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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 37 - 42 (6page)
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The tubby protein (Tub), a putative transcription factor, plays important roles in the maintenance and function of neuronal cells. A splicing defect-causing mutation in the 3'-end of the tubby gene, which is predicted to disrupt the carboxy-terminal region of the Tub protein, causes maturity-onset obesity, blindness, and deafness in mice. Although this pathological Tub mutation leads to a loss of function, the precise mechanism has not yet been investigated. Here, we found that the mutant Tub proteins were mostly localized to puncta found in the perinuclear region and that the C-terminus was important for its solubility. Immunocytochemical analysis revealed that puncta of mutant Tub co-localized with the aggresome. Moreover, whereas wild-type Tub was translocated to the nucleus by extracellular signaling, the mutant forms failed to undergo such translocation. Taken together, our results suggest that the malfunctions of the Tub mutant are caused by its misfolding and subsequent localization to aggresomes.
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참고문헌 (22)
참고문헌 신청
Banerjeel P / 1998 / TULP1 mutation in two extended Dominican kindreds with autosomal recessive Retinitis pigmentosa / Nat Genet 18 : 177 ~ 179
Boggon TJ / 1999 / Implication of tubby proteins as transcription factors by structure-based functional analysis / Science 286 : 2119 ~ 2125
Carroll K / 2004 / Tubby proteins: the plot thickens / Nat Rev Mol Cell Biol 5 : 55 ~ 64
Coleman D / 1990 / Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse / J Hered 81 : 424 ~ 427
Debure L / 2003 / Intracellular clusterin causes juxtanuclear aggregate formation and mitochondrial alteration / J Cell Sci 116 : 3109 ~ 3121
Boggon TJ / 1999 / Implication of tubby proteins as transcription factors by structure-based functional analysis / Science 286 : 2119 ~ 2125
Carroll K / 2004 / Tubby proteins: the plot thickens / Nat Rev Mol Cell Biol 5 : 55 ~ 64
Coleman D / 1990 / Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse / J Hered 81 : 424 ~ 427
Debure L / 2003 / Intracellular clusterin causes juxtanuclear aggregate formation and mitochondrial alteration / J Cell Sci 116 : 3109 ~ 3121
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