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The ubiquitin/SUMO pathway and radial ray deficiency syndromes
Journal article   Peer reviewed

The ubiquitin/SUMO pathway and radial ray deficiency syndromes

Mohammad M Al-Qattan
Annals of plastic surgery, Vol.70(2), pp.240-245
02/2013
DOI: https://doi.org/10.1097/SAP.0b013e318236452b
PMID: 22395051

Abstract

Genetic Diseases, X-Linked - etiology Genetic Diseases, X-Linked - genetics Genetic Diseases, X-Linked - metabolism Heart Septal Defects, Atrial - etiology Heart Septal Defects, Atrial - genetics Heart Septal Defects, Atrial - metabolism Humans Limb Deformities, Congenital - etiology Limb Deformities, Congenital - genetics Limb Deformities, Congenital - metabolism Radius - abnormalities Radius - metabolism Small Ubiquitin-Related Modifier Proteins - metabolism Syndrome Thumb - abnormalities Transposition of Great Vessels - etiology Transposition of Great Vessels - genetics Transposition of Great Vessels - metabolism Ubiquitin - metabolism
Protein regulation is the function of several pathways and enzyme systems in the human body. One of these pathways is the ubiquitin/SUMO pathway. The author has noted that almost all known syndromes of radial ray deficiency are related to this pathway. In this article, these syndromes are reviewed with special attention to their relationship with the ubiquitin/SUMO pathway. This opens a new insight into the pathogenesis of radial ray deficiency syndromes.

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