Matsuzawa F - Search Results

1

Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance.

Hosoe J, Miya F, Kadowaki H, Fujiwara T, Suzuki K, Kato T, Waki H, Sasako T, Aizu K, Yamamura N, Sasaki F, Kurano M, Hara K, Tanaka M, Ishiura H, Tsuji S, Honda K, Yoshimura J, Morishita S, Matsuzawa F, Aikawa SI, Boroevich KA, Nangaku M, Okada Y, Tsunoda T, Shojima N, Yamauchi T, Kadowaki T. Hosoe J, et al. Among authors: matsuzawa f. Diabetes Res Clin Pract. 2020 Nov;169:108461. doi: 10.1016/j.diabres.2020.108461. Epub 2020 Sep 22. Diabetes Res Clin Pract. 2020. PMID: 32971154

2

Genotype-Structure-Phenotype Correlations of Disease-Associated IGF1R Variants and Similarities to Those of INSR Variants.

Hosoe J, Kawashima-Sonoyama Y, Miya F, Kadowaki H, Suzuki K, Kato T, Matsuzawa F, Aikawa SI, Okada Y, Tsunoda T, Hanaki K, Kanzaki S, Shojima N, Yamauchi T, Kadowaki T. Hosoe J, et al. Among authors: matsuzawa f. Diabetes. 2021 Aug;70(8):1874-1884. doi: 10.2337/db20-1145. Epub 2021 Jun 1. Diabetes. 2021. PMID: 34074726

3

A variant in the RP1L1 gene in a family with occult macular dystrophy in a predicted intrinsically disordered region.

Hiraoka M, Ishikawa A, Matsuzawa F, Aikawa SI, Sakurai A. Hiraoka M, et al. Among authors: matsuzawa f. Ophthalmic Genet. 2020 Dec;41(6):599-605. doi: 10.1080/13816810.2020.1821383. Epub 2020 Sep 17. Ophthalmic Genet. 2020. PMID: 32940107

4

Esterification of side-chain oxysterols by lysosomal phospholipase A2.

Abe A, Hiraoka M, Matsuzawa F, Aikawa SI, Niimura Y. Abe A, et al. Among authors: matsuzawa f. Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Oct;1865(10):158787. doi: 10.1016/j.bbalip.2020.158787. Epub 2020 Aug 8. Biochim Biophys Acta Mol Cell Biol Lipids. 2020. PMID: 32777483

5

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes.

Matsuzawa F, Aikawa S, Doi H, Okumiya T, Sakuraba H. Matsuzawa F, et al. Hum Genet. 2005 Aug;117(4):317-28. doi: 10.1007/s00439-005-1300-5. Epub 2005 May 28. Hum Genet. 2005. PMID: 15924232

6

Structural modeling and mutagenesis of endo-β-N-acetylglucosaminidase from Ogataea minuta identifies the importance of Trp295 for hydrolytic activity.

Kitajima T, Jia Y, Komatsuzaki A, Cui J, Matsuzawa F, Aikawa SI, Gao XD, Chiba Y. Kitajima T, et al. Among authors: matsuzawa f. J Biosci Bioeng. 2018 Feb;125(2):168-174. doi: 10.1016/j.jbiosc.2017.08.014. Epub 2017 Sep 11. J Biosci Bioeng. 2018. PMID: 28903882

7

Three dimensional structural studies of alpha-N-acetylgalactosaminidase (alpha-NAGA) in alpha-NAGA deficiency (Kanzaki disease): different gene mutations cause peculiar structural changes in alpha-NAGAs resulting in different substrate specificities and clinical phenotypes.

Kanekura T, Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Hirabayashi Y, Yoshii N, Fukushige T, Kanzaki T. Kanekura T, et al. Among authors: matsuzawa f. J Dermatol Sci. 2005 Jan;37(1):15-20. doi: 10.1016/j.jdermsci.2004.09.005. Epub 2004 Dec 8. J Dermatol Sci. 2005. PMID: 15619430

8

Novel missense mutations in the human lysosomal sialidase gene in sialidosis patients and prediction of structural alterations of mutant enzymes.

Itoh K, Naganawa Y, Matsuzawa F, Aikawa S, Doi H, Sasagasako N, Yamada T, Kira J, Kobayashi T, Pshezhetsky AV, Sakuraba H. Itoh K, et al. Among authors: matsuzawa f. J Hum Genet. 2002;47(1):29-37. doi: 10.1007/s10038-002-8652-7. J Hum Genet. 2002. PMID: 11829139

9

Molecular pathologies of and enzyme replacement therapies for lysosomal diseases.

Sakuraba H, Sawada M, Matsuzawa F, Aikawa S, Chiba Y, Jigami Y, Itoh K. Sakuraba H, et al. Among authors: matsuzawa f. CNS Neurol Disord Drug Targets. 2006 Aug;5(4):401-13. doi: 10.2174/187152706777950738. CNS Neurol Disord Drug Targets. 2006. PMID: 16918392 Review.

10

Molecular and structural studies of the GM2 gangliosidosis 0 variant.

Sakuraba H, Matsuzawa F, Aikawa S, Doi H, Kotani M, Lin H, Ohno K, Tanaka A, Yamada H, Uyama E. Sakuraba H, et al. Among authors: matsuzawa f. J Hum Genet. 2002;47(4):176-83. doi: 10.1007/s100380200020. J Hum Genet. 2002. PMID: 12166653

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