BACKGROUND Ribosomopathies are a heterogeneous group of human disorders that are
in some cases known, and in other cases suspected, to result from ribosome dysfunction …

Disruption of cerebral iron regulation appears to have a role in aging and in the
pathogenesis of various neurodegenerative disorders. Possible unfavorable impacts of iron …

Iron is an essential element for the development and functionality of the brain, and
anomalies in its distribution and concentration in brain tissue have been found to be …

Dynamic regulation of mRNA translation initiation and elongation is essential for the survival
and function of neural cells. Global reductions in translation initiation resulting from …

Ribosome stalling during translation has recently been shown to cause neurodegeneration,
yet the signaling pathways triggered by stalled elongation complexes are unknown. To …

A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin
(LTN1/Ltn1) acts in a specialized protein quality control pathway—Ribosome-associated …

Errors during mRNA translation can lead to a reduction in the levels of functional proteins
and an increase in deleterious molecules. Advances in next-generation sequencing have …

The syndromes of neurodegeneration with brain iron accumulation (NBIA) encompass a
group of invalidating and progressive rare diseases that share the abnormal accumulation of …

Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative
disorders, which includes very rare monogenetic diseases. They are heterogeneous in …

Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous
condition characterized by progressive dystonia with iron accumulation in the basal ganglia …