PABPN 1: molecular function and muscle disease
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 …
1) plays key roles in post‐transcriptional processing of RNA. Although PABPN 1 is …
Autophagy contributes to inflammation in patients with TNFR-associated periodic syndrome (TRAPS)
Objectives Tumour necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is
caused by TNFRSF1A mutations, known to induce intracellular retention of the TNFα …
caused by TNFRSF1A mutations, known to induce intracellular retention of the TNFα …
Congenital central hypoventilation syndrome
N Ramanantsoa, J Gallego - Respiratory Physiology & Neurobiology, 2013 - Elsevier
Congenital central hypoventilation syndrome (CCHS) is characterized by hypoventilation
during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases …
during sleep and impaired ventilatory responses to hypercapnia and hypoxemia. Most cases …
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central …
The PHOX2B transcription factor plays a crucial role in autonomic nervous system
development. In humans, heterozygous mutations of the PHOX2B gene lead to congenital …
development. In humans, heterozygous mutations of the PHOX2B gene lead to congenital …
Molecular pathology of polyalanine expansion disorders: new perspectives from mouse models
Disease-causing polyalanine (PA) expansion mutations have been identified in nine genes,
eight of which encode transcription factors (TFs) with important roles in development. In vitro …
eight of which encode transcription factors (TFs) with important roles in development. In vitro …