Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency-Reference-Cited by-同舟云学术

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

Published:2014-01-30 Issue:3 Volume:6 Page:299-306
ISSN:1757-4676
Container-title:EMBO Molecular Medicine
language:en
Short-container-title:EMBO Mol Med

Author:

Argente Jesús¹²³,Flores Raquel⁴⁵⁶,Gutiérrez‐Arumí Armand⁴⁵⁶,Verma Bhupendra⁷,Martos‐Moreno Gabriel Á¹²³,Cuscó Ivon⁴⁵⁶,Oghabian Ali⁷,Chowen Julie A¹²³,Frilander Mikko J⁷,Pérez‐Jurado Luis A⁴⁵⁶

Affiliation:

1. Departments of Endocrinology and Pediatrics Hospital Infantil Universitario Niño Jesús Universidad Autónoma de Madrid Madrid Spain

2. Instituto de Investigación La Princesa Madrid Spain

3. Centro de Investigación Biomédica en Red de Fisiopatología de la Obesidad y Nutrición (CIBEROBN) Madrid Spain

4. Genetics Unit Universitat Pompeu Fabra Barcelona Spain

5. Instituto de Investigación Hospital del Mar (IMIM) Barcelona Spain

6. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Barcelona Spain

7. Institute of Biotechnology University of Helsinki Helsinki Finland

Publisher

EMBO

Subject

Molecular Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/emmm.201303573

Reference23 articles.

1. U12DB: a database of orthologous U12-type spliceosomal introns

2. The U11/U12 snRNP 65K protein acts as a molecular bridge, binding the U12 snRNA and U11-59K protein

3. Amino Acid Properties and Consequences of Substitutions

4. Impaired minor tri-snRNP assembly generates differential splicing defects of U12-type introns in lymphoblasts derived from a type I SMA patient

5. RNA and Disease

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