Faculty Information - Takanobu Otomo

（Last updated : 2024-03-05 17:08:45）

Takanobu Otomo
Department Kawasaki Medical School Kawasaki Medical School, Department of Molecular and Genetic Medicine,

Position Professor

■ Present specialized field

Embryonic medicine and pediatrics, Genetics

■ BooK

1.	2018	Mucolipidoses: clinical features, biochemistry, diagnosis, genetics, treatment, MPS Update
2.	2018	Mucopolysaccharidosis-Plus Syndrome: a new type of mucopolysaccharidosis with severe systemic symptoms, MPS Update
3.	2017	Lysophagy: A Method for Monitoring Lysosomal Rupture Followed by Autophagy-Dependent Recovery., Methods in Molecular Biology

■ Journal

1.	2024/01/09	A case series of Fabry diseases with CKD in Japan.
2.	2023/10/16	A case of Marfanoid-progeroid-lipodystrophy syndrome: experimental proof of skipping exons and escaping nonsense-mediated decay
3.	2023/03/15	A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
4.	2022/09/13	Identification of CUL4A-DDB1-WDFY1 as an E3 ubiquitin ligase complex involved in initiation of lysophagy
5.	2022/09/12	Changes in serum antibody titers after vaccination for COVID-19 and evaluation of post-vaccination health conditions
6.	2022/07/25	A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
7.	2022/05	Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
8.	2021/05	Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
9.	2020/04	Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
10.	2020/03	Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan.
11.	2020/01	Mucopolysaccharidosis-Plus Syndrome.
12.	2019/01	Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
13.	2018	A brain-enriched Drp1 isoform associates with lysosomes, late endosomes, and the plasma membrane
14.	2018	Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type
15.	2017	Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
16.	2017	Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
17.	2016	Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
18.	2016	Challenge of phenotype estimation for optimal treatment of Krabbe disease.
19.	2016	Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
20.	2015	Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions.
21.	2014	Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
22.	2013	14-3-3e Gene Variants in a Japanese Patient with Left Ventricular Noncompaction and Hypoplasia of the Corpus Callosum.
23.	2013	An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.
24.	2013	Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
25.	2012	Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts.
26.	2012	Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan.
27.	2011	Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
28.	2011	Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts.
29.	2011	Pathology of the first autopsy case diagnosed as mucolipidosis type III a/b suggesting autophagic dysfunction.
30.	2011	SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
31.	2009	Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
32.	2009	Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
33.	2001	EBV replicon vector system enhances transgene expression in vivo: applications to cancer gene therapy.
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