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- W4313654049 endingPage "283" @default.
- W4313654049 startingPage "261" @default.
- W4313654049 abstract "During the last decade, 18 genes and 11 additional loci harboring candidate genes have been associated with Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies. Ten of these 18 genes have been identified in the last 2 years. This phenomenal pace of CMT gene discovery has fomented an unprecedented explosion of information regarding peripheral nerve biology and its pathologic manifestations in CMT. This review integrates molecular genetics with the clinical phenotypes and provides a flowchart for molecular-based diagnostics. In addition, we discuss rational approaches to molecular therapeutics, including novel biologic molecules (eg, small interfering ribonucleic acid [siRNA], antisense RNA, and ribozymes) that potentially could be used as drugs in the future. These may be applicable in attempts to normalize gene expression in cases of CMT type 1A, wherein a 1.5 Mb genomic duplication causes an increase in gene dosage that is associated with the majority of CMT cases. Aggresome formation by the PMP22 gene product, the disease-associated gene in the duplication cases, could thus be avoided. We also discuss alternative therapeutics, in light of other neurodegenerative disorders, to disrupt such aggresomes. Finally, we review rational therapeutic approaches, including the use of antioxidants such as vitamin E, coenzyme Q 10 , or lipoic acid to relax potential oxidative stress in peripheral nerves, for CMT management." @default.
- W4313654049 created "2023-01-07" @default.
- W4313654049 creator A5000612576 @default.
- W4313654049 creator A5002891063 @default.
- W4313654049 creator A5004354723 @default.
- W4313654049 creator A5036964780 @default.
- W4313654049 creator A5076009648 @default.
- W4313654049 date "2003-09-01" @default.
- W4313654049 modified "2023-10-17" @default.
- W4313654049 title "Molecular Mechanisms, Diagnosis, and Rational Approaches to Management of and Therapy for Charcot-Marie-Tooth Disease and Related Peripheral Neuropathies" @default.
- W4313654049 cites W1480359191 @default.
- W4313654049 cites W1480727842 @default.
- W4313654049 cites W1487741670 @default.
- W4313654049 cites W1510172420 @default.
- W4313654049 cites W1523426847 @default.
- W4313654049 cites W1529011174 @default.
- W4313654049 cites W1539675254 @default.
- W4313654049 cites W1557488126 @default.
- W4313654049 cites W1573139030 @default.
- W4313654049 cites W1647075334 @default.
- W4313654049 cites W1693283493 @default.
- W4313654049 cites W1805451181 @default.
- W4313654049 cites W1818785694 @default.
- W4313654049 cites W1958675029 @default.
- W4313654049 cites W1964309940 @default.
- W4313654049 cites W1964982646 @default.
- W4313654049 cites W1967308780 @default.
- W4313654049 cites W1967546787 @default.
- W4313654049 cites W1968242810 @default.
- W4313654049 cites W1968322192 @default.
- W4313654049 cites W1971646081 @default.
- W4313654049 cites W1972308156 @default.
- W4313654049 cites W1973224467 @default.
- W4313654049 cites W1973457937 @default.
- W4313654049 cites W1974361821 @default.
- W4313654049 cites W1975150291 @default.
- W4313654049 cites W1976778494 @default.
- W4313654049 cites W1978790020 @default.
- W4313654049 cites W1980405757 @default.
- W4313654049 cites W1981496682 @default.
- W4313654049 cites W1982327997 @default.
- W4313654049 cites W1982647438 @default.
- W4313654049 cites W1984723875 @default.
- W4313654049 cites W1984979116 @default.
- W4313654049 cites W1985120565 @default.
- W4313654049 cites W1987877477 @default.
- W4313654049 cites W1990255744 @default.
- W4313654049 cites W1990516869 @default.
- W4313654049 cites W1990657506 @default.
- W4313654049 cites W1991402624 @default.
- W4313654049 cites W1995593916 @default.
- W4313654049 cites W1995841153 @default.
- W4313654049 cites W1999113624 @default.
- W4313654049 cites W1999704300 @default.
- W4313654049 cites W1999955296 @default.
- W4313654049 cites W2000053674 @default.
- W4313654049 cites W2000959775 @default.
- W4313654049 cites W2001288293 @default.
- W4313654049 cites W2004760642 @default.
- W4313654049 cites W2005110566 @default.
- W4313654049 cites W2005567975 @default.
- W4313654049 cites W2006083444 @default.
- W4313654049 cites W2006276593 @default.
- W4313654049 cites W2006846732 @default.
- W4313654049 cites W2007826893 @default.
- W4313654049 cites W2008089283 @default.
- W4313654049 cites W2009477357 @default.
- W4313654049 cites W2011575330 @default.
- W4313654049 cites W2011586442 @default.
- W4313654049 cites W2012132694 @default.
- W4313654049 cites W2012242545 @default.
- W4313654049 cites W2015768958 @default.
- W4313654049 cites W2018808458 @default.
- W4313654049 cites W2018816922 @default.
- W4313654049 cites W2019003938 @default.
- W4313654049 cites W2019978409 @default.
- W4313654049 cites W2020453274 @default.
- W4313654049 cites W2020727612 @default.
- W4313654049 cites W2021131636 @default.
- W4313654049 cites W2021645748 @default.
- W4313654049 cites W2021676372 @default.
- W4313654049 cites W2022058104 @default.
- W4313654049 cites W2022645386 @default.
- W4313654049 cites W2024235446 @default.
- W4313654049 cites W2025117401 @default.
- W4313654049 cites W2026537232 @default.
- W4313654049 cites W2027867457 @default.
- W4313654049 cites W2028876509 @default.
- W4313654049 cites W2028934778 @default.
- W4313654049 cites W2030743971 @default.
- W4313654049 cites W2036527769 @default.
- W4313654049 cites W2036777562 @default.
- W4313654049 cites W2038205842 @default.
- W4313654049 cites W2039780251 @default.
- W4313654049 cites W2040276736 @default.
- W4313654049 cites W2040394644 @default.
- W4313654049 cites W2040724884 @default.
- W4313654049 cites W2040844744 @default.