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Items: 1 to 20 of 25

1.
Transmembrane topology and oligomeric nature of an astrocytic membrane protein, MLC1
Junmo Hwang, Kunwoong Park, Ga-Young Lee, Bo Young Yoon, Hyunmin Kim, Sung Hoon Roh, Byoung-Cheol Lee, Kipom Kim, Hyun-Ho Lim
Open Biol. 2021 Dec; 11(12): 210103. Published online December 1, 2021. doi: 10.1098/rsob.210103
PMCID:
PMC8633789
AbstractArticlePDF–1.9M
2.
Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 (MLC1) Promotes Glioblastoma Cell Invasion in the Brain Microenvironment
John M. Lattier, Arpan De, Zhihua Chen, John E. Morales, Frederick F. Lang, Jason T. Huse, Joseph H. McCarty
Oncogene. Author manuscript; available in PMC 2021 Apr 10.
Published in final edited form as: Oncogene. 2020 Dec; 39(50): 7253–7264. Published online 2020 Oct 10. doi: 10.1038/s41388-020-01503-9
PMCID:
PMC7736299
AbstractArticlePDF–2.3M
3.
Megalencephalic Leukoencephalopathy with Subcortical Cysts Disease-Linked MLC1 Protein Favors Gap-Junction Intercellular Communication by Regulating Connexin 43 Trafficking in Astrocytes
Angela Lanciotti, Maria Stefania Brignone, Marcello Belfiore, Sandra Columba-Cabezas, Cinzia Mallozzi, Olimpia Vincentini, Paola Molinari, Tamara Corinna Petrucci, Sergio Visentin, Elena Ambrosini
Cells. 2020 Jun; 9(6): 1425. Published online 2020 Jun 8. doi: 10.3390/cells9061425
PMCID:
PMC7348769
AbstractArticlePDF–3.8M
4.
Plasma membrane localization of MLC1 regulates cellular morphology and motility
Junmo Hwang, Hung M. Vu, Min-Sik Kim, Hyun-Ho Lim
Mol Brain. 2019; 12: 116. Published online 2019 Dec 30. doi: 10.1186/s13041-019-0540-6
PMCID:
PMC6938022
AbstractArticlePDF–5.8M
5.
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
Sun Ah Choi, Soo Yeon Kim, Jihoo Yoon, Joongmoon Choi, Sung Sup Park, Moon-Woo Seong, Hunmin Kim, Hee Hwang, Ji Eun Choi, Jong Hee Chae, Ki Joong Kim, Seunghyo Kim, Yun-Jin Lee, Sang Ook Nam, Byung Chan Lim
Ann Lab Med. 2017 Nov; 37(6): 516–521. Published online 2017 Aug 16. doi: 10.3343/alm.2017.37.6.516
PMCID:
PMC5587825
AbstractArticlePDF–4.2M
6.
Megalencephalic leukoencephalopathy with subcortical cysts protein-1 modulates endosomal pH and protein trafficking in astrocytes: Relevance to MLC disease pathogenesis
Maria S. Brignone, Angela Lanciotti, Sergio Visentin, Chiara De Nuccio, Paola Molinari, Serena Camerini, Marco Diociaiuti, Stefania Petrini, Gaetana Minnone, Marco Crescenzi, Luisa Bracci Laudiero, Enrico Bertini, Tamara C. Petrucci, Elena Ambrosini
Neurobiol Dis. 2014 Jun; 66(100): 1–18. doi: 10.1016/j.nbd.2014.02.003
PMCID:
PMC4003525
AbstractArticle
7.
Knockdown of MLC1 in primary astrocytes causes cell vacuolation: a MLC disease cell model
Anna Duarri, Miguel Lopez de Heredia, Xavier Capdevila-Nortes, Margreet C. Ridder, Marisol Montolio, Tania López-Hernández, Ilja Boor, Chun-Fu Lien, Tracy Hagemann, Albee Messing, Dariusz C. Gorecki, Gert C. Scheper, Albert Martínez, Virginia Nunes, Marjo S. van der Knaap, Raúl Estévez
Neurobiol Dis. Author manuscript; available in PMC 2014 Jan 9.
Published in final edited form as: Neurobiol Dis. 2011 Jul; 43(1): 10.1016/j.nbd.2011.03.015. Published online 2011 Apr 3. doi: 10.1016/j.nbd.2011.03.015
PMCID:
PMC3885813
AbstractArticlePDF–6.8M
8.
Functional Studies of MLC1 Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts
Han Xie, Jingmin Wang, Ajit Singh Dhaunchak, Jing Shang, Liping Kou, Mangmang Guo, Ye Wu, Qiang Gu, David Colman, Xiru Wu, Yuwu Jiang
PLoS One. 2012; 7(3): e33087. Published online 2012 Mar 5. doi: 10.1371/journal.pone.0033087
PMCID:
PMC3293920
AbstractArticlePDF–624K
9.
Mutations of MLC1 (KIAA0027), Encoding a Putative Membrane Protein, Cause Megalencephalic Leukoencephalopathy with Subcortical Cysts
Peter A. J. Leegwater, Bao Qiang Yuan, Jeffrey van der Steen, Joyce Mulders, Andrea A. M. Könst, P. K. Ilja Boor, Vlatka Mejaski-Bosnjak, Silvère M. van der Maarel, Rune R. Frants, Cees B. M. Oudejans, Ruud B. H. Schutgens, Jan C. Pronk, Marjo S. van der Knaap
Am J Hum Genet. 2001 Apr; 68(4): 831–838. Published online 2001 Mar 6. doi: 10.1086/319519
PMCID:
PMC1275636
AbstractArticlePDF–571K
10.
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies
Xabier Elorza-Vidal, Efren Xicoy-Espaulella, Adrià Pla-Casillanis, Marta Alonso-Gardón, Héctor Gaitán-Peñas, Carolyn Engel-Pizcueta, Juan Fernández-Recio, Raúl Estévez
Hum Mol Genet. 2020 May 8; 29(7): 1107–1120. Published online 2020 Jan 21. doi: 10.1093/hmg/ddaa009
PMCID:
PMC7206653
AbstractArticlePDF–1.9M
11.
Ten Novel Mutations in Chinese Patients with Megalencephalic Leukoencephalopathy with Subcortical Cysts and a Long-Term Follow-Up Research
Binbin Cao, Huifang Yan, Mangmang Guo, Han Xie, Ye Wu, Qiang Gu, Jiangxi Xiao, Jing Shang, Yanling Yang, Hui Xiong, Zhengping Niu, Xiru Wu, Yuwu Jiang, Jingmin Wang
PLoS One. 2016; 11(6): e0157258. Published online 2016 Jun 20. doi: 10.1371/journal.pone.0157258
PMCID:
PMC4913951
AbstractArticlePDF–3.4M
12.
The β1 subunit of the Na,K-ATPase pump interacts with megalencephalic leucoencephalopathy with subcortical cysts protein 1 (MLC1) in brain astrocytes: new insights into MLC pathogenesis
Maria S. Brignone, Angela Lanciotti, Pompeo Macioce, Gianfranco Macchia, Matteo Gaetani, Francesca Aloisi, Tamara C. Petrucci, Elena Ambrosini
Hum Mol Genet. 2011 Jan 1; 20(1): 90–103. Published online 2010 Oct 6. doi: 10.1093/hmg/ddq435
PMCID:
PMC3000678
AbstractArticlePDF–412K
13.
Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden
BMC Med Genet. 2020; 21: 59. Published online 2020 Mar 24. doi: 10.1186/s12881-020-00998-z
PMCID:
PMC7092478
AbstractArticlePDF–1.2M
14.
Potential biomarkers of acute myocardial infarction based on weighted gene co-expression network analysis
Zhihua Liu, Chenguang Ma, Junhua Gu, Ming Yu
Biomed Eng Online. 2019; 18: 9. Published online 2019 Jan 25. doi: 10.1186/s12938-019-0625-6
PMCID:
PMC6347746
AbstractArticlePDF–1.3M
15.
Seizures and disturbed brain potassium dynamics in the leukodystrophy megalencephalic leukoencephalopathy with subcortical cysts
Mohit Dubey, Eelke Brouwers, Eline M.C. Hamilton, Oliver Stiedl, Marianna Bugiani, Henner Koch, Maarten H.P. Kole, Ursula Boschert, Robert C. Wykes, Huibert D. Mansvelder, Marjo S. van der Knaap, Rogier Min
Ann Neurol. 2018 Mar; 83(3): 636–649. Published online 2018 Mar 13. doi: 10.1002/ana.25190
PMCID:
PMC5900999
AbstractArticlePDF–1.0M
16.
Structural determinants of interaction, trafficking and function in the ClC-2/MLC1 subunit GlialCAM involved in leukodystrophy
Xavier Capdevila-Nortes, Elena Jeworutzki, Xabier Elorza-Vidal, Alejandro Barrallo-Gimeno, Michael Pusch, Raúl Estévez
J Physiol. 2015 Sep 15; 593(Pt 18): 4165–4180. Published online 2015 Jun 23. doi: 10.1113/JP270467
PMCID:
PMC4594291
AbstractArticlePDF–2.9M
17.
Circulating Fibroblast Growth Factor-2, HIV-Tat, and Vascular Endothelial Cell Growth Factor-A in HIV-Infected Children with Renal Disease Activate Rho-A and Src in Cultured Renal Endothelial Cells
Jharna R Das, J. Silvio Gutkind, Patricio E Ray
PLoS One. 2016; 11(4): e0153837. Published online 2016 Apr 20. doi: 10.1371/journal.pone.0153837
PMCID:
PMC4838216
AbstractArticlePDF–1.8M
18.
Nf1 RasGAP Inhibition of LIMK2 Mediates a New Cross-Talk between Ras and Rho Pathways
Béatrice Vallée, Michel Doudeau, Fabienne Godin, Aurélie Gombault, Aurélie Tchalikian, Marie-Ludivine de Tauzia, Hélène Bénédetti
PLoS One. 2012; 7(10): e47283. Published online 2012 Oct 17. doi: 10.1371/journal.pone.0047283
PMCID:
PMC3474823
AbstractArticlePDF–2.5M
19.
MLC1 is associated with the Dystrophin-Glycoprotein Complex at astrocytic endfeet
Ilja Boor, Machiel Nagtegaal, Wouter Kamphorst, Paul van der Valk, Jan C. Pronk, Jack van Horssen, Argirios Dinopoulos, Kevin E. Bove, Ignacio Pascual-Castroviejo, Francesco Muntoni, Raúl Estévez, Gert C. Scheper, Marjo S. van der Knaap
Acta Neuropathol. 2007 Oct; 114(4): 403–410. Published online 2007 Jul 13. doi: 10.1007/s00401-007-0247-0
PMCID:
PMC2039857
AbstractArticlePDF–663K
20.
A genome annotation-driven approach to cloning the human ORFeome
John E Collins, Charmain L Wright, Carol A Edwards, Matthew P Davis, James A Grinham, Charlotte G Cole, Melanie E Goward, Begoña Aguado, Meera Mallya, Younes Mokrab, Elizabeth J Huckle, David M Beare, Ian Dunham
Genome Biol. 2004; 5(10): R84. Published online 2004 Sep 30. doi: 10.1186/gb-2004-5-10-r84
PMCID:
PMC545604
AbstractArticlePDF–762K

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