N. Wakamatsu

The effect on pathogenesis of Newcastle Disease Virus LaSota strain from a mutation of the fusion cleavage site to a virulent sequence. (2006)

Wakamatsu, N., King, D., Seal, B.S., Peeters, B.P.H., Brown, C.C.

The principal molecular determinant of virulence of Newcastle disease virus (NDV) is the amino acid sequence at the fusion cleavage activation site. To extend the understanding of the role of the...

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases (1996)

Phaneuf, D, Wakamatsu, N, Huang, JQ, Borowski, A, Peterson, AC, Fortunato, SR, ...

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Leclerc, D, Akerman, B, Wakamatsu, N, Gravel, R A

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of the four biotin-dependent carboxylases in human cells. Patients with HCS deficiency lack activity of all four carboxylases, indicating...

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

McInnes, B, Potier, M, Wakamatsu, N, Melancon, S B, Klavins, M H, Tsuji, S, ...

Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient...

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

Gotoda, Y, Wakamatsu, N, Kawai, H, Nishida, Y, Matsumoto, T

alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a...

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.

Kondo, R, Wakamatsu, N, Yoshino, H, Fukuhara, N, Miyatake, T, Tsuji, S

To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and...

Isolation of a cDNA encoding human holocarboxylase synthetase by functional complementation of a biotin auxotroph of Escherichia coli.

Leclerc, D, Akerman, B, Wakamatsu, N, Gravel, R A

Holocarboxylase synthetase (HCS) catalyzes the biotinylation of the four biotin-dependent carboxylases in human cells. Patients with HCS deficiency lack activity of all four carboxylases, indicating...

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

McInnes, B, Potier, M, Wakamatsu, N, Melancon, S B, Klavins, M H, Tsuji, S, ...

Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta-hexosaminidase (EC 3.2.1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient...

Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis.

Gotoda, Y, Wakamatsu, N, Kawai, H, Nishida, Y, Matsumoto, T

alpha-Mannosidosis is an autosomal recessive lysosomal-storage disorder caused by a deficiency of lysosomal alpha-mannosidase activity. This disease shows a wide range of clinical phenotypes, from a...

Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.

Kondo, R, Wakamatsu, N, Yoshino, H, Fukuhara, N, Miyatake, T, Tsuji, S

To analyze the genetic abnormality in a Japanese patient with adult-type metachromatic leukodystrophy (MLD), we first elucidated the genomic organization of the human arylsulfatase A (ASA) gene and...

Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22–q24.1

Ishihara, N, Yamada, K, Yamada, Y, Miura, K, Kato, J, Kuwabara, N, ...

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

Wakamatsu, N., Hayashi, M., Kawai, H., Kondo, H., Gotoda, Y., Nishida, Y., ...

OBJECTIVES—Mutational analysis of the sterol 27-hydroxylase (CYP27) gene was performed on three patients from two Japanese families who had cerebrotendinous xanthomatosis (CTX) associated with...