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- W2883006983 endingPage "87" @default.
- W2883006983 startingPage "87" @default.
- W2883006983 abstract "Lafora disease (LD, OMIM254780) is a rare and fatal form of progressive myoclonus epilepsy (PME). Among PMEs, LD is unique because of the rapid neurological deterioration of the patients and the appearance in brain and peripheral tissues of insoluble glycogen-like (polyglucosan) inclusions, named Lafora bodies (LBs). LD is caused by mutations in the EPM2A gene, encoding the dual phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin. Laforin and malin form a functional complex that is involved in the regulation of glycogen synthesis. Thus, in the absence of a functional complex glycogen accumulates in LBs. In addition, it has been suggested that the laforin-malin complex participates in alternative physiological pathways, such as intracellular protein degradation, oxidative stress, and the endoplasmic reticulum unfolded protein response. In this work we review the possible cellular functions of laforin and malin with a special focus on their role in the ubiquitination of specific substrates. We also discuss here the pathological consequences of defects in laforin or malin functions, as well as the therapeutic strategies that are being explored for LD." @default.
- W2883006983 created "2018-08-03" @default.
- W2883006983 creator A5040017248 @default.
- W2883006983 creator A5040225569 @default.
- W2883006983 creator A5049449477 @default.
- W2883006983 date "2018-07-26" @default.
- W2883006983 modified "2023-10-18" @default.
- W2883006983 title "Lafora Disease: A Ubiquitination-Related Pathology" @default.
- W2883006983 cites W118722484 @default.
- W2883006983 cites W1511202363 @default.
- W2883006983 cites W1546390506 @default.
- W2883006983 cites W1551266290 @default.
- W2883006983 cites W1584056801 @default.
- W2883006983 cites W1591503074 @default.
- W2883006983 cites W1860009367 @default.
- W2883006983 cites W1900548871 @default.
- W2883006983 cites W1957958801 @default.
- W2883006983 cites W1966303381 @default.
- W2883006983 cites W1966698297 @default.
- W2883006983 cites W1969713114 @default.
- W2883006983 cites W1969918683 @default.
- W2883006983 cites W1975033535 @default.
- W2883006983 cites W1977371894 @default.
- W2883006983 cites W1978075301 @default.
- W2883006983 cites W1979529568 @default.
- W2883006983 cites W1981086728 @default.
- W2883006983 cites W1982229026 @default.
- W2883006983 cites W1983314236 @default.
- W2883006983 cites W1985790212 @default.
- W2883006983 cites W1988966516 @default.
- W2883006983 cites W1990007003 @default.
- W2883006983 cites W1991863758 @default.
- W2883006983 cites W1996444490 @default.
- W2883006983 cites W1996714698 @default.
- W2883006983 cites W1997353282 @default.
- W2883006983 cites W1997810327 @default.
- W2883006983 cites W2004995700 @default.
- W2883006983 cites W2010595874 @default.
- W2883006983 cites W2012226556 @default.
- W2883006983 cites W2016631802 @default.
- W2883006983 cites W2025427296 @default.
- W2883006983 cites W2026217175 @default.
- W2883006983 cites W2027133187 @default.
- W2883006983 cites W2033882290 @default.
- W2883006983 cites W2038132994 @default.
- W2883006983 cites W2042832055 @default.
- W2883006983 cites W2043617798 @default.
- W2883006983 cites W2045081388 @default.
- W2883006983 cites W2049283286 @default.
- W2883006983 cites W2049469124 @default.
- W2883006983 cites W2049852307 @default.
- W2883006983 cites W2052743974 @default.
- W2883006983 cites W2057334342 @default.
- W2883006983 cites W2064654765 @default.
- W2883006983 cites W2066759203 @default.
- W2883006983 cites W2068815614 @default.
- W2883006983 cites W2076799163 @default.
- W2883006983 cites W2077168428 @default.
- W2883006983 cites W2077437805 @default.
- W2883006983 cites W2078616128 @default.
- W2883006983 cites W2079082039 @default.
- W2883006983 cites W2085424855 @default.
- W2883006983 cites W2093476689 @default.
- W2883006983 cites W2093589803 @default.
- W2883006983 cites W2095018951 @default.
- W2883006983 cites W2108929776 @default.
- W2883006983 cites W2109015289 @default.
- W2883006983 cites W2109666968 @default.
- W2883006983 cites W2109699278 @default.
- W2883006983 cites W2110601384 @default.
- W2883006983 cites W2115316120 @default.
- W2883006983 cites W2115632183 @default.
- W2883006983 cites W2118393368 @default.
- W2883006983 cites W2118863420 @default.
- W2883006983 cites W2124016419 @default.
- W2883006983 cites W2126722763 @default.
- W2883006983 cites W2131712753 @default.
- W2883006983 cites W2131872983 @default.
- W2883006983 cites W2134907909 @default.
- W2883006983 cites W2137181909 @default.
- W2883006983 cites W2140357048 @default.
- W2883006983 cites W2140641604 @default.
- W2883006983 cites W2144307903 @default.
- W2883006983 cites W2145780431 @default.
- W2883006983 cites W2153524819 @default.
- W2883006983 cites W2157796001 @default.
- W2883006983 cites W2164924935 @default.
- W2883006983 cites W2165372472 @default.
- W2883006983 cites W2167881747 @default.
- W2883006983 cites W2271669151 @default.
- W2883006983 cites W2289887068 @default.
- W2883006983 cites W2302083665 @default.
- W2883006983 cites W2340549461 @default.
- W2883006983 cites W2346792416 @default.
- W2883006983 cites W2396477471 @default.
- W2883006983 cites W2479317925 @default.
- W2883006983 cites W2552971849 @default.
- W2883006983 cites W2568740044 @default.