Progeroid syndrome

Toth, J.I., et al. (2005). Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci USA 102 12873-12878. 

Moulson, C.L., et al. (2007). Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat 28 882-889. 

George M. Martin, Junko Oshima, Lessons from human progeroid syndromes, Nature, 408 (2000), 263-266. 

Quentin E, Gladen A, Roden L, Kresse H. A genetic defect in the biosynthesis of dermatan sulfate proteoglycan galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. Proc Natl Acad Sci U S A 1990 87 1342-1346. 

Csoka AB, Cao H, Sammak PJ, Constantinescu D, Sehatten GP, Hegele RA (2004) Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet 41 (4) 304-308... 

K. Furukawa, Molecular basis for the progeroid variant of ehlers-danlos syndrome. Identification and characterization of two mutants in galactosyltransferase I gene, J. Biol. Chem. 1999, 274, 28841-28844. 

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