title: SUMO and its role in human diseases.
abstract: The covalent attachment of small ubiquition-like modifier (SUMO) polypeptides, or sumoylation, is an important regulator of the functional properties of many proteins. Among these are many proteins implicated in human diseases including cancer and Huntington's, Alzheimer's, and Parkinson's diseases, as well as spinocerebellar ataxia 1 and amyotrophic lateral sclerosis. The results of two more recent studies identify two additional human disease-associated proteins that are sumoylated, amyloid precursor protein (APP), and lamin A. APP sumoylation modulates Aβ peptide levels, suggesting a potential role in Alzheimer's disease, and decreased lamin A sumoylation due to mutations near its SUMO site has been implicated in causing some forms of familial dilated cardiomyopathy.
authors.affiliation: Department of Molecular and Cellular Biochemistry, University of Kentucky, Lexington, Kentucky, USA.
authors.forename: Kevin D
authors.initials: KD
authors.lastname: Sarge
authors.forename: Ok-Kyong
authors.initials: OK
authors.lastname: Park-Sarge
mesh_terms: D016564:Amyloid beta-Protein Precursor / Q000235:genetics / Q000378:metabolism; D000818:Animals; D000067696:Ataxin-1; D000067528:Ataxins; D004194:Disease; D006801:Humans; D000071058:Huntingtin Protein; D047908:Intracellular Signaling Peptides and Proteins / Q000378:metabolism; D009369:Neoplasms / Q000378:metabolism / Q000503:physiopathology*; D009419:Nerve Tissue Proteins / Q000378:metabolism; D019636:Neurodegenerative Diseases / Q000378:metabolism / Q000503:physiopathology*; D009687:Nuclear Proteins / Q000378:metabolism; D015513:Oncogene Proteins / Q000378:metabolism; D000071617:Protein Deglycase DJ-1; D025841:Small Ubiquitin-Related Modifier Proteins / Q000235:genetics / Q000378:metabolism*; D058207:Sumoylation; D013482:Superoxide Dismutase / Q000378:metabolism; D000072105:Superoxide Dismutase-1; D051844:alpha-Synuclein / Q000378:metabolism; D016875:tau Proteins / Q000378:metabolism
chemical_list: C000593749:ATXN1 protein, human; D016564:Amyloid beta-Protein Precursor; D000067696:Ataxin-1; D000067528:Ataxins; C086055:HTT protein, human; D000071058:Huntingtin Protein; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D015513:Oncogene Proteins; C000606290:SOD1 protein, human; D025841:Small Ubiquitin-Related Modifier Proteins; D051844:alpha-Synuclein; D016875:tau Proteins; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1; C105131:PARK7 protein, human; D000071617:Protein Deglycase DJ-1