(Last updated : 2022-09-14 14:14:40)
  Takanobu Otomo
   Department     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. 2022/07/25 A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome. 
2. 2022/05 Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome. 
3. 2021/05 Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression. 
4. 2020/04 Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex. 
5. 2020/03 Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan. 
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