Ichizo NISHINO, MD, PhD

Board Certification: Japanese Society of Neurology, Japanese Society of Internal Medicine, Japanese Society of Human Genetics, Japanese Society of Neuropathology
Corresponding Fellow of American Academy of Neurology (FAAN)
Corresponding Fellow of American Neurological Association (FANA)

Profile

Born in Kyoto. Graduated from Kyoto University Medical School in1989. Trained in neurology in several hospitals including Wakayama Red Cross Hospital and Tokyo Metropolitan Neurological Hospital. Started muscle disease research at Department of Ultrastructural Research, National Institute of Neuroscience (NIN), NCNP in1994. Post-doctoral research at Columbia University in 1998-2000. Section Chief in Department of Ultrastructural Research, NIN in 2000. Director, Department of Nueromuscular Research, NIN in 2001. Co-appointed as Director of Departments of Genome Medicine Development and Clinical Genome Analysis in 2015. Guest/Visiting Professor at University of Yamanashi, Siriraj Hospital, Mahidol University (Thailand), Peking University First Hospital (China), Kaohsiung Medical University (Taiwan), and College of Medicine, Fu Jen Catholic University (Taiwan).

Associate Editor in Neuromuscular Disorders. Editorial Board member in several international journals including Therapeutic Advances in Neurological Disorders and Journal of the Neurological Sciences. President of Asian Oceanian Myology Center (AOMC). Trustee in World Muscle Society, Japanese Society of Neurology, Japanese Muscle Society, Japanese Society of Neuropathology, and Japanese Society of Neurological Therapeutics. Corresponding Fellow of American Academy of Neurology (FAAN), and American Neurological Association (FANA). Advisor for Patients Association for Distal Myopathies. Japan Cardiovascular Research Foundation Award in 2002. Japanese Society of Neurology Award in 2009.

Interest / Interest theme

Elucidation of pathomechanism of and development of therapy for various muscle diseases including muscular dystrophies, myopathies, and myositides.

Publications

1. 1. Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.
   Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
   Nat Genet. 2019 Aug;51(8):1222-1232.
2. Fugier C, Klein AF, Hammer C, Vassilopoulos S, Ivarsson Y, Toussaint A, Tosch V, Vignaud A, Ferry A, Messaddeq N, Kokunai Y, Tsuburaya R, de la Grange P, Dembele D, Francois V, Precigout G, Boulade-Ladame C, Hummel MC, de Munain AL, Sergeant N, Laquerriere A, Thibault C, Deryckere F, Auboeuf D, Garcia L, Zimmermann P, Udd B, Schoser B, Takahashi MP, Nishino I, Bassez G, Laporte J, Furling D, Charlet-Berguerand N.
   Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy.
   Nat Med. 2011 Jun;17(6):720-5.
3. Iwabu M, Yamauchi T, Okada-Iwabu M, Sato K, Nakagawa T, Funata M, Yamaguchi M, Namiki S, Nakayama R, Tabata M, Ogata H, Kubota N, Takamoto I, Hayashi YK, Yamauchi N, Waki H, Fukayama M, Nishino I, Tokuyama K, Ueki K, Oike Y, Ishii S, Hirose K, Shimizu T, Touhara K, Kadowaki T.
   Adiponectin and AdipoR1 regulate PGC-1alpha and mitochondria by Ca2+ and AMPK/SIRT1.
   Nature. 2010 Apr 29;464(7293):1313-9. Epub 2010 Mar 31.
4. Malicdan MC, Noguchi S, Hayashi YK, Nonaka I, Nishino I.
   Prophylactic treatment with sialic acid metabolites precludes the development of the myopathic phenotype in the DMRV-hIBM mouse model.
   Nat Med. 2009 Jun;15(6):690-5.
5. Fukami M, Wada Y, Okada M, Nishino I, Hasegawa T, Camerino G, Kretz C, Buj-Bello A, Laporte J, Yamada G, Morohashi K, Ogata T.
   CXorf6 is a causative gene for hypospadias.
   Nat Genet. 2006 Dec;38(12):1369-71. Epub 2006 Nov 5.
6. Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP.
   LARGE can functionally bypass alpha-dystroglycan glycosylation defects in distinct congenital muscular dystrophies.
   Nat Med. 2004 Jul;10(7):696-703. Epub 2004 Jun 6.
7. Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kellely RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Posttranslational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies.
   Nature. 2002 Jul 25;418(6896):417-22.
8. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, Mora M, Riggs JE, Oh SJ, Koga Y, Sue CM, Yamamoto A, Murakami N, Shanske S, Byrne E, Bonilla E, Nonaka I, DiMauro S, Hirano M.
   Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).
   Nature. 2000 Aug 24;406(6798):906-10.
9. Papadopoulou LC, Sue CM, Davidson M, Tanji K, Nishino I, Sadlock J, Selby J, Glerum DM, Van Coster R, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA.
   Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a human COX assembly gene.
   Nat Genet. 1999 Nov;23(3):333-7.
10. Nishino I, Spinazzola A, Hirano M.
    Thymidine phosphorylase gene mutations associated with MNGIE, a human mitochondrial disorder.
    Science. 1999 Jan 29;283(5402):689-92.

ReaD & Researchmap reference