Associated Papers
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
Grütz K et al.
Scientific Reports, 2017
Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce.
Yokoi F et al.
Journal of Biochemistry, 2010
Myoclonus-dystonia: significance of large SGCE deletions.
Grünewald A et al.
Human Mutation, 2008
SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
Esapa CT et al.
Human Molecular Genetics, 2007
Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations.
Klein C et al.
Annals of Neurology, 2002
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