Mutations that disrupt PHOXB interaction with the neuronal calcium sensor HPCAL1 impede cellular differentiation in neuroblastoma

Heterozygous germline mutations in PHOX2B , a transcriptional regulator of sympathetic neuronal differentiation, predispose to diseases of the sympathetic nervous system, including neuroblastoma and congenital central hypoventilation syndrome (CCHS). Although the PHOX2B variants in CCHS largely invo...

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Veröffentlicht in:	Oncogene 2014-06, Vol.33 (25), p.3316-3324
Hauptverfasser:	Wang, W, Zhong, Q, Teng, L, Bhatnagar, N, Sharma, B, Zhang, X, Luther, W, Haynes, L P, Burgoyne, R D, Vidal, M, Volchenboum, S, Hill, D E, George, R E
Format:	Artikel
Sprache:	eng
Schlagworte:	631/136/142 631/208/737 631/67/1922 Alanine Apoptosis Axonogenesis C-Terminus Calcium Calcium - metabolism Cancer Cell Biology Cell differentiation Cell Differentiation - genetics Cell Line Cell Line, Tumor Cell Nucleus - genetics Cell Nucleus - metabolism Cytoplasm Cytoplasm - genetics Cytoplasm - metabolism Development and progression Frameshift mutation Gene expression Gene mutations Genetic aspects HEK293 Cells Homeodomain Proteins - genetics Homeodomain Proteins - metabolism Human Genetics Humans Hypoventilation Identification and classification Internal Medicine Localization Malignancy Medicine Medicine & Public Health Mutants Mutation Neuroblastoma Neuroblastoma - genetics Neuroblastoma - metabolism Neuroblastoma - pathology Neuroblastoma cells Neurocalcin - genetics Neurocalcin - metabolism Neurons Nuclear transport Oncology original-article Peptides - genetics Peptides - metabolism Phox2b protein Polyalanine Promoter Regions, Genetic Protein Binding Protein interaction Protein Interaction Maps Proteins Sympathetic nerves Sympathetic nervous system Transcription Transcription Factors - genetics Transcription Factors - metabolism Transcriptional Activation Tumors
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