Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Deciphering the role of malin in the lafora progressive myoclonus epilepsy

(2012) Carlos Romá-Mateo et al.   IUBMB LIFE

LUBAC, a novel ubiquitin ligase for linear ubiquitination, is crucial for inflammation and immune responses

(2012) Fuminori Tokunaga et al.   MICROBES AND INFECTION

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

(2011) Fumiyo Ikeda et al.   NATURE

Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis

(2011) Jaiprakash Sharma et al.   NEUROBIOLOGY OF DISEASE

Sipl1 and Rbck1 Are Novel Eya1-Binding Proteins with a Role in Craniofacial Development

(2010) K. Landgraf et al.   MOLECULAR AND CELLULAR BIOLOGY

Glycogenin-1 Deficiency and Inactivated Priming of Glycogen Synthesis

(2010) Ali-Reza Moslemi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis

(2008) Molly E. McCue et al.   GENOMICS

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings

(2008) Benedikt Schoser et al.   MOLECULAR GENETICS AND METABOLISM