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Distal hereditary motor neuropathies.
Tazir M, Nouioua S. Tazir M, et al. Rev Neurol (Paris). 2024 Dec;180(10):1031-1036. doi: 10.1016/j.neurol.2023.09.005. Epub 2024 May 3. Rev Neurol (Paris). 2024. PMID: 38702287 Review.
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, whereas dHMN with vocal cord palsy is associated with SLC5A7, DCTN1 and TRPV4 genes. ...
Distal hereditary motor neuropathy that predominates in the upper limbs is linked mainly to three genes: GARS, BSCL2 and REEP1, where …
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 …
Seipin localizes at endoplasmic-reticulum-mitochondria contact sites to control mitochondrial calcium import and metabolism in adipocytes.
Combot Y, Salo VT, Chadeuf G, Hölttä M, Ven K, Pulli I, Ducheix S, Pecqueur C, Renoult O, Lak B, Li S, Karhinen L, Belevich I, Le May C, Rieusset J, Le Lay S, Croyal M, Tayeb KS, Vihinen H, Jokitalo E, Törnquist K, Vigouroux C, Cariou B, Magré J, Larhlimi A, Ikonen E, Prieur X. Combot Y, et al. Cell Rep. 2022 Jan 11;38(2):110213. doi: 10.1016/j.celrep.2021.110213. Cell Rep. 2022. PMID: 35021082 Free article.
Deficiency of the endoplasmic reticulum (ER) protein seipin results in generalized lipodystrophy by incompletely understood mechanisms. Here, we report mitochondrial abnormalities in seipin-deficient patient cells. ...Seipin association with MAM calcium regul …
Deficiency of the endoplasmic reticulum (ER) protein seipin results in generalized lipodystrophy by incompletely understood mechanism …
Lipid Droplet Nucleation.
Thiam AR, Ikonen E. Thiam AR, et al. Trends Cell Biol. 2021 Feb;31(2):108-118. doi: 10.1016/j.tcb.2020.11.006. Epub 2020 Dec 5. Trends Cell Biol. 2021. PMID: 33293168 Review.
Role of Seipin in Human Diseases and Experimental Animal Models.
Li Y, Yang X, Peng L, Xia Q, Zhang Y, Huang W, Liu T, Jia D. Li Y, et al. Biomolecules. 2022 Jun 17;12(6):840. doi: 10.3390/biom12060840. Biomolecules. 2022. PMID: 35740965 Free PMC article. Review.
In various animal models representing diseases that are not related to Bscl2 mutations, differential expression patterns and functional roles of seipin are also described. ...Meanwhile, seipin-related pathways are also considered to have potential therapeutic …
In various animal models representing diseases that are not related to Bscl2 mutations, differential expression patterns and function …
A unifying mechanism for seipin-mediated lipid droplet formation.
Klug YA, Ferreira JV, Carvalho P. Klug YA, et al. FEBS Lett. 2024 May;598(10):1116-1126. doi: 10.1002/1873-3468.14825. Epub 2024 Feb 13. FEBS Lett. 2024. PMID: 38785192 Free PMC article. Review.
Assembly of LDs occurs in the endoplasmic reticulum (ER), and the conserved ER membrane protein seipin emerged as a key player in this process. Here, we review recent advances provided by structural, biochemical, and in silico analysis that revealed mechanistic insights in …
Assembly of LDs occurs in the endoplasmic reticulum (ER), and the conserved ER membrane protein seipin emerged as a key player in thi …
Seipin: harvesting fat and keeping adipocytes healthy.
Rao MJ, Goodman JM. Rao MJ, et al. Trends Cell Biol. 2021 Nov;31(11):912-923. doi: 10.1016/j.tcb.2021.06.003. Epub 2021 Jun 29. Trends Cell Biol. 2021. PMID: 34215489 Free PMC article. Review.
Seipin is a key protein in the assembly of cytoplasmic lipid droplets (cLDs) and their maintenance at endoplasmic reticulum (ER)-LD junctions; the absence of seipin results in generalized lipodystrophy. How seipin mediates LD dynamics and prevents lipodystrop …
Seipin is a key protein in the assembly of cytoplasmic lipid droplets (cLDs) and their maintenance at endoplasmic reticulum (ER)-LD j …
Seipin is involved in oxygen-glucose deprivation/reoxygenation induced neuroinflammation by regulating the TLR3/TRAF3/NF-kappaB pathway.
Guo D, Hu L, Xie P, Sun P, Yu W. Guo D, et al. Int Immunopharmacol. 2024 Jun 15;134:112182. doi: 10.1016/j.intimp.2024.112182. Epub 2024 May 3. Int Immunopharmacol. 2024. PMID: 38703568 Free article.
Seipin plays a crucial role in lipid metabolism and is involved in neurological disorders. ...Our results revealed a significant decrease in seipin mRNA levels, accompanied by enhanced expression of TNF-alpha in patients with AIS, and a significant negative correlat …
Seipin plays a crucial role in lipid metabolism and is involved in neurological disorders. ...Our results revealed a significant decr …
Seipin Deficiency as a Model of Severe Adipocyte Dysfunction: Lessons from Rodent Models and Teaching for Human Disease.
Magré J, Prieur X. Magré J, et al. Int J Mol Sci. 2022 Jan 11;23(2):740. doi: 10.3390/ijms23020740. Int J Mol Sci. 2022. PMID: 35054926 Free PMC article. Review.
Berardinelli-Seip congenital lipodystrophy (BSCL) is the most severe form with a near absence of WAT associated with cardiometabolic complications such as insulin resistance, liver steatosis, dyslipidemia, and cardiomyopathy. Twenty years ago, mutations in the BSCL2 gene h …
Berardinelli-Seip congenital lipodystrophy (BSCL) is the most severe form with a near absence of WAT associated with cardiometabolic complic …
Lipid Droplet Contact Sites in Health and Disease.
Herker E, Vieyres G, Beller M, Krahmer N, Bohnert M. Herker E, et al. Trends Cell Biol. 2021 May;31(5):345-358. doi: 10.1016/j.tcb.2021.01.004. Epub 2021 Feb 2. Trends Cell Biol. 2021. PMID: 33546922 Free article. Review.
72 results