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

The congenital neutropenia syndromes are rare haematological conditions defined by
impaired myeloid precursor differentiation or function. Patients are prone to severe infections …

Primary ovarian insufficiency (POI) is a heterogeneous disease resulting from non-functional
ovaries in women before the age of 40. It is characterized by primary amenorrhea or …

The mitochondrial ribosome is critical to mitochondrial protein synthesis. Defects in both the
large and small subunits of the mitochondrial ribosome can cause human disease …

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

Premature ovarian insufficiency (POI) is a common cause of infertility in women,
characterised by amenorrhea and elevated FSH under the age of 40 years. In some cases …

Pathogenic ACAD9 variants cause complex I deficiency. Patients presenting in infancy
unresponsive to riboflavin have high mortality. A six-month-old infant presented with …

Protein folding is important for all life. Indeed, protein misfolding can result in catastrophic
protein aggregation and toxicity. The pathways involved in reversing protein aggregation …

Primary ovarian insufficiency (POI), affecting up to 1 in 100 females, is characterized by
oligomenorrhea or amenorrhea with raised gonadotropins and low estradiol. It can result …

Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly
progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and …