Associated Papers
ZMPSTE24 missense mutations that cause progeroid diseases decrease prelamin A cleavage activity and/or protein stability.
Spear ED et al.
Disease Models & Mechanisms, 2018
Core Mediator structure at 3.4 Å extends model of transcription initiation complex.
Nozawa K et al.
Nature, 2017
Human ZMPSTE24 disease mutations: residual proteolytic activity correlates with disease severity.
Barrowman J et al.
Human Molecular Genetics, 2012
Mitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.
Rapizzi E et al.
Endocrine-related Cancer, 2012
Human rhinovirus type 14 gain-of-function mutants for oriI utilization define residues of 3C(D) and 3Dpol that contribute to assembly and stability of the picornavirus VPg uridylylation complex.
Shen M et al.
Journal of Virology, 2007
Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis.
Mitchell CL et al.
Molecular Genetics and Metabolism, 2002
The Ess1 prolyl isomerase is linked to chromatin remodeling complexes and the general transcription machinery.
Wu X et al.
The Embo Journal, 2000
Mutations in the leucine zipper motif and sterol-sensing domain inactivate the Niemann-Pick C1 glycoprotein.
Watari H et al.
The Journal of Biological Chemistry, 1999
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