Present specialized field
（Last updated : 2022-09-14 14:14:40）
Kawasaki Medical School, Department of Molecular and Genetic Medicine,
Present specialized field
Embryonic medicine and pediatrics, Genetics
Mucolipidoses: clinical features, biochemistry, diagnosis, genetics, treatment, MPS Update
Mucopolysaccharidosis-Plus Syndrome: a new type of mucopolysaccharidosis with severe systemic symptoms, MPS Update
Lysophagy: A Method for Monitoring Lysosomal Rupture Followed by Autophagy-Dependent Recovery., Methods in Molecular Biology
A novel nonsense variant in ARID1B causing simultaneous RNA decay and exon skipping is associated with Coffin-Siris syndrome.
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Mucolipidosis Ⅱ and III with neurological symptoms due to spinal cord compression.
Biallelic VPS35L pathogenic variants cause 3C/Ritscher-Schinzel-like syndrome through dysfunction of retriever complex.
Starvation-induced autophagy via calcium-dependent TFEB dephosphorylation is suppressed by Shigyakusan.
Novel neuroblastoma amplified sequence (NBAS) mutations in a Japanese boy with fever-triggered recurrent acute liver failure.
A brain-enriched Drp1 isoform associates with lysosomes, late endosomes, and the plasma membrane
Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type
Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement.
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Autophagosome-lysosome fusion in neurons requires INPP5E, a protein associated with Joubert syndrome.
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions.
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
14-3-3e Gene Variants in a Japanese Patient with Left Ventricular Noncompaction and Hypoplasia of the Corpus Callosum.
An adult patient with mucolipidosis III alpha/beta presenting with parkinsonism.
Decreased bone formation and increased osteoclastogenesis cause bone loss in mucolipidosis II.
Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts.
Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan.
Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism.
Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts.
Pathology of the first autopsy case diagnosed as mucolipidosis type III a/b suggesting autophagic dysfunction.
SLC2A1 gene analysis of Japanese patients with glucose transporter 1 deficiency syndrome.
Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts.
Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.
EBV replicon vector system enhances transgene expression in vivo: applications to cancer gene therapy.
Display 5 items
© 2008 Kawasaki Medical School