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Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants.
Hamilton EMC, Tekturk P, Cialdella F, van Rappard DF, Wolf NI, Yalcinkaya C, Çetinçelik Ü, Rajaee A, Kariminejad A, Paprocka J, Yapici Z, Bošnjak VM, van der Knaap MS; MLC Research Group. Hamilton EMC, et al. Neurology. 2018 Apr 17;90(16):e1395-e1403. doi: 10.1212/WNL.0000000000005334. Epub 2018 Mar 21. Neurology. 2018. PMID: 29661901 Free PMC article.
OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts (MLC) and identify possible differentiating features. METHODS: We pe …
OBJECTIVE: To provide an overview of clinical and MRI characteristics of the different variants of the leukodystrophy megalencephalic …
Clinicoradiologic Correlation in 22 Egyptian Children With Megalencephalic Leukoencephalopathy With Subcortical Cysts.
Sadek AA, Aladawy MA, Mansour TMM, Ibrahim MF, Mohamed MM, Gad EF, Othman AA, Ahmed HA, Kasim AK, Wagdy WM, Hasan MHT, Abdelkreem E. Sadek AA, et al. J Child Neurol. 2022 Apr;37(5):380-389. doi: 10.1177/08830738221078683. Epub 2022 Mar 24. J Child Neurol. 2022. PMID: 35322718
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white matter disease whose clinicoradiologic correlation has not been completely understood. ...Gross motor function was assessed using the Gross …
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare genetic form of cerebral white …
Epilepsy in children with leukodystrophies.
Zhang J, Ban T, Zhou L, Ji H, Yan H, Shi Z, Cao B, Jiang Y, Wang J, Wu Y. Zhang J, et al. J Neurol. 2020 Sep;267(9):2612-2618. doi: 10.1007/s00415-020-09889-y. Epub 2020 May 9. J Neurol. 2020. PMID: 32388833
BACKGROUND: Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types of leukodystrophies is unclear yet. METHODS: A retrospective observational cohort study was performed on children diagnosed with leuk …
BACKGROUND: Epilepsy might be one of the manifestations in children with leukodystrophies, but the incidence of epilepsy in different types …
Megalencephalic Leukoencephalopathy with Subcortical Cysts Protein-1 (MLC1) Counteracts Astrocyte Activation in Response to Inflammatory Signals.
Brignone MS, Lanciotti A, Serafini B, Mallozzi C, Sbriccoli M, Veroni C, Molinari P, Elorza-Vidal X, Petrucci TC, Estévez R, Ambrosini E. Brignone MS, et al. Mol Neurobiol. 2019 Dec;56(12):8237-8254. doi: 10.1007/s12035-019-01657-y. Epub 2019 Jun 17. Mol Neurobiol. 2019. PMID: 31209783
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) is a membrane protein expressed by perivascular astrocytes. ...By combining analysis of human brain tissues with in vitro experiments, here we investigated MLC1 role in …
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 (MLC1) is a membrane protein express …
Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes.
Lanciotti A, Brignone MS, Belfiore M, Columba-Cabezas S, Mallozzi C, Vincentini O, Molinari P, Petrucci TC, Visentin S, Ambrosini E. Lanciotti A, et al. Cells. 2020 Jun 8;9(6):1425. doi: 10.3390/cells9061425. Cells. 2020. PMID: 32521795 Free PMC article.
To this purpose, astrocytes generate a highly interconnected intercellular network allowing rapid exchange of ions and metabolites through gap junctions, adjoined channels composed of hexamers of connexin (Cx) proteins, mainly Cx43. Functional alterations of Cxs and gap junctions …
To this purpose, astrocytes generate a highly interconnected intercellular network allowing rapid exchange of ions and metabolites through g …
Megalencephalic leucoencephalopathy with cysts: defect in chloride currents and cell volume regulation.
Ridder MC, Boor I, Lodder JC, Postma NL, Capdevila-Nortes X, Duarri A, Brussaard AB, Estévez R, Scheper GC, Mansvelder HD, van der Knaap MS. Ridder MC, et al. Brain. 2011 Nov;134(Pt 11):3342-54. doi: 10.1093/brain/awr255. Epub 2011 Oct 17. Brain. 2011. PMID: 22006981
We showed that regulatory volume decrease was hampered in lymphoblasts from patients with megalencephalic leucoencephalopathy. A similar trend was observed in astrocytes with decreased MLC1 expression; this effect was rescued by overexpression of normal MLC1. ...
We showed that regulatory volume decrease was hampered in lymphoblasts from patients with megalencephalic leucoencephalopathy. A similar tre …
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 regulates epidermal growth factor receptor signaling in astrocytes.
Lanciotti A, Brignone MS, Visentin S, De Nuccio C, Catacuzzeno L, Mallozzi C, Petrini S, Caramia M, Veroni C, Minnone G, Bernardo A, Franciolini F, Pessia M, Bertini E, Petrucci TC, Ambrosini E. Lanciotti A, et al. Hum Mol Genet. 2016 Apr 15;25(8):1543-58. doi: 10.1093/hmg/ddw032. Epub 2016 Feb 9. Hum Mol Genet. 2016. PMID: 26908604
Although recent studies indicate that MLC1 protein is implicated in the regulation of cell volume changes, the exact role of MLC1 in brain physiology and in the pathogenesis of MLC disease remains to be clarified. In preliminary experiments, we observed that MLC1 was poorl …
Although recent studies indicate that MLC1 protein is implicated in the regulation of cell volume changes, the exact role of MLC1 in brain p …
A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration.
Ain Ul Batool S, Almatrafi A, Fadhli F, Alluqmani M, Sadia, Ali G, Basit S. Ain Ul Batool S, et al. Am J Med Genet A. 2022 Apr;188(4):1075-1082. doi: 10.1002/ajmg.a.62614. Epub 2021 Dec 17. Am J Med Genet A. 2022. PMID: 34918859
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy characterized by epileptic seizures, macrocephaly, and vacuolization of myelin and astrocyte. The magnetic resonance imaging of the brain of MLC pa …
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare type of leukodystrophy charact …
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families.
Khalaf-Nazzal R, Dweikat I, Maree M, Alawneh M, Barahmeh M, Doulani RT, Qrareya M, Qadi M, Dudin A. Khalaf-Nazzal R, et al. Brain Dev. 2022 Aug;44(7):454-461. doi: 10.1016/j.braindev.2022.03.009. Epub 2022 Apr 16. Brain Dev. 2022. PMID: 35440380
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 604004) is a rare early-onset leukodystrophy that presents with macrocephaly, seizures, slowly progressive gross motor deterioration, and MRI ev …
BACKGROUND: Recessive forms of megalencephalic leukoencephalopathy with subcortical cysts (MLC, OMIM 6040 …
Megalencephalic leukoencephalopathy with subcortical cysts protein 1 regulates glial surface localization of GLIALCAM from fish to humans.
Sirisi S, Folgueira M, López-Hernández T, Minieri L, Pérez-Rius C, Gaitán-Peñas H, Zang J, Martínez A, Capdevila-Nortes X, De La Villa P, Roy U, Alia A, Neuhauss S, Ferroni S, Nunes V, Estévez R, Barrallo-Gimeno A. Sirisi S, et al. Hum Mol Genet. 2014 Oct 1;23(19):5069-86. doi: 10.1093/hmg/ddu231. Epub 2014 May 12. Hum Mol Genet. 2014. PMID: 24824219 Free article.
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by myelin vacuolization and caused by mutations in MLC1 or GLIALCAM. ...Re-examination of a brain biopsy from an MLC patient indicates that GLIALC …
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a leukodystrophy characterized by mye …
37 results