174 related articles for article (PubMed ID: 37143309)
21. 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
Brain; 2011 Nov; 134(Pt 11):3342-54. PubMed ID: 22006981
[TBL] [Abstract][Full Text] [Related]
22. 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
Am J Med Genet A; 2022 Apr; 188(4):1075-1082. PubMed ID: 34918859
[TBL] [Abstract][Full Text] [Related]
23. Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts.
Dubey M; Brouwers E; Hamilton EMC; Stiedl O; Bugiani M; Koch H; Kole MHP; Boschert U; Wykes RC; Mansvelder HD; van der Knaap MS; Min R
Ann Neurol; 2018 Mar; 83(3):636-649. PubMed ID: 29466841
[TBL] [Abstract][Full Text] [Related]
24. Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies.
Elorza-Vidal X; Xicoy-Espaulella E; Pla-Casillanis A; Alonso-Gardón M; Gaitán-Peñas H; Engel-Pizcueta C; Fernández-Recio J; Estévez R
Hum Mol Genet; 2020 May; 29(7):1107-1120. PubMed ID: 31960914
[TBL] [Abstract][Full Text] [Related]
25. Comparison of zebrafish and mice knockouts for Megalencephalic Leukoencephalopathy proteins indicates that GlialCAM/MLC1 forms a functional unit.
Pérez-Rius C; Folgueira M; Elorza-Vidal X; Alia A; Hoegg-Beiler MB; Eeza MNH; Díaz ML; Nunes V; Barrallo-Gimeno A; Estévez R
Orphanet J Rare Dis; 2019 Nov; 14(1):268. PubMed ID: 31752924
[TBL] [Abstract][Full Text] [Related]
26. Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations.
Arnedo T; Aiello C; Jeworutzki E; Dentici ML; Uziel G; Simonati A; Pusch M; Bertini E; Estévez R
Neurogenetics; 2014 Mar; 15(1):41-8. PubMed ID: 24202401
[TBL] [Abstract][Full Text] [Related]
27. 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;
Neurology; 2018 Apr; 90(16):e1395-e1403. PubMed ID: 29661901
[TBL] [Abstract][Full Text] [Related]
28. Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model.
Duarri A; Lopez de Heredia M; Capdevila-Nortes X; Ridder MC; Montolio M; López-Hernández T; Boor I; Lien CF; Hagemann T; Messing A; Gorecki DC; Scheper GC; Martínez A; Nunes V; van der Knaap MS; Estévez R
Neurobiol Dis; 2011 Jul; 43(1):228-38. PubMed ID: 21440627
[TBL] [Abstract][Full Text] [Related]
29. Aquaporin-4 deletion leads to reduced infarct volume and increased peri-infarct astrocyte reactivity in a mouse model of cortical stroke.
Skauli N; Zohoorian N; Banitalebi S; Geiseler S; Salameh M; Rao SB; Morland C; Ottersen OP; Amiry-Moghaddam M
J Physiol; 2024 Jul; 602(13):3151-3168. PubMed ID: 38924526
[TBL] [Abstract][Full Text] [Related]
30. Megalencephalic leukoencephalopathy with subcortical cysts protein-1: A new calcium-sensitive protein functionally activated by endoplasmic reticulum calcium release and calmodulin binding in astrocytes.
Brignone MS; Lanciotti A; Molinari P; Mallozzi C; De Nuccio C; Caprini ES; Petrucci TC; Visentin S; Ambrosini E
Neurobiol Dis; 2024 Jan; 190():106388. PubMed ID: 38141856
[TBL] [Abstract][Full Text] [Related]
31. Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.
Shi Z; Yan HF; Cao BB; Guo MM; Xie H; Gao K; Xiao JX; Yang YL; Xiong H; Gu Q; Li M; Wu Y; Jiang YW; Wang JM
World J Pediatr; 2019 Oct; 15(5):454-464. PubMed ID: 31372844
[TBL] [Abstract][Full Text] [Related]
32. 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
Mol Neurobiol; 2019 Dec; 56(12):8237-8254. PubMed ID: 31209783
[TBL] [Abstract][Full Text] [Related]
33. Postnatal development of the astrocyte perivascular MLC1/GlialCAM complex defines a temporal window for the gliovascular unit maturation.
Gilbert A; Vidal XE; Estevez R; Cohen-Salmon M; Boulay AC
Brain Struct Funct; 2019 Apr; 224(3):1267-1278. PubMed ID: 30684007
[TBL] [Abstract][Full Text] [Related]
34. Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research.
Cao B; Yan H; Guo M; Xie H; Wu Y; Gu Q; Xiao J; Shang J; Yang Y; Xiong H; Niu Z; Wu X; Jiang Y; Wang J
PLoS One; 2016; 11(6):e0157258. PubMed ID: 27322623
[TBL] [Abstract][Full Text] [Related]
35. Homozygous variant of MLC1 results in megalencephalic leukoencephalopathy with subcortical cysts.
Zha J; Chen Y; Cao F; Xu Y; Yang Z; Wen S; Liang M; Wu H; Zhong J
Mol Genet Genomic Med; 2024 Feb; 12(2):e2394. PubMed ID: 38337154
[TBL] [Abstract][Full Text] [Related]
36. Astrocyte-mediated infantile-onset leukoencephalopathy mouse model.
Sugio S; Tohyama K; Oku S; Fujiyoshi K; Yoshimura T; Hikishima K; Yano R; Fukuda T; Nakamura M; Okano H; Watanabe M; Fukata M; Ikenaka K; Tanaka KF
Glia; 2017 Jan; 65(1):150-168. PubMed ID: 27748972
[TBL] [Abstract][Full Text] [Related]
37. A Unique Mutational Spectrum of MLC1 in Korean Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: p.Ala275Asp Founder Mutation and Maternal Uniparental Disomy of Chromosome 22.
Choi SA; Kim SY; Yoon J; Choi J; Park SS; Seong MW; Kim H; Hwang H; Choi JE; Chae JH; Kim KJ; Kim S; Lee YJ; Nam SO; Lim BC
Ann Lab Med; 2017 Nov; 37(6):516-521. PubMed ID: 28840990
[TBL] [Abstract][Full Text] [Related]
38. MLC1 is associated with the dystrophin-glycoprotein complex at astrocytic endfeet.
Boor I; Nagtegaal M; Kamphorst W; van der Valk P; Pronk JC; van Horssen J; Dinopoulos A; Bove KE; Pascual-Castroviejo I; Muntoni F; Estévez R; Scheper GC; van der Knaap MS
Acta Neuropathol; 2007 Oct; 114(4):403-10. PubMed ID: 17628813
[TBL] [Abstract][Full Text] [Related]
39. A novel role for MLC1 in regulating astrocyte-synapse interactions.
Kater MSJ; Baumgart KF; Badia-Soteras A; Heistek TS; Carney KE; Timmerman AJ; van Weering JRT; Smit AB; van der Knaap MS; Mansvelder HD; Verheijen MHG; Min R
Glia; 2023 Jul; 71(7):1770-1785. PubMed ID: 37002718
[TBL] [Abstract][Full Text] [Related]
40. Megalencephalic leukoencephalopathy with cysts: the
Bugiani M; Dubey M; Breur M; Postma NL; Dekker MP; Ter Braak T; Boschert U; Abbink TEM; Mansvelder HD; Min R; van Weering JRT; van der Knaap MS
Ann Clin Transl Neurol; 2017 Jul; 4(7):450-465. PubMed ID: 28695146
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
