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2014 1
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Page 1
The ménage à trois of autophagy, lipid droplets and liver disease.
Filali-Mouncef Y, Hunter C, Roccio F, Zagkou S, Dupont N, Primard C, Proikas-Cezanne T, Reggiori F. Filali-Mouncef Y, et al. Autophagy. 2022 Jan;18(1):50-72. doi: 10.1080/15548627.2021.1895658. Epub 2021 Apr 2. Autophagy. 2022. PMID: 33794741 Free PMC article. Review.
Particular attention is paid to the role of macroautophagy and macrolipophagy in relation to the parenchymal and non-parenchymal cells of the liver in NASH, as this disease has been associated with inappropriate lipophagy in various cell types of the liver.Abbreviations: ACAT: ac …
Particular attention is paid to the role of macroautophagy and macrolipophagy in relation to the parenchymal and non-parenchymal cells of th …
The Troyer syndrome protein spartin mediates selective autophagy of lipid droplets.
Chung J, Park J, Lai ZW, Lambert TJ, Richards RC, Zhang J, Walther TC, Farese RV Jr. Chung J, et al. Nat Cell Biol. 2023 Aug;25(8):1101-1110. doi: 10.1038/s41556-023-01178-w. Epub 2023 Jul 13. Nat Cell Biol. 2023. PMID: 37443287 Free PMC article.
Mutations in SPART (encoding spartin) lead to Troyer syndrome, a form of complex hereditary spastic paraplegia(1). Interfering with spartin function in cultured human neurons or murine brain neurons leads to LD and triglyceride accumulation. ...
Mutations in SPART (encoding spartin) lead to Troyer syndrome, a form of complex hereditary spastic paraplegia(1). Interfering …
Feedback regulation of ubiquitination and phase separation of HECT E3 ligases.
Li J, Zhu K, Gu A, Zhang Y, Huang S, Hu R, Hu W, Lei QY, Wen W. Li J, et al. Proc Natl Acad Sci U S A. 2023 Aug 15;120(33):e2302478120. doi: 10.1073/pnas.2302478120. Epub 2023 Aug 7. Proc Natl Acad Sci U S A. 2023. PMID: 37549262 Free PMC article.
In this study, we find that Spartin promotes the formation of Itch condensates independent of LDs. ...Spartin-induced activation and subsequent autoubiquitination of Itch lead to liquid-liquid phase separation (LLPS) of the poly-, but not oligo-, ubiquitinated Itch …
In this study, we find that Spartin promotes the formation of Itch condensates independent of LDs. ...Spartin-induced activati …
Spartin: At the crossroad between ubiquitination and metabolism in cancer.
Cusenza VY, Bonora E, Amodio N, Frazzi R. Cusenza VY, et al. Biochim Biophys Acta Rev Cancer. 2022 Nov;1877(6):188813. doi: 10.1016/j.bbcan.2022.188813. Epub 2022 Oct 1. Biochim Biophys Acta Rev Cancer. 2022. PMID: 36195276 Review.
SPART is a gene coding for a multifunctional protein called spartin, localized in various organelles of human cells. ...The most recent evidences report a downregulation of spartin in tumor tissues when compared to adjacent normal samples. ...
SPART is a gene coding for a multifunctional protein called spartin, localized in various organelles of human cells. ...The mo
Methylation Heterogeneity and Gene Expression of SPG20 in Solid Tumors.
Cusenza VY, Braglia L, Frazzi R. Cusenza VY, et al. Genes (Basel). 2022 May 12;13(5):861. doi: 10.3390/genes13050861. Genes (Basel). 2022. PMID: 35627246 Free PMC article.
INTRODUCTION: The downregulation of the Spastic Paraplegia-20 (SPG20) gene is correlated with a rare autosomal recessive disorder called Troyer Syndrome. Only in recent years has SPG20 been studied and partially characterized in cancer. SPG20 has been shown t …
INTRODUCTION: The downregulation of the Spastic Paraplegia-20 (SPG20) gene is correlated with a rare autosomal recessive disorder cal …
Lysosomal damage sensing and lysophagy initiation by SPG20-ITCH.
Gahlot P, Kravic B, Rota G, van den Boom J, Levantovsky S, Schulze N, Maspero E, Polo S, Behrends C, Meyer H. Gahlot P, et al. Mol Cell. 2024 Apr 18;84(8):1556-1569.e10. doi: 10.1016/j.molcel.2024.02.029. Epub 2024 Mar 18. Mol Cell. 2024. PMID: 38503285 Free article.
Detection occurs via sensory amphipathic helices in SPG20 before rupture of the membrane. If lipid-packing defects are extensive, such as during lipid peroxidation, SPG20 recruits and activates ITCH, which marks the damaged lysosome with lysine-63-linked ubiquitin c …
Detection occurs via sensory amphipathic helices in SPG20 before rupture of the membrane. If lipid-packing defects are extensive, suc …
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q.
Diquigiovanni C, Rizzardi N, Kampmeier A, Liparulo I, Bianco F, De Nicolo B, Cataldi-Stagetti E, Cuna E, Severi G, Seri M, Bertrand M, Haack TB, Marina AD, Braun F, Fato R, Kuechler A, Bergamini C, Bonora E. Diquigiovanni C, et al. Open Biol. 2023 Jul;13(7):230040. doi: 10.1098/rsob.230040. Epub 2023 Jul 12. Open Biol. 2023. PMID: 37433330 Free PMC article.
Herein, we report the identification of a role of Spartin in nuclear-encoded mitochondrial proteins. SPART biallelic missense variants were detected in a 5-year-old boy with short stature, developmental delay and muscle weakness with impaired walking distance. ...Co …
Herein, we report the identification of a role of Spartin in nuclear-encoded mitochondrial proteins. SPART biallelic missense …
KLF4, DAPK1 and SPG20 promoter methylation is not affected by DNMT1 silencing and hypomethylating drugs in lymphoma cells.
Frazzi R, Cusenza VY, Pistoni M, Canovi L, Cascione L, Bertoni F, Merli F. Frazzi R, et al. Oncol Rep. 2022 Jan;47(1):10. doi: 10.3892/or.2021.8221. Epub 2021 Nov 9. Oncol Rep. 2022. PMID: 34751409 Free PMC article.
Despite a global hypomethylating effect of 5AZA and decitabine, DNMT1 was not found to be necessary to maintain the hypermethylation of Kruppel-like factor 4 (KLF4), death associated protein 1 (DAPK1) and spastic paraplegia 20 (SPG20). SPG20 was found to be a comple …
Despite a global hypomethylating effect of 5AZA and decitabine, DNMT1 was not found to be necessary to maintain the hypermethylation of Krup …
Memory-guided navigation in amyotrophic lateral sclerosis.
Maier PM, Iggena D, Meyer T, Finke C, Ploner CJ. Maier PM, et al. J Neurol. 2023 Aug;270(8):4031-4040. doi: 10.1007/s00415-023-11753-8. Epub 2023 May 8. J Neurol. 2023. PMID: 37154895 Free PMC article.
Participants were further tested with neuropsychological tests of visuospatial memory (SPART, 10/36 Spatial Recall Test), fluency (5PT, five-point test) and orientation (PTSOT, Perspective Taking/Spatial Orientation Test). ...Measures of navigational efficacy (latency, pat …
Participants were further tested with neuropsychological tests of visuospatial memory (SPART, 10/36 Spatial Recall Test), fluency (5P …
Methylation of FBN1, SPG20, ITF2, RUNX3, SNCA, MLH1, and SEPT9 genes in circulating cell-free DNA as biomarkers of colorectal cancer.
Alizadeh-Sedigh M, Fazeli MS, Mahmoodzadeh H, Sharif SB, Teimoori-Toolabi L. Alizadeh-Sedigh M, et al. Cancer Biomark. 2022;34(2):221-250. doi: 10.3233/CBM-210315. Cancer Biomark. 2022. PMID: 34957998
FBN1, SPG20, and SEPT9 promoter methylation had a good diagnostic performance for discriminating CRC tissues from normal adjacent tissues (AUC > 0.8). ...The methylation of FBN1(a) and SPG20(a) regions, as the closest region to the first coding sequence (CDS), ha …
FBN1, SPG20, and SEPT9 promoter methylation had a good diagnostic performance for discriminating CRC tissues from normal adjacent tis …
51 results