Biomedical subjects

Hideki Mizuno

Publications and source records attributed to Hideki Mizuno.

3 recordsLinked to original sources

PubMed2005

Late-onset distal myopathy with rimmed vacuoles without mutation in the GNE or dysferlin genes.

We report two brothers from a Japanese family with a late-onset distal myopathy characterized by rimmed vacuoles and dysferlin deficiency with no inflammatory infiltration and dystrophic changes in muscle biopsy. Mutations in the GNE, dysferlin, caveolin 3, emerin, and lamin A/C genes were excluded. We speculate that dysferlin is involved in the pathogenesis of the myopathy in these patients, which may represent a new disease entity presenting as a distal myopathy.

Adult↗

PubMed2004

Nucleolin interacts with telomerase.

Telomerase is a specialized reverse transcriptase composed of core RNA and protein subunits which plays essential roles in maintaining telomeres in actively dividing cells. Recent work indicates that telomerase shuttles between subcellular compartments during assembly and in response to specific stimuli. In particular, telomerase colocalizes with nucleoli in normal human fibroblasts. Here, we show that nucleolin, a major nucleolar phosphoprotein, interacts with telomerase and alters its subcellular localization. Nucleolin binds the human telomerase reverse transcriptase subunit (hTERT) through interactions with its RNA binding domain 4 and carboxyl-terminal RGG domain, and this binding also involves the telomerase RNA subunit hTERC. The protein-protein interaction between nucleolin and hTERT is critical for the nucleolar localization of hTERT. These findings indicate that interaction of hTERT and nucleolin participates in the dynamic intracellular localization of telomerase complex.

Catalytic Domain↗

PubMed2004

[A difficult case of advanced testicular choriocarcinoma effectively treated by chemotherapy and resection of lung metastasis].

A 25-year-old man who suffered from cough, sputum, and swelling of left scrotal contents was admitted to our hospital. We found testicular choriocarcinoma with multiple lung, liver, and brain metastases. The patient received 5 courses of VIP therapy (cisplatin, etoposide, ifosfamide) and 1 course of high-dose chemotherapy (carboplatin, etoposide, cyclophospamide) with peripheral blood stem cell transplantation. One year later, the patient underwent surgery for resection of lung metastasis after 1 course of chemotherapy (cisplatin, etoposide). Pathological diagnosis showed a remnant of choriocarcinoma. Three years and three months after surgery, no recurrence of the choriocarcinoma has been found.

Adult↗