative illnesses, which causes
neuronal dysfunction and ultimately neuronal death. In the last few years, there has been a …

Objective Primary mitochondrial diseases (PMDs) are heterogeneous disorders caused by
inherited mitochondrial dysfunction. Classically defined neuropathologically as subacute …

Mitochondria drive apoptosis by releasing pro-apoptotic proteins that promote caspase
activation in the cytosol. The rhomboid protease PARL, an intramembrane cleaving …

Intramembrane‐cleaving peptidases of the rhomboid family regulate diverse cellular
processes that are critical for development and cell survival. The function of the rhomboid …

Cells have evolved specialized protein disaggregases to reverse toxic protein aggregation
and restore protein functionality. In nonmetazoan eukaryotes, the AAA+ disaggregase …

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 …

Severe congenital neutropenia is an inborn disorder of granulopoiesis. Approximately one
third of cases do not have a known genetic cause. Exome sequencing of 104 persons with …

Purpose To investigate monoallelic CLPB variants. Pathogenic variants in many genes
cause congenital neutropenia. While most patients exhibit isolated hematological …

Mitochondria are critical to cellular and organismal health. To prevent damage, mitochondria
have evolved protein quality control machines to survey and maintain the mitochondrial …