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1. 遺伝性運動失調の概要 overview of the hereditary ataxias
2. 先天性代謝異常：個々の障害の発見 inborn errors of metabolism identifying the specific disorder
3. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
4. ミオクローヌスの分類および評価 classification and evaluation of myoclonus
5. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus

Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.

Kwak JE1, Son MY2, Son YS1, Son MJ2, Cho YS3.
Biochemical and biophysical research communications.Biochem Biophys Res Commun.2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
Lysosomes are cytoplasmic compartments that contain many acid hydrolases and play critical roles in the metabolism of a wide range of macromolecules. Deficiencies in lysosomal enzyme activities cause genetic diseases, called lysosomal storage disorders (LSDs). Many mutations have been identified in
PMID 25600812

Deficiency of antigen-specific B cells results in decreased Trypanosoma cruzi systemic but not mucosal immunity due to CD8 T cell exhaustion.

Sullivan NL1, Eickhoff CS2, Sagartz J3, Hoft DF4.
Journal of immunology (Baltimore, Md. : 1950).J Immunol.2015 Feb 15;194(4):1806-18. doi: 10.4049/jimmunol.1303163. Epub 2015 Jan 16.
Vaccines against mucosally invasive, intracellular pathogens must induce a myriad of immune responses to provide optimal mucosal and systemic protection, including CD4(+) T cells, CD8(+) T cells, and Ab-producing B cells. In general, CD4(+) T cells are known to provide important helper functions for
PMID 25595788

Villin immunohistochemistry is a reliable method for diagnosing microvillus inclusion disease.

Shillingford NM1, Calicchio ML, Teot LA, Boyd T, Kurek KC, Goldsmith JD, Bousvaros A, Perez-Atayde AR, Kozakewich HP.
The American journal of surgical pathology.Am J Surg Pathol.2015 Feb;39(2):245-50. doi: 10.1097/PAS.0000000000000355.
Microvillus inclusion disease (MVID) is a rare congenital disorder that manifests early in infancy as intractable watery diarrhea. The entity is characterized morphologically by a deficient brush border and apical cytoplasmic inclusions within absorptive cells (enterocytes) due to misplaced assembly
PMID 25517957

Molecular mechanism of lysosomal sialidase deficiency in galactosialidosis involves its rapid degradation

舘睦子
1989-04-01
… The accumulation of Gg4Cer in the GM1-gang-liosidosis brains seemed to be caused not only by catabolic β-galactosidase deficiency, but also by a higher level of Gg4Cer synthase and sialidase which forms Gg4Cer from GM1. …
NAID 120001796725