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Page 1
Showing results for galc enzyme
Your search for galactenzyme retrieved no results
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.
Genome-wide association studies in PD have revealed multiple associated loci, including the GALC locus on chromosome 14. GALC encodes the lysosomal enzyme galactosylceramidase, which plays a pivotal role in the glycosphingolipid metabolism pathway. It is stil …
Genome-wide association studies in PD have revealed multiple associated loci, including the GALC locus on chromosome 14. GALC …
Krabbe disease: New hope for an old disease.
Bradbury AM, Bongarzone ER, Sands MS. Bradbury AM, et al. Neurosci Lett. 2021 May 1;752:135841. doi: 10.1016/j.neulet.2021.135841. Epub 2021 Mar 22. Neurosci Lett. 2021. PMID: 33766733 Free PMC article. Review.
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. ...Treatment strategies such as enzyme replacement, …
Krabbe disease is caused by a deficiency of the acid hydrolase galactosylceramidase (GALC) which is responsible for the degradation o …
Krabbe Disease.
Orsini JJ, Escolar ML, Wasserstein MP, Caggana M. Orsini JJ, et al. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Jun 19 [updated 2018 Oct 11]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301416 Free Books & Documents. Review.
The diagnosis of Krabbe disease, suspected in a symptomatic proband based on clinical findings (by age) and other supportive laboratory, neuroimaging, and electrophysiologic findings, is established by detection of deficient GALC enzyme activity in leukocytes. Abnor …
The diagnosis of Krabbe disease, suspected in a symptomatic proband based on clinical findings (by age) and other supportive laboratory, neu …
Krabbe Disease.
Jain M, De Jesus O. Jain M, et al. 2023 Aug 23. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Aug 23. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 32965986 Free Books & Documents.
The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC). This enzyme is responsible for metabolizing galactolipids in the central nervous system and peripheral nervous system, and failure of …
The gene mutation occurs at chromosome 14, which codes for a lysosomal hydrolase known as galactosylceramide beta hydrolase (GALC). T …
Oncosuppressive and oncogenic activity of the sphingolipid-metabolizing enzyme beta-galactosylceramidase.
Belleri M, Chiodelli P, Corli M, Capra M, Presta M. Belleri M, et al. Biochim Biophys Acta Rev Cancer. 2022 Jan;1877(1):188675. doi: 10.1016/j.bbcan.2021.188675. Epub 2021 Dec 31. Biochim Biophys Acta Rev Cancer. 2022. PMID: 34974112 Review.
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide, leading to the formation of the oncosuppressor metabolite ceramide. Recent observations have shown that GALC may exert opposite effects on tumor g …
beta-galactosylceramidase (GALC) is a lysosomal enzyme that removes beta-galactose from beta-galactosylceramide, leading to th …
Platelet autophagic machinery involved in thrombosis through a novel linkage of AMPK-MTOR to sphingolipid metabolism.
Lee TY, Lu WJ, Changou CA, Hsiung YC, Trang NTT, Lee CY, Chang TH, Jayakumar T, Hsieh CY, Yang CH, Chang CC, Chen RJ, Sheu JR, Lin KH. Lee TY, et al. Autophagy. 2021 Dec;17(12):4141-4158. doi: 10.1080/15548627.2021.1904495. Epub 2021 Apr 5. Autophagy. 2021. PMID: 33749503 Free PMC article.
.: citric acid/sod. citrate/glucose; ADP: adenosine diphosphate; AKT: AKT serine/threonine kinase; AMPK: AMP-activated protein kinase; ANOVA: analysis of variance; ATG: autophagy-related; B4GALT/LacCS: beta-1,4-galactosyltransferase; Baf-A1: bafilomycin A(1); BECN1: beclin 1; BHT …
.: citric acid/sod. citrate/glucose; ADP: adenosine diphosphate; AKT: AKT serine/threonine kinase; AMPK: AMP-activated protein kinase; ANOVA …
Globoid Cell Leukodystrophy (Krabbe Disease): An Update.
Maghazachi AA. Maghazachi AA. Immunotargets Ther. 2023 Oct 31;12:105-111. doi: 10.2147/ITT.S424622. eCollection 2023. Immunotargets Ther. 2023. PMID: 37928748 Free PMC article. Review.
Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the enzyme galactosylceramidase/galctocerebrosidase (GALC), resulting in the deposition of the toxic lipid D-galactosyl-beta1-1' sphing …
Globoid cell leukodystrophy or Krabbe is a disease that affects children as well as adults who have mutations in the gene encoding the en …
Krabbe disease: A personal perspective and hypothesis.
Rafi MA. Rafi MA. Bioimpacts. 2022;12(1):3-7. doi: 10.34172/bi.2021.23931. Epub 2021 Dec 22. Bioimpacts. 2022. PMID: 35087711 Free PMC article. Review.
The success is credited to the ability of the hematopoietic stem cells in providing some GALC enzyme to the CNS and eradicating potential neuroinflammation. ...Results: Here, the possibility of eliminating HSCT in the treatment of human patients and replacing it wit …
The success is credited to the ability of the hematopoietic stem cells in providing some GALC enzyme to the CNS and eradicatin …
rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs.
Tian G, Cao C, Li S, Wang W, Zhang Y, Lv Y. Tian G, et al. Pharmaceuticals (Basel). 2023 Apr 20;16(4):624. doi: 10.3390/ph16040624. Pharmaceuticals (Basel). 2023. PMID: 37111381 Free PMC article.
Krabbe disease is a rare neurodegenerative fatal disease. It is caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC), which results in progressive accumulation of galactolipid substrates in myelin-forming cells. ...By using nine kinds of recombin …
Krabbe disease is a rare neurodegenerative fatal disease. It is caused by deficiency of the lysosomal enzyme galactocerebrosidase ( …
412 results