TY - JOUR
T1 - Joseph disease
T2 - Protein patterns in fibroblasts and brain
AU - Rosenberg, R. N.
AU - Thomas, L.
AU - Baskin, F.
AU - Kirkpatrick, J.
AU - Bay, C.
AU - Nyhan, W. L.
PY - 1979/7
Y1 - 1979/7
N2 - The separation of brain and fibroblast proteins was analyzed on two-dimensional acrylamide gels. Proteins were examined from skin fibroblast cultures and brain homogenates from the frontal cerebral cortex, putamen, and cerebellum. Protein species from skin fibroblast cultures of controls and patients with Joseph disease or Huntington disease were not significantly different. The proteins from homogenates of the cerebral cortex, putamen, and cerebellum from controls differed from those of one Joseph disease patient. Two major classes of proteins were increased in the patient's putamen and cerebellum. Proteins of 40,000 and 50,000 daltons-including the glial filamentous acidic protein complex (molecular weight 50,000), and two proteins which migrated near actin-were increased in the cerebellum. The glial filamentous acidic protein complex increased 3.7-fold in the putamen of the patient. These protein changes probably represent gliosis, but may also be an expression of the primary genetic mutation.
AB - The separation of brain and fibroblast proteins was analyzed on two-dimensional acrylamide gels. Proteins were examined from skin fibroblast cultures and brain homogenates from the frontal cerebral cortex, putamen, and cerebellum. Protein species from skin fibroblast cultures of controls and patients with Joseph disease or Huntington disease were not significantly different. The proteins from homogenates of the cerebral cortex, putamen, and cerebellum from controls differed from those of one Joseph disease patient. Two major classes of proteins were increased in the patient's putamen and cerebellum. Proteins of 40,000 and 50,000 daltons-including the glial filamentous acidic protein complex (molecular weight 50,000), and two proteins which migrated near actin-were increased in the cerebellum. The glial filamentous acidic protein complex increased 3.7-fold in the putamen of the patient. These protein changes probably represent gliosis, but may also be an expression of the primary genetic mutation.
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U2 - 10.1212/wnl.29.7.917
DO - 10.1212/wnl.29.7.917
M3 - Article
C2 - 572941
AN - SCOPUS:0018356291
SN - 0028-3878
VL - 29
SP - 917
EP - 926
JO - Neurology
JF - Neurology
IS - 7
ER -