Abstract Background Congenital Central Hypoventilation Syndrome (CCHS) is a rare
condition characterized by an alveolar hypoventilation due to a deficient autonomic central …

Recently, there has been an increasing amount of literature published on the effects of 4-
phenylbutyric acid (4-PBA) in various biological systems. 4-PBA is currently used clinically to …

Neurodegenerative diseases, such as Alzheimer's disease Parkinson's disease,
Huntington's disease, and amyotrophic lateral sclerosis, share a common cellular and …

Autophagy is a lysosomal degradation process that evolved as a starvation response in
lower eukaryotes and has gained numerous functions in higher organisms. In animals …

Parkinson's disease (PD) is a paradigmatic example of neurodegenerative disorder with a
critical role of oxidative stress in its etiopathogenesis. Genetic susceptibility factors of PD …

The polyadenosine RNA binding protein polyadenylate‐binding nuclear protein 1 (PABPN
1) plays key roles in post‐transcriptional processing of RNA. Although PABPN 1 is …

Abnormal trinucleotide repeat expansions alter protein conformation causing malfunction
and contribute to a significant number of incurable human diseases. Scarce structural …

Congenital central hypoventilation syndrome (CCHS) is a genetic disorder of
neurodevelopment, with an autosomal dominant transmission, caused by heterozygous …

Abstract The “bedside-to-bench” Congenital Central Hypoventilation Syndrome (CCHS)
research journey has led to increased phenotypic-genotypic knowledge regarding …

Objectives Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is
caused by TNFRSF1A mutations, known to induce intracellular retention of the TNFα …