ETFA
ETFA (Electron transfer flavoprotein subunit alpha) هوَ بروتين يُشَفر بواسطة جين ETFA في الإنسان.[1]
الوظيفة
الأهمية السريرية
المراجع
- ^ "Entrez Gene: ETFA electron-transfer-flavoprotein, alpha polypeptide (glutaric aciduria II)". مؤرشف من الأصل في 2010-03-07.
قراءة متعمقة
- Frerman FE (1988). "Acyl-CoA dehydrogenases, electron transfer flavoprotein and electron transfer flavoprotein dehydrogenase". Biochem. Soc. Trans. ج. 16 ع. 3: 416–8. PMID:3053288.
- Freneaux E، Sheffield VC، Molin L، وآخرون (1992). "Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients". J. Clin. Invest. ج. 90 ع. 5: 1679–86. DOI:10.1172/JCI116040. PMC:443224. PMID:1430199.
- Indo Y، Glassberg R، Yokota I، Tanaka K (1991). "Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II--and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient". Am. J. Hum. Genet. ج. 49 ع. 3: 575–80. PMC:1683153. PMID:1882842.
- Finocchiaro G، Ito M، Ikeda Y، Tanaka K (1988). "Molecular cloning and nucleotide sequence of cDNAs encoding the alpha-subunit of human electron transfer flavoprotein". J. Biol. Chem. ج. 263 ع. 30: 15773–80. PMID:3170610.
- White RA، Dowler LL، Angeloni SV، Koeller DM (1996). "Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human". Genomics. ج. 33 ع. 1: 131–4. DOI:10.1006/geno.1996.0170. PMID:8617498.
- Roberts DL، Frerman FE، Kim JJ (1997). "Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution". Proc. Natl. Acad. Sci. U.S.A. ج. 93 ع. 25: 14355–60. DOI:10.1073/pnas.93.25.14355. PMC:26136. PMID:8962055.
- Bross P، Pedersen P، Winter V، وآخرون (1999). "A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation". Mol. Genet. Metab. ج. 67 ع. 2: 138–47. DOI:10.1006/mgme.1999.2856. PMID:10356313.
- Jones M، Talfournier F، Bobrov A، وآخرون (2002). "Electron transfer and conformational change in complexes of trimethylamine dehydrogenase and electron transferring flavoprotein". J. Biol. Chem. ج. 277 ع. 10: 8457–65. DOI:10.1074/jbc.M111105200. PMID:11756429.
{{استشهاد بدورية محكمة}}: صيانة الاستشهاد: دوي مجاني غير معلم (link) - Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
- Olsen RK، Andresen BS، Christensen E، وآخرون (2003). "Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency". Hum. Mutat. ج. 22 ع. 1: 12–23. DOI:10.1002/humu.10226. PMID:12815589.
- Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
- Kimura K، Wakamatsu A، Suzuki Y، وآخرون (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. ج. 16 ع. 1: 55–65. DOI:10.1101/gr.4039406. PMC:1356129. PMID:16344560.
- Schiff M، Froissart R، Olsen RK، وآخرون (2006). "Electron transfer flavoprotein deficiency: functional and molecular aspects". Mol. Genet. Metab. ج. 88 ع. 2: 153–8. DOI:10.1016/j.ymgme.2006.01.009. PMID:16510302.
- Olsen JV، Blagoev B، Gnad F، وآخرون (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. ج. 127 ع. 3: 635–48. DOI:10.1016/j.cell.2006.09.026. PMID:17081983.
- Chiong MA، Sim KG، Carpenter K، وآخرون (2007). "Transient multiple acyl-CoA dehydrogenation deficiency in a newborn female caused by maternal riboflavin deficiency". Mol. Genet. Metab. ج. 92 ع. 1–2: 109–14. DOI:10.1016/j.ymgme.2007.06.017. PMID:17689999.