Recent advancements in gene supplementation therapy are expanding the options for the
treatment of neurological disorders. Among the available delivery vehicles, adeno …

Mitochondria are dynamic bioenergetic organelles whose maintenance requires around
1500 proteins from two genomes. Mutations in either the mitochondrial or nuclear genome …

Leigh syndrome (LS) is a severe manifestation of mitochondrial disease in children and is
currently incurable. The lack of effective models hampers our understanding of the …

Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in
mitochondrial energy production that usually starts in early childhood. The first description …

Mitochondria are small cellular constituents that generate cellular energy (ATP) by oxidative
phosphorylation (OXPHOS). Dysfunction of these organelles is linked to a heterogeneous …

Mitochondrial diseases (MDs) are a heterogeneous group of disorders resulting from
mutations in nuclear or mitochondrial DNA genes encoding mitochondrial proteins,. MDs …

Primary mitochondrial diseases represent some of the most common and severe inherited
metabolic disorders, affecting~ 1 in 4,300 live births. The clinical and molecular diversity …

The TDP-43 proteinopathies, which include amyotrophic lateral sclerosis and frontotemporal
dementia, are a devastating group of neurodegenerative disorders that are characterized by …

Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by
faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of …

Primary mitochondrial diseases (PMD) refer to a group of severe, often inherited genetic
conditions due to mutations in the mitochondrial genome or in the nuclear genes encoding …