Nobuyuki Shimozawa - Publications, H-index & Citations

Nobuyuki Shimozawa

Gifu University

45H指数

277论文数

7.1K被引数

收录论文 63

发表时间

Correction: Hemizygous loss-of-function variants of EIF1AX are associated with a syndromic neurodevelopmental disorder 校正：EIF1AX基因半合子失活型变异与综合征性神经发育障碍相关

European Journal of Human Genetics

IF4.6

2026-09-11

PREAI

Kazuyuki Komatsu; Atsushi Sugie; Yohei Nitta; Jiro Osaka; Ummul Halilunnisa Mansoor Hussain; Mitsuru Kubota; Nobuyuki Shimozawa; Melissa T. Carter; Petra J. G. Zwijnenburg; Quinten Waisfisz; Felix Boschann; Denise Horn; Mitsuko Nakashima; Hirotomo Saitsu

QUALITY OF LIFE RESEARCH

IF2.7

2024-09-04

OAAI

Konomura, Keiko; Numakura, Chikahiko; Nakamura-Utsunomiya, Akari; Hoshino, Eri; Tajima, Go; Kobayashi, Hironori; Nakamura, Kimitoshi; Shimozawa, Nobuyuki; Bo, Ryosuke; Shiroiwa, Takeru; Shigematsu, Yosuke; Fukuda, Takashi

PEX12, the pathogenic gene of group III Zellweger syndrome:: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of Pex12p

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-28

OAAI

Okumoto, K; Shimozawa, N; Kawai, A; Tamura, S; Tsukamoto, T; Osumi, T; Moser, H; Wanders, RJA; Suzuki, Y; Kondo, N; Fujiki, Y

Hypomorphic mutation of PEX3 with peroxisomal mosaicism reveals the oscillating nature of peroxisome biogenesis coupled with differential metabolic activities

MOLECULAR GENETICS AND METABOLISM

IF3.5

2022-09-01

OAAI

Takashima, Shigeo; Fujita, Haruka; Toyoshi, Kayoko; Ohba, Akiko; Hirata, Yoko; Shimozawa, Nobuyuki; Oh-hashi, Kentaro

Advanced Diagnostic System and Introduction of Newborn Screening of Adrenoleukodystrophy and Peroxisomal Disorders in Japan

INTERNATIONAL JOURNAL OF NEONATAL SCREENING

IF4

2021-08-25

OAAI

Shimozawa, Nobuyuki; Takashima, Shigeo; Kawai, Hiroki; Kubota, Kazuo; Sasai, Hideo; Orii, Kenji; Ogawa, Megumi; Ohnishi, Hidenori

Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-07-01

PREAI

Koto, Yuta; Sakai, Norio; Lee, Yoko; Kakee, Naoko; Matsuda, Junko; Tsuboi, Kazuya; Shimozawa, Nobuyuki; Okuyama, Torayuki; Nakamura, Kimitoshi; Narita, Aya; Kobayashi, Hiroshi; Uehara, Ritei; Nakamura, Yoshikazu; Kato, Koji; Eto, Yoshikatsu

Zebrafish model of human Zellweger syndrome reveals organ-specific accumulation of distinct fatty acid species and widespread gene expression changes

MOLECULAR GENETICS AND METABOLISM

IF3.5

2021-07-01

OAAI

Takashima, Shigeo; Takemoto, Shoko; Toyoshi, Kayoko; Ohba, Akiko; Shimozawa, Nobuyuki

Positional determination of the carbon-carbon double bonds in unsaturated fatty acids mediated by solvent plasmatization using LC-MS

SCIENTIFIC REPORTS

IF3.9

2020-07-31

OAAI

Takashima, Shigeo; Toyoshi, Kayoko; Yamamoto, Takuhei; Shimozawa, Nobuyuki

Hexacosenoyl-CoA is the most abundant very long-chain acyl-CoA in ATP binding cassette transporter D1-deficient cells

JOURNAL OF LIPID RESEARCH

IF4.1

2020-04-01

OAAI

Hama, Kotaro; Fujiwara, Yuko; Takashima, Shigeo; Hayashi, Yasuhiro; Yamashita, Atsushi; Shimozawa, Nobuyuki; Yokoyama, Kazuaki

Biallelic mutation of HSD17B4 induces middle age-onset spinocerebellar ataxia

NEUROLOGY-GENETICS

IF3.7

2020-02-01

OAAI

Matsuda, Yukiko; Morino, Hiroyuki; Miyamoto, Ryosuke; Kurashige, Takashi; Kume, Kodai; Mizuno, Noriyoshi; Kanaya, Yuhei; Tada, Yui; Ohsawa, Ryosuke; Yokota, Kazunori; Shimozawa, Nobuyuki; Maruyama, Hirofumi; Kawakami, Hideshi

Highly asymmetric and subacutely progressive motor weakness with unilateral T2-weighted high intensities along the pyramidal tract in the brainstem in adrenomyeloneuropathy

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2017-10-01

PREAI

Tsuboi, Takashi; Tanaka, Yasuhiro; Yoshida, Yusuke; Nakamura, Tomohiko; Shimozawa, Nobuyuki; Katsuno, Masahisa

Ataxic form of autosomal recessive PEX10-related peroxisome biogenesis disorders with a novel compound heterozygous gene mutation and characteristic clinical phenotype

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2017-04-01

PREAI

Yamashita, Toru; Mitsui, Jun; Shimozawa, Nobuyuki; Takashima, Shigeo; Umemura, Hiroshi; Sato, Kota; Takemoto, Mami; Hishikawa, Nozomi; Ohta, Yasuyuki; Matsukawa, Takashi; Ishiura, Hiroyuki; Yoshimura, Jun; Doi, Koichiro; Morishita, Shinichi; Tsuji, Shoji; Abe, Koji

Detection of unusual very-long-chain fatty acid and ether lipid derivatives in the fibroblasts and plasma of patients with peroxisomal diseases using liquid chromatography-mass spectrometry

MOLECULAR GENETICS AND METABOLISM

IF3.5

2017-03-01

PREAI

Takashima, Shigeo; Toyoshi, Kayoko; Itoh, Takahiro; Kajiwara, Naomi; Honda, Ayako; Ohba, Akiko; Takemoto, Shoko; Yoshida, Satoshi; Shimozawa, Nobuyuki

Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease

PEDIATRICS

IF6.4

2016-06-01

PREAI

Matsunami, Masatoshi; Shimozawa, Nobuyuki; Fukuda, Akinari; Kumagai, Tadayuki; Kubota, Masaya; Chong, Pin Fee; Kasahara, Mureo

Association between drusen and blood test results in a colony of 74 monkeys

ACTA OPHTHALMOLOGICA

IF2.8

2015-09-23

OAAI

Nishiguchi, K.; Yokoyama, Y.; Fujii, Y.; Furukawa, T.; Ono, F.; Shimozawa, N.; Togo, M.; Suzuki, M.; Nakazawa, T.

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan

NEUROLOGY

IF8.5

2014-02-25

PREAI

Yamada, Megumi; Tanaka, Masaki; Takagi, Mari; Kobayashi, Seiju; Taguchi, Yoshiharu; Takashima, Shutaro; Tanaka, Kortaro; Touge, Tetsuo; Hatsuta, Hiroyuki; Murayama, Shigeo; Hayashi, Yuichi; Kaneko, Masayuki; Ishiura, Hiroyuki; Mitsui, Jun; Atsuta, Naoki; Sobue, Gen; Shimozawa, Nobuyuki; Inuzuka, Takashi; Tsuji, Shoji; Hozumi, Isao

Tysnd1 Deficiency in Mice Interferes with the Peroxisomal Localization of PTS2 Enzymes, Causing Lipid Metabolic Abnormalities and Male Infertility

PLOS GENETICS

IF3.7

2013-02-14

OAAI

Mizuno, Yumi; Ninomiya, Yuichi; Nakachi, Yutaka; Iseki, Mioko; Iwasa, Hiroyasu; Akita, Masumi; Tsukui, Tohru; Shimozawa, Nobuyuki; Ito, Chizuru; Toshimori, Kiyotaka; Nishimukai, Megumi; Hara, Hiroshi; Maeba, Ryouta; Okazaki, Tomoki; Alodaib, Ali Nasser Ali; Al Amoudi, Mohammed; Jacob, Minnie; Alkuraya, Fowzan S.; Horai, Yasushi; Watanabe, Mitsuhiro; Motegi, Hiromi; Wakana, Shigeharu; Noda, Tetsuo; Kurochkin, Igor V.; Mizuno, Yosuke; Schoenbach, Christian; Okazaki, Yasushi

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

JOURNAL OF LIPID RESEARCH

IF4.1

2012-04-01

OAAI

Kanzawa, Noriyuki; Shimozawa, Nobuyuki; Wanders, Ronald J. A.; Ikeda, Kazutaka; Murakami, Yoshiko; Waterham, Hans R.; Mukai, Satoru; Fujita, Morihisa; Maeda, Yusuke; Taguchi, Ryo; Fujiki, Yukio; Kinoshita, Taroh

Induction of peroxisomal lipid metabolism in mice fed a high-fat diet

MOLECULAR MEDICINE REPORTS

IF3.5

2011-08-17

OAAI

Kozawa, Sach; Honda, Ayako; Kajiwara, Naomi; Takemoto, Yasuhiko; Nagase, Tomoko; Nikami, Hideki; Okano, Yukio; Nakashima, Shigeru; Shimozawa, Nobuyuki

Rapid UPLC-MS/MS method for routine analysis of plasma pristanic, phytanic, and very long chain fatty acid markers of peroxisomal disorders

JOURNAL OF LIPID RESEARCH

IF4.1

2008-08-01

OAAI

Al-Dirbashi, Osama Y.; Santa, Tomofumi; Rashed, Mohamed S.; Al-Hassnan, Zuhair; Shimozawa, Nobuyuki; Chedrawi, Aziza; Jacob, Minnie; Al-Mokhadab, Manhal

研究方向