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- W3137978738 endingPage "135841" @default.
- W3137978738 startingPage "135841" @default.
- W3137978738 abstract "Krabbe disease (globoid cell leukodystrophy) is a lysosomal storage disease (LSD) characterized by progressive and profound demyelination. Infantile, juvenile and adult-onset forms of Krabbe disease have been described, with infantile being the most common. Children with an infantile-onset generally appear normal at birth but begin to miss developmental milestones by six months of age and die by two to four years of age. Krabbe disease is caused by a deficiency of the acid hydrolase galactosylceramidase (GALC) which is responsible for the degradation of galactosylceramides and sphingolipids, which are abundant in myelin membranes. The absence of GALC leads to the toxic accumulation of galactosylsphingosine (psychosine), a lysoderivative of galactosylceramides, in oligodendrocytes and Schwann cells resulting in demyelination of the central and peripheral nervous systems, respectively. Treatment strategies such as enzyme replacement, substrate reduction, enzyme chaperones, and gene therapy have shown promise in LSDs. Unfortunately, Krabbe disease has been relatively refractory to most single-therapy interventions. Although hematopoietic stem cell transplantation can alter the course of Krabbe disease and is the current standard-of-care, it simply slows the progression, even when initiated in pre-symptomatic children. However, the recent success of combinatorial therapeutic approaches in small animal models of Krabbe disease and the identification of new pathogenic mechanisms provide hope for the development of effective treatments for this devastating disease. This review provides a brief history of Krabbe disease and the evolution of single and combination therapeutic approaches and discusses new pathogenic mechanisms and how they might impact the development of more effective treatment strategies." @default.
- W3137978738 created "2021-03-29" @default.
- W3137978738 creator A5024450225 @default.
- W3137978738 creator A5030700673 @default.
- W3137978738 creator A5068968463 @default.
- W3137978738 date "2021-05-01" @default.
- W3137978738 modified "2023-09-29" @default.
- W3137978738 title "Krabbe disease: New hope for an old disease" @default.
- W3137978738 cites W103101921 @default.
- W3137978738 cites W1527190988 @default.
- W3137978738 cites W1547904215 @default.
- W3137978738 cites W1601578556 @default.
- W3137978738 cites W1670697904 @default.
- W3137978738 cites W1748730666 @default.
- W3137978738 cites W1965002999 @default.
- W3137978738 cites W1965227495 @default.
- W3137978738 cites W1972797859 @default.
- W3137978738 cites W1972866355 @default.
- W3137978738 cites W1973272679 @default.
- W3137978738 cites W1973986115 @default.
- W3137978738 cites W1975964041 @default.
- W3137978738 cites W1976594720 @default.
- W3137978738 cites W1980671800 @default.
- W3137978738 cites W1984727408 @default.
- W3137978738 cites W1991655565 @default.
- W3137978738 cites W1994077226 @default.
- W3137978738 cites W1995654020 @default.
- W3137978738 cites W1996007115 @default.
- W3137978738 cites W2002232578 @default.
- W3137978738 cites W2005122043 @default.
- W3137978738 cites W2005595444 @default.
- W3137978738 cites W2005833320 @default.
- W3137978738 cites W2007320109 @default.
- W3137978738 cites W2009909482 @default.
- W3137978738 cites W2012385833 @default.
- W3137978738 cites W2013867379 @default.
- W3137978738 cites W2014503023 @default.
- W3137978738 cites W2014600125 @default.
- W3137978738 cites W2015217404 @default.
- W3137978738 cites W2016199387 @default.
- W3137978738 cites W2017447240 @default.
- W3137978738 cites W2018827685 @default.
- W3137978738 cites W2023899556 @default.
- W3137978738 cites W2025306989 @default.
- W3137978738 cites W2028227113 @default.
- W3137978738 cites W2032856835 @default.
- W3137978738 cites W2040066489 @default.
- W3137978738 cites W2047276929 @default.
- W3137978738 cites W2048255364 @default.
- W3137978738 cites W2049644653 @default.
- W3137978738 cites W2051073094 @default.
- W3137978738 cites W2052693837 @default.
- W3137978738 cites W2059243338 @default.
- W3137978738 cites W2061329192 @default.
- W3137978738 cites W2064677616 @default.
- W3137978738 cites W2066284508 @default.
- W3137978738 cites W2082619778 @default.
- W3137978738 cites W2089627637 @default.
- W3137978738 cites W2090563866 @default.
- W3137978738 cites W2091730673 @default.
- W3137978738 cites W2092440284 @default.
- W3137978738 cites W2093371502 @default.
- W3137978738 cites W2093785935 @default.
- W3137978738 cites W2098199598 @default.
- W3137978738 cites W2101762911 @default.
- W3137978738 cites W2101828749 @default.
- W3137978738 cites W2102310805 @default.
- W3137978738 cites W2112710740 @default.
- W3137978738 cites W2115025939 @default.
- W3137978738 cites W2120866251 @default.
- W3137978738 cites W2121488001 @default.
- W3137978738 cites W2121936687 @default.
- W3137978738 cites W2122502269 @default.
- W3137978738 cites W2131141877 @default.
- W3137978738 cites W2133991651 @default.
- W3137978738 cites W2136558879 @default.
- W3137978738 cites W2141350766 @default.
- W3137978738 cites W2146439388 @default.
- W3137978738 cites W2147612731 @default.
- W3137978738 cites W2153909503 @default.
- W3137978738 cites W2166394238 @default.
- W3137978738 cites W2189402685 @default.
- W3137978738 cites W2224425637 @default.
- W3137978738 cites W2326706269 @default.
- W3137978738 cites W2509039209 @default.
- W3137978738 cites W2522443663 @default.
- W3137978738 cites W2522613239 @default.
- W3137978738 cites W2523437487 @default.
- W3137978738 cites W2525158254 @default.
- W3137978738 cites W2536600754 @default.
- W3137978738 cites W2619210033 @default.
- W3137978738 cites W2740570637 @default.
- W3137978738 cites W2782895591 @default.
- W3137978738 cites W2783795877 @default.
- W3137978738 cites W2793741096 @default.
- W3137978738 cites W2885359466 @default.
- W3137978738 cites W2888830078 @default.
- W3137978738 cites W2943337975 @default.