Alternative low-populated conformations prompt phase transitions in polyalanine repeat expansions
R Antón, MÁ Treviño, D Pantoja-Uceda, S Félix… - Nature …, 2024 - nature.com
Abnormal trinucleotide repeat expansions alter protein conformation causing malfunction
and contribute to a significant number of incurable human diseases. Scarce structural …
and contribute to a significant number of incurable human diseases. Scarce structural …
Knockdown of PHOX2B in the retrotrapezoid nucleus reduces the central CO2 chemoreflex in rats
S Cardani, TA Janes, W Betzner, S Pagliardini - Elife, 2024 - elifesciences.org
PHOX2B is a transcription factor essential for the development of different classes of
neurons in the central and peripheral nervous system. Heterozygous mutations in the …
neurons in the central and peripheral nervous system. Heterozygous mutations in the …
Structural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the+ 7Ala variant pathogenicity in CCHS
An expansion of poly-alanine up to+ 13 residues in the C-terminus of the transcription factor
PHOX2B underlies the onset of congenital central hypoventilation syndrome (CCHS) …
PHOX2B underlies the onset of congenital central hypoventilation syndrome (CCHS) …