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Quoted phrase not found in phrase index: "Reduced galactocerebrosidase activity"
Page 1
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K, Zorca CE, Dworkind A, Rudakou U, Somerville E, Yu E, Ermolaev A, Nikanorova D, Ahmad J, Ruskey JA, Asayesh F, Spiegelman D, Fahn S, Waters C, Monchi O, Dauvilliers Y, Dupré N, Greenbaum L, Hassin-Baer S, Grenn FP, Chiang MSR, Sardi SP, Vanderperre B, Blauwendraat C, Trempe JF, Fon EA, Durcan TM, Alcalay RN, Gan-Or Z. Senkevich K, et al. Brain. 2023 May 2;146(5):1859-1872. doi: 10.1093/brain/awac413. Brain. 2023. PMID: 36370000 Free PMC article.
We further analysed the effects of common GALC variants on expression and galactosylceramidase activity using genomic colocalization methods. Mendelian randomization was used to study whether galactosylceramidase activity may be causal in PD. .. …
We further analysed the effects of common GALC variants on expression and galactosylceramidase activity using genomic colocali …
Substrate reduction therapy for Krabbe's disease.
Sands SA, LeVine SM. Sands SA, et al. J Neurosci Res. 2016 Nov;94(11):1261-72. doi: 10.1002/jnr.23791. J Neurosci Res. 2016. PMID: 27638608 Review.
The premise of SRT is to reduce the synthesis of substrates that are not adequately digested so that the substrate burden is lowered, resulting in less accumulation of unmetabolized material. ...However, SRT has the potential to impair normal function by reducing th …
The premise of SRT is to reduce the synthesis of substrates that are not adequately digested so that the substrate burden is lowered, …
Biochemical aspects of globoid and metachromatic leukodystrophies.
Farooqui AA, Horrocks LA. Farooqui AA, et al. Neurochem Pathol. 1984 Fall;2(3):189-218. doi: 10.1007/BF02834352. Neurochem Pathol. 1984. PMID: 6152665 Review.
Thus, a deficiency of galactocerebroside beta-galactosidase results in globoid cell leukodystrophy, whereas a reduced activity of arylsulfatase A is responsible for metachromatic leukodystrophy. ...
Thus, a deficiency of galactocerebroside beta-galactosidase results in globoid cell leukodystrophy, whereas a reduced activity …
Neural stem cell gene therapy ameliorates pathology and function in a mouse model of globoid cell leukodystrophy.
Neri M, Ricca A, di Girolamo I, Alcala'-Franco B, Cavazzin C, Orlacchio A, Martino S, Naldini L, Gritti A. Neri M, et al. Stem Cells. 2011 Oct;29(10):1559-71. doi: 10.1002/stem.701. Stem Cells. 2011. PMID: 21809420 Free PMC article.
Cells engrafted long-term into the host cytoarchitecture, producing functional GALC. Levels of enzyme activity in brain and spinal cord tissues were enhanced when GALC-overexpressing NSC were used. Enzymatic correction correlated with reduced tissue storage, decreas …
Cells engrafted long-term into the host cytoarchitecture, producing functional GALC. Levels of enzyme activity in brain and spinal co …