WordNet

any of several complex proteins that are produced by cells and act as catalysts in specific biochemical reactions

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1. ペルオキシソーム病 peroxisomal disorders
2. 新生児における筋緊張低下を引き起こす末梢神経および筋肉の障害に関する概要 overview of peripheral nerve and muscle disorders causing hypotonia in the newborn
3. 小児における原発性副腎不全の原因および臨床症状 causes and clinical manifestations of primary adrenal insufficiency in children
4. 先天性代謝異常：分類 inborn errors of metabolism classification
5. 全身疾患と関連した遺伝性ニューロパチー hereditary neuropathies associated with generalized disorders

Sahasrabuddhe NA1, Huang TC2, Ahmad S3, Kim MS4, Yang Y2, Ghosh B5, Leach SD6, Gowda H3, Somani BL3, Chaerkady R7, Pandey A8.
Journal of proteomics.J Proteomics.2014 Aug 28;108:306-15. doi: 10.1016/j.jprot.2014.04.027. Epub 2014 Apr 24.
Dicer is a crucial RNase III enzyme in miRNA biogenesis pathway. Although numerous studies have been carried out to investigate the role of miRNAs and Dicer in the regulation of biological processes, few studies have examined proteomic alterations upon knockout of Dicer. We employed a Cre-loxP-based
PMID 24769236

Central nervous system pathology in MFP2 deficiency: insights from general and conditional knockout mouse models.

Verheijden S1, Beckers L2, De Munter S3, Van Veldhoven PP4, Baes M5.
Biochimie.Biochimie.2014 Mar;98:119-26. doi: 10.1016/j.biochi.2013.08.009. Epub 2013 Aug 19.
Multifunctional protein-2 (MFP2), also known as D-bifunctional protein, is a central enzyme of the peroxisomal β-oxidation pathway. Defects in this enzyme are associated with a spectrum of neurological disorders encompassing developmental and degenerative pathologies. In order to investigate the ce
PMID 23969159

Klootwijk ED1, Reichold M, Helip-Wooley A, Tolaymat A, Broeker C, Robinette SL, Reinders J, Peindl D, Renner K, Eberhart K, Assmann N, Oefner PJ, Dettmer K, Sterner C, Schroeder J, Zorger N, Witzgall R, Reinhold SW, Stanescu HC, Bockenhauer D, Jaureguiberry G, Courtneidge H, Hall AM, Wijeyesekera AD, Holmes E, Nicholson JK, O'Brien K, Bernardini I, Krasnewich DM, Arcos-Burgos M, Izumi Y, Nonoguchi H, Jia Y, Reddy JK, Ilyas M, Unwin RJ, Gahl WA, Warth R, Kleta R.
The New England journal of medicine.N Engl J Med.2014 Jan 9;370(2):129-38. doi: 10.1056/NEJMoa1307581.
BACKGROUND: In renal Fanconi's syndrome, dysfunction in proximal tubular cells leads to renal losses of water, electrolytes, and low-molecular-weight nutrients. For most types of isolated Fanconi's syndrome, the genetic cause and underlying defect remain unknown.METHODS: We clinically and geneticall
PMID 24401050