-transparent.png){kind=logo}
Sphingomyelinase activity in cultured skin fibroblasts from a fetus affected with infantile-type Niemann-Pick disease was 0.5% of control activity; the activities in cells from two patients with adult-type disease (Cases 2 and 3) were 5.0% and 59.0%. Sphingomyelinase activiy was separated into three peaks (I-III) by isoelectric focusing. The isoelectric points were 4.5, 4.9, and 5.2 for peaks I, II, and III, respectively. The three peaks in the Case 2 cells were drastically reduced; only a very small peak could be distinguished (pI of 4.7). On the other hand, three peaks were observed in the Case 3 cells. Peak I had a pI of 4.4, peak II a pI of 4.7, and peak III a pI of 5.2. Peak I was found at near normal level, but both peaks II and III were markedly reduced. Sphingomyelinase in the peak I fraction obtained from isoelectric focusing in Case 3 cells was found to have the same Km value as that in control cells.
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
October 1983,
Clinical genetics,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
January 1985,
Biochemical and biophysical research communications,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
August 1977,
FEBS letters,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
April 1986,
The Tohoku journal of experimental medicine,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
September 1981,
Biochemical and biophysical research communications,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
January 1978,
American journal of medical genetics,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
January 1987,
Journal of inherited metabolic disease,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
January 1989,
Biochemistry and cell biology = Biochimie et biologie cellulaire,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
June 2004,
Brain & development,
R Minami, and
Y Matsuura, and
F Nakamura, and
T Kudoh, and
H Sogawa, and
K Oyanagi, and
K Sukegawa, and
T Orii, and
K Maruyama, and
T Nakao
January 1993,
Indian journal of pediatrics,
