Mitochondrial diseases are a genetically and phenotypically variable set of monogenic
disorders. The main characteristic of mitochondrial diseases is a defective oxidative …

Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the
most severe metabolic diseases, manifesting as early-onset mitochondrial encephalo …

Background Protein synthesis is a tightly controlled process, involving a host of translation‐
initiation factors and microRNA‐associated repressors. Variants in the translational regulator …

Purpose ATP2B2 encodes the variant-constrained plasma-membrane calcium-transporting
ATPase-2, expressed in sensory ear cells and specialized neurons. ATP2B2/Atp2b2 …

The mitochondrial ribosome (mitoribosome) synthesizes 13 protein subunits of the oxidative
phosphorylation system encoded by the mitochondrial genome. The mitoribosome is …

Parkinson's disease is a neurodegenerative disease that is characterized by the loss of
dopaminergic neurons. Fucoidan, which has emerged as a neuroprotective agent, is a …

Abstract ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the
mitochondrial respiratory chain. Pathogenic variants in nuclear genes encoding assembly …

The ability to sequence entire exomes and genomes has revolutionized molecular testing in
rare movement disorders, and genomic sequencing is becoming an integral part of routine …

In a recent article published in Brain, Dong and colleagues 1 reported on a new cohort of
eight Chinese patients primarily affected by sensory neuropathy with an onset age of …

Four decades of research highlighted a significant role for mitochondrial dysfunction in the
pathogenesis of movement disorders. A first milestone was set by the discovery that the …