Matches in SemOpenAlex for { <https://semopenalex.org/work/W2171985644> ?p ?o ?g. }
- W2171985644 abstract "An in-frame deletion leading to the loss of a single glutamic acid residue in the protein torsinA (ΔE-torsinA) results in an inherited movement disorder, DYT1 dystonia. This autosomal dominant disease affects the function of the brain without causing neurodegeneration, by a mechanism that remains unknown.We evaluated the literature regarding the subcellular localization of torsinA.Efforts to elucidate the pathophysiological basis of DYT1 dystonia have relied partly on examining the subcellular distribution of the wild-type and mutated proteins. A typical approach is to introduce the human torsinA gene (TOR1A) into host cells and overexpress the protein therein. In both neurons and non-neuronal cells, exogenous wild-type torsinA introduced in this manner has been found to localize mainly to the endoplasmic reticulum, whereas exogenous ΔE-torsinA is predominantly in the nuclear envelope or cytoplasmic inclusions. Although these outcomes are relatively consistent, findings for the localization of endogenous torsinA have been variable, leaving its physiological distribution a matter of debate.As patients' cells do not overexpress torsinA proteins, it is important to understand why the reported distributions of the endogenous proteins are inconsistent. We propose that careful optimization of experimental methods will be critical in addressing the causes of the differences among the distributions of endogenous (non-overexpressed) vs. exogenously introduced (overexpressed) proteins." @default.
- W2171985644 created "2016-06-24" @default.
- W2171985644 creator A5013206646 @default.
- W2171985644 date "2014-01-01" @default.
- W2171985644 modified "2023-09-23" @default.
- W2171985644 title "Current Gaps in the Understanding of the Subcellular Distribution of Exogenous and Endogenous Protein TorsinA." @default.
- W2171985644 cites W1507128123 @default.
- W2171985644 cites W1555325451 @default.
- W2171985644 cites W1563562896 @default.
- W2171985644 cites W1901441522 @default.
- W2171985644 cites W1966323641 @default.
- W2171985644 cites W1970374784 @default.
- W2171985644 cites W1973163678 @default.
- W2171985644 cites W1973572453 @default.
- W2171985644 cites W1975005663 @default.
- W2171985644 cites W1982736767 @default.
- W2171985644 cites W1983046814 @default.
- W2171985644 cites W1985183002 @default.
- W2171985644 cites W1986369180 @default.
- W2171985644 cites W1986468800 @default.
- W2171985644 cites W1988259487 @default.
- W2171985644 cites W1995310431 @default.
- W2171985644 cites W1997492444 @default.
- W2171985644 cites W1997720284 @default.
- W2171985644 cites W1998724633 @default.
- W2171985644 cites W2000649353 @default.
- W2171985644 cites W2007227248 @default.
- W2171985644 cites W2011403095 @default.
- W2171985644 cites W2013079415 @default.
- W2171985644 cites W2016796154 @default.
- W2171985644 cites W2019037864 @default.
- W2171985644 cites W2020102061 @default.
- W2171985644 cites W2025693497 @default.
- W2171985644 cites W2026493239 @default.
- W2171985644 cites W2026702206 @default.
- W2171985644 cites W2028697376 @default.
- W2171985644 cites W2030491369 @default.
- W2171985644 cites W2033018630 @default.
- W2171985644 cites W2033287980 @default.
- W2171985644 cites W2035198471 @default.
- W2171985644 cites W2036052128 @default.
- W2171985644 cites W2037572295 @default.
- W2171985644 cites W2039027561 @default.
- W2171985644 cites W2044585308 @default.
- W2171985644 cites W2048727831 @default.
- W2171985644 cites W2049979242 @default.
- W2171985644 cites W2050523116 @default.
- W2171985644 cites W2051199017 @default.
- W2171985644 cites W2055540093 @default.
- W2171985644 cites W2057281288 @default.
- W2171985644 cites W2057524510 @default.
- W2171985644 cites W2057750537 @default.
- W2171985644 cites W2059265460 @default.
- W2171985644 cites W2064811902 @default.
- W2171985644 cites W2065555286 @default.
- W2171985644 cites W2067415425 @default.
- W2171985644 cites W2067455339 @default.
- W2171985644 cites W2068518800 @default.
- W2171985644 cites W2069456643 @default.
- W2171985644 cites W2069556874 @default.
- W2171985644 cites W2069697322 @default.
- W2171985644 cites W2072306758 @default.
- W2171985644 cites W2074576385 @default.
- W2171985644 cites W2076534212 @default.
- W2171985644 cites W2077457890 @default.
- W2171985644 cites W2077663895 @default.
- W2171985644 cites W2079050436 @default.
- W2171985644 cites W2079755210 @default.
- W2171985644 cites W2080523738 @default.
- W2171985644 cites W2084752631 @default.
- W2171985644 cites W2088078969 @default.
- W2171985644 cites W2088192263 @default.
- W2171985644 cites W2089090033 @default.
- W2171985644 cites W2091151964 @default.
- W2171985644 cites W2092073467 @default.
- W2171985644 cites W2092227385 @default.
- W2171985644 cites W2098691225 @default.
- W2171985644 cites W2102755749 @default.
- W2171985644 cites W2104527601 @default.
- W2171985644 cites W2106711789 @default.
- W2171985644 cites W2107472561 @default.
- W2171985644 cites W2107801170 @default.
- W2171985644 cites W2112126058 @default.
- W2171985644 cites W2118076431 @default.
- W2171985644 cites W2118283826 @default.
- W2171985644 cites W2118742277 @default.
- W2171985644 cites W2119353017 @default.
- W2171985644 cites W2119536819 @default.
- W2171985644 cites W2119993806 @default.
- W2171985644 cites W2120869853 @default.
- W2171985644 cites W2123298340 @default.
- W2171985644 cites W2123326107 @default.
- W2171985644 cites W2126373844 @default.
- W2171985644 cites W2127774205 @default.
- W2171985644 cites W2128076281 @default.
- W2171985644 cites W2129100059 @default.
- W2171985644 cites W2129265705 @default.
- W2171985644 cites W2130566610 @default.
- W2171985644 cites W2130670615 @default.
- W2171985644 cites W2131134103 @default.